Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays Article Swipe
Xueyang Pan
,
Albert N. Alvarez
,
Mengqi Ma
,
Shenzhao Lu
,
Michael Crawford
,
Lauren C. Briere
,
Oguz Kanca
,
Shinya Yamamoto
,
David A. Sweetser
,
Jenny L. Wilson
,
Ruth J. Napier
,
Jonathan N. Pruneda
,
Hugo J. Bellen
·
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.7554/elife.89891.1
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.7554/elife.89891.1
Protein UFMylation downstream of the E1 enzyme UBA5 plays essential roles in development and ER stress. Variants in the UBA5 gene are associated with developmental and epileptic encephalopathy 44 (DEE44), an autosomal recessive disorder characterized by early-onset encephalopathy, movement abnormalities, global developmental delay, intellectual disability, and seizures. DEE44 is caused by at least twelve different missense variants described as loss of function (LoF), but the relationships between genotypes and molecular or clinical phenotypes remains to be established. We developed a humanized UBA5 fly model and biochemical activity assays in order to describe in vivo and in vitro genotype-phenotype relationships across the UBA5 allelic series. In vivo, we observed a broad spectrum of phenotypes in viability, developmental timing, lifespan, locomotor activity, and bang sensitivity. A range of functional effects was also observed in vitro across comprehensive biochemical assays for protein stability, ATP binding, UFM1 activation, and UFM1 transthiolation. Importantly, there is a strong correlation between in vivo and in vitro phenotypes, establishing a classification of LoF variants into mild, intermediate, and severe allelic strengths. By systemically evaluating UBA5 variants across in vivo and in vitro platforms, this study provides a foundation for more basic and translational UBA5 research, as well as a basis for evaluating current and future individuals afflicted with this rare disease.
Related Topics
Metadata
- Type
- preprint
- Language
- en
- Landing Page
- https://doi.org/10.7554/elife.89891.1
- OA Status
- gold
- Cited By
- 3
- References
- 57
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4385659103
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W4385659103Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.7554/elife.89891.1Digital Object Identifier
- Title
-
Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assaysWork title
- Type
-
preprintOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2023Year of publication
- Publication date
-
2023-08-08Full publication date if available
- Authors
-
Xueyang Pan, Albert N. Alvarez, Mengqi Ma, Shenzhao Lu, Michael Crawford, Lauren C. Briere, Oguz Kanca, Shinya Yamamoto, David A. Sweetser, Jenny L. Wilson, Ruth J. Napier, Jonathan N. Pruneda, Hugo J. BellenList of authors in order
- Landing page
-
https://doi.org/10.7554/elife.89891.1Publisher landing page
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
-
https://doi.org/10.7554/elife.89891.1Direct OA link when available
- Concepts
-
In vivo, Allele, In vitro, Biology, Genetics, Encephalopathy, Gene, Medicine, Internal medicineTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
3Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 1, 2024: 2Per-year citation counts (last 5 years)
- References (count)
-
57Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
Full payload
| id | https://openalex.org/W4385659103 |
|---|---|
| doi | https://doi.org/10.7554/elife.89891.1 |
| ids.doi | https://doi.org/10.7554/elife.89891.1 |
| ids.openalex | https://openalex.org/W4385659103 |
| fwci | 0.74287119 |
| type | preprint |
| title | Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays |
| biblio.issue | |
| biblio.volume | |
| biblio.last_page | |
| biblio.first_page | |
| topics[0].id | https://openalex.org/T10617 |
| topics[0].field.id | https://openalex.org/fields/13 |
| topics[0].field.display_name | Biochemistry, Genetics and Molecular Biology |
| topics[0].score | 0.9980999827384949 |
| topics[0].domain.id | https://openalex.org/domains/1 |
| topics[0].domain.display_name | Life Sciences |
| topics[0].subfield.id | https://openalex.org/subfields/1307 |
| topics[0].subfield.display_name | Cell Biology |
| topics[0].display_name | Cellular transport and secretion |
| topics[1].id | https://openalex.org/T12610 |
| topics[1].field.id | https://openalex.org/fields/13 |
| topics[1].field.display_name | Biochemistry, Genetics and Molecular Biology |
| topics[1].score | 0.9980999827384949 |
| topics[1].domain.id | https://openalex.org/domains/1 |
| topics[1].domain.display_name | Life Sciences |
| topics[1].subfield.id | https://openalex.org/subfields/1312 |
| topics[1].subfield.display_name | Molecular Biology |
| topics[1].display_name | RNA regulation and disease |
| topics[2].id | https://openalex.org/T10945 |
| topics[2].field.id | https://openalex.org/fields/27 |
| topics[2].field.display_name | Medicine |
| topics[2].score | 0.9926999807357788 |
| topics[2].domain.id | https://openalex.org/domains/4 |
| topics[2].domain.display_name | Health Sciences |
| topics[2].subfield.id | https://openalex.org/subfields/2737 |
| topics[2].subfield.display_name | Physiology |
| topics[2].display_name | Lysosomal Storage Disorders Research |
| is_xpac | False |
| apc_list | |
| apc_paid | |
| concepts[0].id | https://openalex.org/C207001950 |
| concepts[0].level | 2 |
| concepts[0].score | 0.6926663517951965 |
| concepts[0].wikidata | https://www.wikidata.org/wiki/Q141124 |
| concepts[0].display_name | In vivo |
| concepts[1].id | https://openalex.org/C180754005 |
| concepts[1].level | 3 |
| concepts[1].score | 0.6196792125701904 |
| concepts[1].wikidata | https://www.wikidata.org/wiki/Q80726 |
| concepts[1].display_name | Allele |
| concepts[2].id | https://openalex.org/C202751555 |
| concepts[2].level | 2 |
| concepts[2].score | 0.6141549348831177 |
| concepts[2].wikidata | https://www.wikidata.org/wiki/Q221681 |
| concepts[2].display_name | In vitro |
| concepts[3].id | https://openalex.org/C86803240 |
| concepts[3].level | 0 |
| concepts[3].score | 0.5578539967536926 |
| concepts[3].wikidata | https://www.wikidata.org/wiki/Q420 |
| concepts[3].display_name | Biology |
| concepts[4].id | https://openalex.org/C54355233 |
| concepts[4].level | 1 |
| concepts[4].score | 0.5318529009819031 |
| concepts[4].wikidata | https://www.wikidata.org/wiki/Q7162 |
| concepts[4].display_name | Genetics |
| concepts[5].id | https://openalex.org/C2778621155 |
| concepts[5].level | 2 |
| concepts[5].score | 0.48170381784439087 |
| concepts[5].wikidata | https://www.wikidata.org/wiki/Q576349 |
| concepts[5].display_name | Encephalopathy |
| concepts[6].id | https://openalex.org/C104317684 |
| concepts[6].level | 2 |
| concepts[6].score | 0.21507462859153748 |
| concepts[6].wikidata | https://www.wikidata.org/wiki/Q7187 |
| concepts[6].display_name | Gene |
| concepts[7].id | https://openalex.org/C71924100 |
| concepts[7].level | 0 |
| concepts[7].score | 0.1956724226474762 |
| concepts[7].wikidata | https://www.wikidata.org/wiki/Q11190 |
| concepts[7].display_name | Medicine |
| concepts[8].id | https://openalex.org/C126322002 |
| concepts[8].level | 1 |
| concepts[8].score | 0.09484556317329407 |
| concepts[8].wikidata | https://www.wikidata.org/wiki/Q11180 |
| concepts[8].display_name | Internal medicine |
| keywords[0].id | https://openalex.org/keywords/in-vivo |
| keywords[0].score | 0.6926663517951965 |
| keywords[0].display_name | In vivo |
| keywords[1].id | https://openalex.org/keywords/allele |
| keywords[1].score | 0.6196792125701904 |
| keywords[1].display_name | Allele |
| keywords[2].id | https://openalex.org/keywords/in-vitro |
| keywords[2].score | 0.6141549348831177 |
| keywords[2].display_name | In vitro |
| keywords[3].id | https://openalex.org/keywords/biology |
| keywords[3].score | 0.5578539967536926 |
| keywords[3].display_name | Biology |
| keywords[4].id | https://openalex.org/keywords/genetics |
| keywords[4].score | 0.5318529009819031 |
| keywords[4].display_name | Genetics |
| keywords[5].id | https://openalex.org/keywords/encephalopathy |
| keywords[5].score | 0.48170381784439087 |
| keywords[5].display_name | Encephalopathy |
| keywords[6].id | https://openalex.org/keywords/gene |
| keywords[6].score | 0.21507462859153748 |
| keywords[6].display_name | Gene |
| keywords[7].id | https://openalex.org/keywords/medicine |
| keywords[7].score | 0.1956724226474762 |
| keywords[7].display_name | Medicine |
| keywords[8].id | https://openalex.org/keywords/internal-medicine |
| keywords[8].score | 0.09484556317329407 |
| keywords[8].display_name | Internal medicine |
| language | en |
| locations[0].id | doi:10.7554/elife.89891.1 |
| locations[0].is_oa | True |
| locations[0].source | |
| locations[0].license | cc-by |
| locations[0].pdf_url | |
| locations[0].version | acceptedVersion |
| locations[0].raw_type | posted-content |
| locations[0].license_id | https://openalex.org/licenses/cc-by |
| locations[0].is_accepted | True |
| locations[0].is_published | False |
| locations[0].raw_source_name | |
| locations[0].landing_page_url | https://doi.org/10.7554/elife.89891.1 |
| indexed_in | crossref |
| authorships[0].author.id | https://openalex.org/A5015905695 |
| authorships[0].author.orcid | https://orcid.org/0000-0003-4453-4971 |
| authorships[0].author.display_name | Xueyang Pan |
| authorships[0].countries | US |
| authorships[0].affiliations[0].institution_ids | https://openalex.org/I181547552 |
| authorships[0].affiliations[0].raw_affiliation_string | Department of Molecular and Human Genetics, Baylor College of Medicine |
| authorships[0].affiliations[1].institution_ids | https://openalex.org/I4210117334, https://openalex.org/I4210147586 |
| authorships[0].affiliations[1].raw_affiliation_string | Jan & Dan Duncan Neurological Research Institute, Texas Children’s Hospital |
| authorships[0].institutions[0].id | https://openalex.org/I181547552 |
| authorships[0].institutions[0].ror | https://ror.org/02pttbw34 |
| authorships[0].institutions[0].type | education |
| authorships[0].institutions[0].lineage | https://openalex.org/I181547552, https://openalex.org/I2801539370 |
| authorships[0].institutions[0].country_code | US |
| authorships[0].institutions[0].display_name | Baylor College of Medicine |
| authorships[0].institutions[1].id | https://openalex.org/I4210117334 |
| authorships[0].institutions[1].ror | https://ror.org/02ea83075 |
| authorships[0].institutions[1].type | other |
| authorships[0].institutions[1].lineage | https://openalex.org/I4210117334 |
| authorships[0].institutions[1].country_code | US |
| authorships[0].institutions[1].display_name | Neurological Research Institute |
| authorships[0].institutions[2].id | https://openalex.org/I4210147586 |
| authorships[0].institutions[2].ror | https://ror.org/05cz92x43 |
| authorships[0].institutions[2].type | healthcare |
| authorships[0].institutions[2].lineage | https://openalex.org/I4210147586 |
| authorships[0].institutions[2].country_code | US |
| authorships[0].institutions[2].display_name | Texas Children's Hospital |
| authorships[0].author_position | first |
| authorships[0].raw_author_name | Xueyang Pan |
| authorships[0].is_corresponding | False |
| authorships[0].raw_affiliation_strings | Department of Molecular and Human Genetics, Baylor College of Medicine, Jan & Dan Duncan Neurological Research Institute, Texas Children’s Hospital |
| authorships[1].author.id | https://openalex.org/A5104194391 |
| authorships[1].author.orcid | |
| authorships[1].author.display_name | Albert N. Alvarez |
| authorships[1].countries | US |
| authorships[1].affiliations[0].institution_ids | https://openalex.org/I165690674 |
| authorships[1].affiliations[0].raw_affiliation_string | Department of Molecular Microbiology & Immunology, Oregon Health & Science University |
| authorships[1].institutions[0].id | https://openalex.org/I165690674 |
| authorships[1].institutions[0].ror | https://ror.org/009avj582 |
| authorships[1].institutions[0].type | education |
| authorships[1].institutions[0].lineage | https://openalex.org/I165690674 |
| authorships[1].institutions[0].country_code | US |
| authorships[1].institutions[0].display_name | Oregon Health & Science University |
| authorships[1].author_position | middle |
| authorships[1].raw_author_name | Albert N. Alvarez |
| authorships[1].is_corresponding | False |
| authorships[1].raw_affiliation_strings | Department of Molecular Microbiology & Immunology, Oregon Health & Science University |
| authorships[2].author.id | https://openalex.org/A5019362849 |
| authorships[2].author.orcid | https://orcid.org/0000-0001-7345-575X |
| authorships[2].author.display_name | Mengqi Ma |
| authorships[2].countries | US |
| authorships[2].affiliations[0].institution_ids | https://openalex.org/I4210117334, https://openalex.org/I4210147586 |
| authorships[2].affiliations[0].raw_affiliation_string | Jan & Dan Duncan Neurological Research Institute, Texas Children’s Hospital |
| authorships[2].affiliations[1].institution_ids | https://openalex.org/I181547552 |
| authorships[2].affiliations[1].raw_affiliation_string | Department of Molecular and Human Genetics, Baylor College of Medicine |
| authorships[2].institutions[0].id | https://openalex.org/I181547552 |
| authorships[2].institutions[0].ror | https://ror.org/02pttbw34 |
| authorships[2].institutions[0].type | education |
| authorships[2].institutions[0].lineage | https://openalex.org/I181547552, https://openalex.org/I2801539370 |
| authorships[2].institutions[0].country_code | US |
| authorships[2].institutions[0].display_name | Baylor College of Medicine |
| authorships[2].institutions[1].id | https://openalex.org/I4210117334 |
| authorships[2].institutions[1].ror | https://ror.org/02ea83075 |
| authorships[2].institutions[1].type | other |
| authorships[2].institutions[1].lineage | https://openalex.org/I4210117334 |
| authorships[2].institutions[1].country_code | US |
| authorships[2].institutions[1].display_name | Neurological Research Institute |
| authorships[2].institutions[2].id | https://openalex.org/I4210147586 |
| authorships[2].institutions[2].ror | https://ror.org/05cz92x43 |
| authorships[2].institutions[2].type | healthcare |
| authorships[2].institutions[2].lineage | https://openalex.org/I4210147586 |
| authorships[2].institutions[2].country_code | US |
| authorships[2].institutions[2].display_name | Texas Children's Hospital |
| authorships[2].author_position | middle |
| authorships[2].raw_author_name | Mengqi Ma |
| authorships[2].is_corresponding | False |
| authorships[2].raw_affiliation_strings | Department of Molecular and Human Genetics, Baylor College of Medicine, Jan & Dan Duncan Neurological Research Institute, Texas Children’s Hospital |
| authorships[3].author.id | https://openalex.org/A5041042540 |
| authorships[3].author.orcid | https://orcid.org/0000-0003-3117-3900 |
| authorships[3].author.display_name | Shenzhao Lu |
| authorships[3].countries | US |
| authorships[3].affiliations[0].institution_ids | https://openalex.org/I4210117334, https://openalex.org/I4210147586 |
| authorships[3].affiliations[0].raw_affiliation_string | Jan & Dan Duncan Neurological Research Institute, Texas Children’s Hospital |
| authorships[3].affiliations[1].institution_ids | https://openalex.org/I181547552 |
| authorships[3].affiliations[1].raw_affiliation_string | Department of Molecular and Human Genetics, Baylor College of Medicine |
| authorships[3].institutions[0].id | https://openalex.org/I181547552 |
| authorships[3].institutions[0].ror | https://ror.org/02pttbw34 |
| authorships[3].institutions[0].type | education |
| authorships[3].institutions[0].lineage | https://openalex.org/I181547552, https://openalex.org/I2801539370 |
| authorships[3].institutions[0].country_code | US |
| authorships[3].institutions[0].display_name | Baylor College of Medicine |
| authorships[3].institutions[1].id | https://openalex.org/I4210117334 |
| authorships[3].institutions[1].ror | https://ror.org/02ea83075 |
| authorships[3].institutions[1].type | other |
| authorships[3].institutions[1].lineage | https://openalex.org/I4210117334 |
| authorships[3].institutions[1].country_code | US |
| authorships[3].institutions[1].display_name | Neurological Research Institute |
| authorships[3].institutions[2].id | https://openalex.org/I4210147586 |
| authorships[3].institutions[2].ror | https://ror.org/05cz92x43 |
| authorships[3].institutions[2].type | healthcare |
| authorships[3].institutions[2].lineage | https://openalex.org/I4210147586 |
| authorships[3].institutions[2].country_code | US |
| authorships[3].institutions[2].display_name | Texas Children's Hospital |
| authorships[3].author_position | middle |
| authorships[3].raw_author_name | Shenzhao Lu |
| authorships[3].is_corresponding | False |
| authorships[3].raw_affiliation_strings | Department of Molecular and Human Genetics, Baylor College of Medicine, Jan & Dan Duncan Neurological Research Institute, Texas Children’s Hospital |
| authorships[4].author.id | https://openalex.org/A5024426814 |
| authorships[4].author.orcid | https://orcid.org/0000-0001-7779-4636 |
| authorships[4].author.display_name | Michael Crawford |
| authorships[4].countries | US |
| authorships[4].affiliations[0].institution_ids | https://openalex.org/I165690674 |
| authorships[4].affiliations[0].raw_affiliation_string | Department of Molecular Microbiology & Immunology, Oregon Health & Science University |
| authorships[4].institutions[0].id | https://openalex.org/I165690674 |
| authorships[4].institutions[0].ror | https://ror.org/009avj582 |
| authorships[4].institutions[0].type | education |
| authorships[4].institutions[0].lineage | https://openalex.org/I165690674 |
| authorships[4].institutions[0].country_code | US |
| authorships[4].institutions[0].display_name | Oregon Health & Science University |
| authorships[4].author_position | middle |
| authorships[4].raw_author_name | Michael W. Crawford |
| authorships[4].is_corresponding | False |
| authorships[4].raw_affiliation_strings | Department of Molecular Microbiology & Immunology, Oregon Health & Science University |
| authorships[5].author.id | https://openalex.org/A5104385600 |
| authorships[5].author.orcid | https://orcid.org/0000-0002-6599-2907 |
| authorships[5].author.display_name | Lauren C. Briere |
| authorships[5].countries | US |
| authorships[5].affiliations[0].institution_ids | https://openalex.org/I4210087915 |
| authorships[5].affiliations[0].raw_affiliation_string | Center for Genomic Medicine, Massachusetts General Hospital |
| authorships[5].institutions[0].id | https://openalex.org/I4210087915 |
| authorships[5].institutions[0].ror | https://ror.org/002pd6e78 |
| authorships[5].institutions[0].type | healthcare |
| authorships[5].institutions[0].lineage | https://openalex.org/I4210087915, https://openalex.org/I48633490 |
| authorships[5].institutions[0].country_code | US |
| authorships[5].institutions[0].display_name | Massachusetts General Hospital |
| authorships[5].author_position | middle |
| authorships[5].raw_author_name | Lauren C. Briere |
| authorships[5].is_corresponding | False |
| authorships[5].raw_affiliation_strings | Center for Genomic Medicine, Massachusetts General Hospital |
| authorships[6].author.id | https://openalex.org/A5001829116 |
| authorships[6].author.orcid | https://orcid.org/0000-0001-5438-0879 |
| authorships[6].author.display_name | Oguz Kanca |
| authorships[6].countries | US |
| authorships[6].affiliations[0].institution_ids | https://openalex.org/I181547552 |
| authorships[6].affiliations[0].raw_affiliation_string | Department of Molecular and Human Genetics, Baylor College of Medicine |
| authorships[6].affiliations[1].institution_ids | https://openalex.org/I4210117334, https://openalex.org/I4210147586 |
| authorships[6].affiliations[1].raw_affiliation_string | Jan & Dan Duncan Neurological Research Institute, Texas Children’s Hospital |
| authorships[6].institutions[0].id | https://openalex.org/I181547552 |
| authorships[6].institutions[0].ror | https://ror.org/02pttbw34 |
| authorships[6].institutions[0].type | education |
| authorships[6].institutions[0].lineage | https://openalex.org/I181547552, https://openalex.org/I2801539370 |
| authorships[6].institutions[0].country_code | US |
| authorships[6].institutions[0].display_name | Baylor College of Medicine |
| authorships[6].institutions[1].id | https://openalex.org/I4210117334 |
| authorships[6].institutions[1].ror | https://ror.org/02ea83075 |
| authorships[6].institutions[1].type | other |
| authorships[6].institutions[1].lineage | https://openalex.org/I4210117334 |
| authorships[6].institutions[1].country_code | US |
| authorships[6].institutions[1].display_name | Neurological Research Institute |
| authorships[6].institutions[2].id | https://openalex.org/I4210147586 |
| authorships[6].institutions[2].ror | https://ror.org/05cz92x43 |
| authorships[6].institutions[2].type | healthcare |
| authorships[6].institutions[2].lineage | https://openalex.org/I4210147586 |
| authorships[6].institutions[2].country_code | US |
| authorships[6].institutions[2].display_name | Texas Children's Hospital |
| authorships[6].author_position | middle |
| authorships[6].raw_author_name | Oguz Kanca |
| authorships[6].is_corresponding | False |
| authorships[6].raw_affiliation_strings | Department of Molecular and Human Genetics, Baylor College of Medicine, Jan & Dan Duncan Neurological Research Institute, Texas Children’s Hospital |
| authorships[7].author.id | https://openalex.org/A5057632716 |
| authorships[7].author.orcid | https://orcid.org/0000-0003-2172-8036 |
| authorships[7].author.display_name | Shinya Yamamoto |
| authorships[7].countries | US |
| authorships[7].affiliations[0].institution_ids | https://openalex.org/I181547552 |
| authorships[7].affiliations[0].raw_affiliation_string | Department of Neuroscience, Baylor College of Medicine |
| authorships[7].affiliations[1].institution_ids | https://openalex.org/I181547552 |
| authorships[7].affiliations[1].raw_affiliation_string | Department of Molecular and Human Genetics, Baylor College of Medicine |
| authorships[7].affiliations[2].institution_ids | https://openalex.org/I4210117334, https://openalex.org/I4210147586 |
| authorships[7].affiliations[2].raw_affiliation_string | Jan & Dan Duncan Neurological Research Institute, Texas Children’s Hospital |
| authorships[7].institutions[0].id | https://openalex.org/I181547552 |
| authorships[7].institutions[0].ror | https://ror.org/02pttbw34 |
| authorships[7].institutions[0].type | education |
| authorships[7].institutions[0].lineage | https://openalex.org/I181547552, https://openalex.org/I2801539370 |
| authorships[7].institutions[0].country_code | US |
| authorships[7].institutions[0].display_name | Baylor College of Medicine |
| authorships[7].institutions[1].id | https://openalex.org/I4210117334 |
| authorships[7].institutions[1].ror | https://ror.org/02ea83075 |
| authorships[7].institutions[1].type | other |
| authorships[7].institutions[1].lineage | https://openalex.org/I4210117334 |
| authorships[7].institutions[1].country_code | US |
| authorships[7].institutions[1].display_name | Neurological Research Institute |
| authorships[7].institutions[2].id | https://openalex.org/I4210147586 |
| authorships[7].institutions[2].ror | https://ror.org/05cz92x43 |
| authorships[7].institutions[2].type | healthcare |
| authorships[7].institutions[2].lineage | https://openalex.org/I4210147586 |
| authorships[7].institutions[2].country_code | US |
| authorships[7].institutions[2].display_name | Texas Children's Hospital |
| authorships[7].author_position | middle |
| authorships[7].raw_author_name | Shinya Yamamoto |
| authorships[7].is_corresponding | False |
| authorships[7].raw_affiliation_strings | Department of Molecular and Human Genetics, Baylor College of Medicine, Department of Neuroscience, Baylor College of Medicine, Jan & Dan Duncan Neurological Research Institute, Texas Children’s Hospital |
| authorships[8].author.id | https://openalex.org/A5071356246 |
| authorships[8].author.orcid | https://orcid.org/0000-0002-1621-3284 |
| authorships[8].author.display_name | David A. Sweetser |
| authorships[8].countries | US |
| authorships[8].affiliations[0].institution_ids | https://openalex.org/I4210087915 |
| authorships[8].affiliations[0].raw_affiliation_string | Center for Genomic Medicine, Massachusetts General Hospital |
| authorships[8].affiliations[1].institution_ids | https://openalex.org/I4210087915 |
| authorships[8].affiliations[1].raw_affiliation_string | Division of Medical Genetics & Metabolism, Massachusetts General Hospital for Children |
| authorships[8].institutions[0].id | https://openalex.org/I4210087915 |
| authorships[8].institutions[0].ror | https://ror.org/002pd6e78 |
| authorships[8].institutions[0].type | healthcare |
| authorships[8].institutions[0].lineage | https://openalex.org/I4210087915, https://openalex.org/I48633490 |
| authorships[8].institutions[0].country_code | US |
| authorships[8].institutions[0].display_name | Massachusetts General Hospital |
| authorships[8].author_position | middle |
| authorships[8].raw_author_name | David A. Sweetser |
| authorships[8].is_corresponding | False |
| authorships[8].raw_affiliation_strings | Center for Genomic Medicine, Massachusetts General Hospital, Division of Medical Genetics & Metabolism, Massachusetts General Hospital for Children |
| authorships[9].author.id | https://openalex.org/A5064843969 |
| authorships[9].author.orcid | https://orcid.org/0000-0001-6677-869X |
| authorships[9].author.display_name | Jenny L. Wilson |
| authorships[9].countries | US |
| authorships[9].affiliations[0].institution_ids | https://openalex.org/I165690674 |
| authorships[9].affiliations[0].raw_affiliation_string | Division of Pediatric Neurology, Department of Pediatrics, Oregon Health & Science University |
| authorships[9].institutions[0].id | https://openalex.org/I165690674 |
| authorships[9].institutions[0].ror | https://ror.org/009avj582 |
| authorships[9].institutions[0].type | education |
| authorships[9].institutions[0].lineage | https://openalex.org/I165690674 |
| authorships[9].institutions[0].country_code | US |
| authorships[9].institutions[0].display_name | Oregon Health & Science University |
| authorships[9].author_position | middle |
| authorships[9].raw_author_name | Jenny L. Wilson |
| authorships[9].is_corresponding | False |
| authorships[9].raw_affiliation_strings | Division of Pediatric Neurology, Department of Pediatrics, Oregon Health & Science University |
| authorships[10].author.id | https://openalex.org/A5014994984 |
| authorships[10].author.orcid | https://orcid.org/0000-0002-2785-8248 |
| authorships[10].author.display_name | Ruth J. Napier |
| authorships[10].countries | US |
| authorships[10].affiliations[0].institution_ids | https://openalex.org/I165690674 |
| authorships[10].affiliations[0].raw_affiliation_string | Department of Molecular Microbiology & Immunology, Oregon Health & Science University |
| authorships[10].affiliations[1].institution_ids | https://openalex.org/I4210144745 |
| authorships[10].affiliations[1].raw_affiliation_string | VA Portland Health Care System |
| authorships[10].affiliations[2].institution_ids | https://openalex.org/I165690674 |
| authorships[10].affiliations[2].raw_affiliation_string | Division of Arthritis & Rheumatic Diseases, Oregon Health & Science University |
| authorships[10].institutions[0].id | https://openalex.org/I165690674 |
| authorships[10].institutions[0].ror | https://ror.org/009avj582 |
| authorships[10].institutions[0].type | education |
| authorships[10].institutions[0].lineage | https://openalex.org/I165690674 |
| authorships[10].institutions[0].country_code | US |
| authorships[10].institutions[0].display_name | Oregon Health & Science University |
| authorships[10].institutions[1].id | https://openalex.org/I4210144745 |
| authorships[10].institutions[1].ror | https://ror.org/054484h93 |
| authorships[10].institutions[1].type | healthcare |
| authorships[10].institutions[1].lineage | https://openalex.org/I1322918889, https://openalex.org/I2799886695, https://openalex.org/I4210144745 |
| authorships[10].institutions[1].country_code | US |
| authorships[10].institutions[1].display_name | VA Portland Health Care System |
| authorships[10].author_position | middle |
| authorships[10].raw_author_name | Ruth J. Napier |
| authorships[10].is_corresponding | False |
| authorships[10].raw_affiliation_strings | Department of Molecular Microbiology & Immunology, Oregon Health & Science University, Division of Arthritis & Rheumatic Diseases, Oregon Health & Science University, VA Portland Health Care System |
| authorships[11].author.id | https://openalex.org/A5070077864 |
| authorships[11].author.orcid | https://orcid.org/0000-0002-0304-4418 |
| authorships[11].author.display_name | Jonathan N. Pruneda |
| authorships[11].countries | US |
| authorships[11].affiliations[0].institution_ids | https://openalex.org/I165690674 |
| authorships[11].affiliations[0].raw_affiliation_string | Department of Molecular Microbiology & Immunology, Oregon Health & Science University |
| authorships[11].institutions[0].id | https://openalex.org/I165690674 |
| authorships[11].institutions[0].ror | https://ror.org/009avj582 |
| authorships[11].institutions[0].type | education |
| authorships[11].institutions[0].lineage | https://openalex.org/I165690674 |
| authorships[11].institutions[0].country_code | US |
| authorships[11].institutions[0].display_name | Oregon Health & Science University |
| authorships[11].author_position | middle |
| authorships[11].raw_author_name | Jonathan N. Pruneda |
| authorships[11].is_corresponding | False |
| authorships[11].raw_affiliation_strings | Department of Molecular Microbiology & Immunology, Oregon Health & Science University |
| authorships[12].author.id | https://openalex.org/A5026995692 |
| authorships[12].author.orcid | https://orcid.org/0000-0001-5992-5989 |
| authorships[12].author.display_name | Hugo J. Bellen |
| authorships[12].countries | US |
| authorships[12].affiliations[0].institution_ids | https://openalex.org/I181547552 |
| authorships[12].affiliations[0].raw_affiliation_string | Department of Neuroscience, Baylor College of Medicine |
| authorships[12].affiliations[1].institution_ids | https://openalex.org/I181547552 |
| authorships[12].affiliations[1].raw_affiliation_string | Department of Molecular and Human Genetics, Baylor College of Medicine |
| authorships[12].affiliations[2].institution_ids | https://openalex.org/I4210117334, https://openalex.org/I4210147586 |
| authorships[12].affiliations[2].raw_affiliation_string | Jan & Dan Duncan Neurological Research Institute, Texas Children’s Hospital |
| authorships[12].institutions[0].id | https://openalex.org/I181547552 |
| authorships[12].institutions[0].ror | https://ror.org/02pttbw34 |
| authorships[12].institutions[0].type | education |
| authorships[12].institutions[0].lineage | https://openalex.org/I181547552, https://openalex.org/I2801539370 |
| authorships[12].institutions[0].country_code | US |
| authorships[12].institutions[0].display_name | Baylor College of Medicine |
| authorships[12].institutions[1].id | https://openalex.org/I4210117334 |
| authorships[12].institutions[1].ror | https://ror.org/02ea83075 |
| authorships[12].institutions[1].type | other |
| authorships[12].institutions[1].lineage | https://openalex.org/I4210117334 |
| authorships[12].institutions[1].country_code | US |
| authorships[12].institutions[1].display_name | Neurological Research Institute |
| authorships[12].institutions[2].id | https://openalex.org/I4210147586 |
| authorships[12].institutions[2].ror | https://ror.org/05cz92x43 |
| authorships[12].institutions[2].type | healthcare |
| authorships[12].institutions[2].lineage | https://openalex.org/I4210147586 |
| authorships[12].institutions[2].country_code | US |
| authorships[12].institutions[2].display_name | Texas Children's Hospital |
| authorships[12].author_position | last |
| authorships[12].raw_author_name | Hugo J. Bellen |
| authorships[12].is_corresponding | False |
| authorships[12].raw_affiliation_strings | Department of Molecular and Human Genetics, Baylor College of Medicine, Department of Neuroscience, Baylor College of Medicine, Jan & Dan Duncan Neurological Research Institute, Texas Children’s Hospital |
| has_content.pdf | False |
| has_content.grobid_xml | False |
| is_paratext | False |
| open_access.is_oa | True |
| open_access.oa_url | https://doi.org/10.7554/elife.89891.1 |
| open_access.oa_status | gold |
| open_access.any_repository_has_fulltext | False |
| created_date | 2025-10-10T00:00:00 |
| display_name | Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays |
| has_fulltext | False |
| is_retracted | False |
| updated_date | 2025-11-25T14:43:58.451035 |
| primary_topic.id | https://openalex.org/T10617 |
| primary_topic.field.id | https://openalex.org/fields/13 |
| primary_topic.field.display_name | Biochemistry, Genetics and Molecular Biology |
| primary_topic.score | 0.9980999827384949 |
| primary_topic.domain.id | https://openalex.org/domains/1 |
| primary_topic.domain.display_name | Life Sciences |
| primary_topic.subfield.id | https://openalex.org/subfields/1307 |
| primary_topic.subfield.display_name | Cell Biology |
| primary_topic.display_name | Cellular transport and secretion |
| related_works | https://openalex.org/W2138350991, https://openalex.org/W1566729005, https://openalex.org/W2409285845, https://openalex.org/W2434195791, https://openalex.org/W1994342570, https://openalex.org/W2562771455, https://openalex.org/W2054843986, https://openalex.org/W2116210813, https://openalex.org/W2440701365, https://openalex.org/W2433842723 |
| cited_by_count | 3 |
| counts_by_year[0].year | 2025 |
| counts_by_year[0].cited_by_count | 1 |
| counts_by_year[1].year | 2024 |
| counts_by_year[1].cited_by_count | 2 |
| locations_count | 1 |
| best_oa_location.id | doi:10.7554/elife.89891.1 |
| best_oa_location.is_oa | True |
| best_oa_location.source | |
| best_oa_location.license | cc-by |
| best_oa_location.pdf_url | |
| best_oa_location.version | acceptedVersion |
| best_oa_location.raw_type | posted-content |
| best_oa_location.license_id | https://openalex.org/licenses/cc-by |
| best_oa_location.is_accepted | True |
| best_oa_location.is_published | False |
| best_oa_location.raw_source_name | |
| best_oa_location.landing_page_url | https://doi.org/10.7554/elife.89891.1 |
| primary_location.id | doi:10.7554/elife.89891.1 |
| primary_location.is_oa | True |
| primary_location.source | |
| primary_location.license | cc-by |
| primary_location.pdf_url | |
| primary_location.version | acceptedVersion |
| primary_location.raw_type | posted-content |
| primary_location.license_id | https://openalex.org/licenses/cc-by |
| primary_location.is_accepted | True |
| primary_location.is_published | False |
| primary_location.raw_source_name | |
| primary_location.landing_page_url | https://doi.org/10.7554/elife.89891.1 |
| publication_date | 2023-08-08 |
| publication_year | 2023 |
| referenced_works | https://openalex.org/W2755949806, https://openalex.org/W1988820070, https://openalex.org/W2107157703, https://openalex.org/W2151326362, https://openalex.org/W3011086273, https://openalex.org/W2590813565, https://openalex.org/W2510747145, https://openalex.org/W2901828909, https://openalex.org/W2035505151, https://openalex.org/W2256349865, https://openalex.org/W2993538237, https://openalex.org/W4309666153, https://openalex.org/W2061026903, https://openalex.org/W3184013524, https://openalex.org/W2290947852, https://openalex.org/W2756007241, https://openalex.org/W3093960553, https://openalex.org/W2021152920, https://openalex.org/W1990588070, https://openalex.org/W3201968114, https://openalex.org/W2765268771, https://openalex.org/W2790947724, https://openalex.org/W3010852509, https://openalex.org/W3049399239, https://openalex.org/W2808156726, https://openalex.org/W4214807084, https://openalex.org/W4302306821, https://openalex.org/W4306731527, https://openalex.org/W2781990467, https://openalex.org/W2802638204, https://openalex.org/W4289667563, https://openalex.org/W4317690277, https://openalex.org/W2512264989, https://openalex.org/W2800971173, https://openalex.org/W3122025198, https://openalex.org/W2523685127, https://openalex.org/W2597758717, https://openalex.org/W4296323389, https://openalex.org/W2921490676, https://openalex.org/W3086201228, https://openalex.org/W4363677338, https://openalex.org/W2089667236, https://openalex.org/W2900334550, https://openalex.org/W2080972425, https://openalex.org/W2071886985, https://openalex.org/W4365141423, https://openalex.org/W2138057005, https://openalex.org/W1979400866, https://openalex.org/W2114836858, https://openalex.org/W2909869524, https://openalex.org/W2979414255, https://openalex.org/W2916517216, https://openalex.org/W3183046127, https://openalex.org/W2019536258, https://openalex.org/W2032053493, https://openalex.org/W2918631811, https://openalex.org/W3006862822 |
| referenced_works_count | 57 |
| abstract_inverted_index.A | 124 |
| abstract_inverted_index.a | 80, 109, 151, 162, 189, 201 |
| abstract_inverted_index.44 | 29 |
| abstract_inverted_index.By | 174 |
| abstract_inverted_index.E1 | 6 |
| abstract_inverted_index.ER | 15 |
| abstract_inverted_index.In | 105 |
| abstract_inverted_index.We | 78 |
| abstract_inverted_index.an | 31 |
| abstract_inverted_index.as | 59, 198, 200 |
| abstract_inverted_index.at | 52 |
| abstract_inverted_index.be | 76 |
| abstract_inverted_index.by | 36, 51 |
| abstract_inverted_index.in | 12, 18, 89, 93, 96, 114, 132, 155, 158, 180, 183 |
| abstract_inverted_index.is | 49, 150 |
| abstract_inverted_index.of | 4, 61, 112, 126, 164 |
| abstract_inverted_index.or | 71 |
| abstract_inverted_index.to | 75, 91 |
| abstract_inverted_index.we | 107 |
| abstract_inverted_index.ATP | 141 |
| abstract_inverted_index.LoF | 165 |
| abstract_inverted_index.and | 14, 26, 46, 69, 85, 95, 121, 145, 157, 170, 182, 194, 206 |
| abstract_inverted_index.are | 22 |
| abstract_inverted_index.but | 64 |
| abstract_inverted_index.fly | 83 |
| abstract_inverted_index.for | 138, 191, 203 |
| abstract_inverted_index.the | 5, 19, 65, 101 |
| abstract_inverted_index.was | 129 |
| abstract_inverted_index.UBA5 | 8, 20, 82, 102, 177, 196 |
| abstract_inverted_index.UFM1 | 143, 146 |
| abstract_inverted_index.also | 130 |
| abstract_inverted_index.bang | 122 |
| abstract_inverted_index.gene | 21 |
| abstract_inverted_index.into | 167 |
| abstract_inverted_index.loss | 60 |
| abstract_inverted_index.more | 192 |
| abstract_inverted_index.rare | 212 |
| abstract_inverted_index.this | 186, 211 |
| abstract_inverted_index.vivo | 94, 156, 181 |
| abstract_inverted_index.well | 199 |
| abstract_inverted_index.with | 24, 210 |
| abstract_inverted_index.DEE44 | 48 |
| abstract_inverted_index.basic | 193 |
| abstract_inverted_index.basis | 202 |
| abstract_inverted_index.broad | 110 |
| abstract_inverted_index.least | 53 |
| abstract_inverted_index.mild, | 168 |
| abstract_inverted_index.model | 84 |
| abstract_inverted_index.order | 90 |
| abstract_inverted_index.plays | 9 |
| abstract_inverted_index.range | 125 |
| abstract_inverted_index.roles | 11 |
| abstract_inverted_index.study | 187 |
| abstract_inverted_index.there | 149 |
| abstract_inverted_index.vitro | 97, 133, 159, 184 |
| abstract_inverted_index.vivo, | 106 |
| abstract_inverted_index.(LoF), | 63 |
| abstract_inverted_index.across | 100, 134, 179 |
| abstract_inverted_index.assays | 88, 137 |
| abstract_inverted_index.caused | 50 |
| abstract_inverted_index.delay, | 43 |
| abstract_inverted_index.enzyme | 7 |
| abstract_inverted_index.future | 207 |
| abstract_inverted_index.global | 41 |
| abstract_inverted_index.severe | 171 |
| abstract_inverted_index.strong | 152 |
| abstract_inverted_index.twelve | 54 |
| abstract_inverted_index.Protein | 1 |
| abstract_inverted_index.allelic | 103, 172 |
| abstract_inverted_index.between | 67, 154 |
| abstract_inverted_index.current | 205 |
| abstract_inverted_index.effects | 128 |
| abstract_inverted_index.protein | 139 |
| abstract_inverted_index.remains | 74 |
| abstract_inverted_index.series. | 104 |
| abstract_inverted_index.stress. | 16 |
| abstract_inverted_index.timing, | 117 |
| abstract_inverted_index.(DEE44), | 30 |
| abstract_inverted_index.Abstract | 0 |
| abstract_inverted_index.Variants | 17 |
| abstract_inverted_index.activity | 87 |
| abstract_inverted_index.binding, | 142 |
| abstract_inverted_index.clinical | 72 |
| abstract_inverted_index.describe | 92 |
| abstract_inverted_index.disease. | 213 |
| abstract_inverted_index.disorder | 34 |
| abstract_inverted_index.function | 62 |
| abstract_inverted_index.missense | 56 |
| abstract_inverted_index.movement | 39 |
| abstract_inverted_index.observed | 108, 131 |
| abstract_inverted_index.provides | 188 |
| abstract_inverted_index.spectrum | 111 |
| abstract_inverted_index.variants | 57, 166, 178 |
| abstract_inverted_index.activity, | 120 |
| abstract_inverted_index.afflicted | 209 |
| abstract_inverted_index.autosomal | 32 |
| abstract_inverted_index.described | 58 |
| abstract_inverted_index.developed | 79 |
| abstract_inverted_index.different | 55 |
| abstract_inverted_index.epileptic | 27 |
| abstract_inverted_index.essential | 10 |
| abstract_inverted_index.genotypes | 68 |
| abstract_inverted_index.humanized | 81 |
| abstract_inverted_index.lifespan, | 118 |
| abstract_inverted_index.locomotor | 119 |
| abstract_inverted_index.molecular | 70 |
| abstract_inverted_index.recessive | 33 |
| abstract_inverted_index.research, | 197 |
| abstract_inverted_index.seizures. | 47 |
| abstract_inverted_index.UFMylation | 2 |
| abstract_inverted_index.associated | 23 |
| abstract_inverted_index.downstream | 3 |
| abstract_inverted_index.evaluating | 176, 204 |
| abstract_inverted_index.foundation | 190 |
| abstract_inverted_index.functional | 127 |
| abstract_inverted_index.phenotypes | 73, 113 |
| abstract_inverted_index.platforms, | 185 |
| abstract_inverted_index.stability, | 140 |
| abstract_inverted_index.strengths. | 173 |
| abstract_inverted_index.viability, | 115 |
| abstract_inverted_index.activation, | 144 |
| abstract_inverted_index.biochemical | 86, 136 |
| abstract_inverted_index.correlation | 153 |
| abstract_inverted_index.development | 13 |
| abstract_inverted_index.disability, | 45 |
| abstract_inverted_index.early-onset | 37 |
| abstract_inverted_index.individuals | 208 |
| abstract_inverted_index.phenotypes, | 160 |
| abstract_inverted_index.Importantly, | 148 |
| abstract_inverted_index.established. | 77 |
| abstract_inverted_index.establishing | 161 |
| abstract_inverted_index.intellectual | 44 |
| abstract_inverted_index.sensitivity. | 123 |
| abstract_inverted_index.systemically | 175 |
| abstract_inverted_index.characterized | 35 |
| abstract_inverted_index.comprehensive | 135 |
| abstract_inverted_index.developmental | 25, 42, 116 |
| abstract_inverted_index.intermediate, | 169 |
| abstract_inverted_index.relationships | 66, 99 |
| abstract_inverted_index.translational | 195 |
| abstract_inverted_index.abnormalities, | 40 |
| abstract_inverted_index.classification | 163 |
| abstract_inverted_index.encephalopathy | 28 |
| abstract_inverted_index.encephalopathy, | 38 |
| abstract_inverted_index.transthiolation. | 147 |
| abstract_inverted_index.genotype-phenotype | 98 |
| cited_by_percentile_year.max | 96 |
| cited_by_percentile_year.min | 91 |
| countries_distinct_count | 1 |
| institutions_distinct_count | 13 |
| citation_normalized_percentile.value | 0.71586503 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |