Cln3‐mutations underlying juvenile neuronal ceroid lipofuscinosis cause significantly reduced levels of Palmitoyl‐protein thioesterases‐1 (Ppt1)‐protein and Ppt1‐enzyme activity in the lysosome Article Swipe
Abhilash P. Appu
,
Maria B. Bagh
,
Tamal Sadhukhan
,
Avisek Mondal
,
Sydney Casey
,
Anil B. Mukherjee
·
YOU?
·
· 2019
· Open Access
·
· DOI: https://doi.org/10.1002/jimd.12106
YOU?
·
· 2019
· Open Access
·
· DOI: https://doi.org/10.1002/jimd.12106
Mutations in at least 13 different genes (called CLN s) underlie various forms of neuronal ceroid lipofuscinoses (NCLs), a group of the most common neurodegenerative lysosomal storage diseases. While inactivating mutations in the CLN1 gene, encoding palmitoyl‐protein thioesterases‐1 (PPT1), cause infantile NCL (INCL), those in the CLN3 gene, encoding a protein of unknown function, underlie juvenile NCL (JNCL). PPT1 depalmitoylates S‐palmitoylated proteins (constituents of ceroid) required for their degradation by lysosomal hydrolases and PPT1‐deficiency causes lysosomal accumulation of autofluorescent ceroid leading to INCL. Because intracellular accumulation of ceroid is a characteristic of all NCLs, a common pathogenic link for these diseases has been suggested. It has been reported that CLN3 ‐mutations suppress the exit of cation‐independent mannose 6‐phosphate receptor (CI‐M6PR) from the trans Golgi network (TGN). Because CI‐M6PR transports soluble proteins such as PPT1 from the TGN to the lysosome, we hypothesized that CLN3 ‐mutations may cause lysosomal PPT1‐insufficiency contributing to JNCL pathogenesis. Here, we report that the lysosomes in Cln3 ‐mutant mice, which mimic JNCL, and those in cultured cells from JNCL patients, contain significantly reduced levels of Ppt1‐protein and Ppt1‐enzyme activity and progressively accumulate autofluorescent ceroid. Furthermore, in JNCL fibroblasts the V0a1 subunit of v‐ATPase, which regulates lysosomal acidification, is mislocalized to the plasma membrane instead of its normal location on lysosomal membrane. This defect dysregulates lysosomal acidification, as we previously reported in Cln1 −/− mice, which mimic INCL. Our findings uncover a previously unrecognized role of CLN3 in lysosomal homeostasis and suggest that CLN3 ‐mutations causing lysosomal Ppt1‐insuffiiciency may at least in part contribute to JNCL pathogenesis.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1002/jimd.12106
- OA Status
- green
- Cited By
- 21
- References
- 44
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W2940601524
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W2940601524Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1002/jimd.12106Digital Object Identifier
- Title
-
Cln3‐mutations underlying juvenile neuronal ceroid lipofuscinosis cause significantly reduced levels of Palmitoyl‐protein thioesterases‐1 (Ppt1)‐protein and Ppt1‐enzyme activity in the lysosomeWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2019Year of publication
- Publication date
-
2019-04-26Full publication date if available
- Authors
-
Abhilash P. Appu, Maria B. Bagh, Tamal Sadhukhan, Avisek Mondal, Sydney Casey, Anil B. MukherjeeList of authors in order
- Landing page
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https://doi.org/10.1002/jimd.12106Publisher landing page
- Open access
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YesWhether a free full text is available
- OA status
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greenOpen access status per OpenAlex
- OA URL
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https://www.ncbi.nlm.nih.gov/pmc/articles/6739123Direct OA link when available
- Concepts
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Neuronal ceroid lipofuscinosis, Batten disease, Lysosome, Biology, Cell biology, Biochemistry, Neurodegeneration, Mutant, Lipofuscin, Enzyme, Gene, Disease, Medicine, PathologyTop concepts (fields/topics) attached by OpenAlex
- Cited by
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21Total citation count in OpenAlex
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2025: 3, 2024: 1, 2023: 5, 2022: 3, 2021: 3Per-year citation counts (last 5 years)
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44Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.mannose | 117 |
| abstract_inverted_index.network | 125 |
| abstract_inverted_index.protein | 51 |
| abstract_inverted_index.reduced | 177 |
| abstract_inverted_index.soluble | 130 |
| abstract_inverted_index.storage | 27 |
| abstract_inverted_index.subunit | 195 |
| abstract_inverted_index.suggest | 245 |
| abstract_inverted_index.uncover | 234 |
| abstract_inverted_index.unknown | 53 |
| abstract_inverted_index.various | 12 |
| abstract_inverted_index.−/− | 227 |
| abstract_inverted_index.Abstract | 0 |
| abstract_inverted_index.activity | 183 |
| abstract_inverted_index.cultured | 170 |
| abstract_inverted_index.diseases | 101 |
| abstract_inverted_index.encoding | 36, 49 |
| abstract_inverted_index.findings | 233 |
| abstract_inverted_index.juvenile | 56 |
| abstract_inverted_index.location | 212 |
| abstract_inverted_index.membrane | 207 |
| abstract_inverted_index.neuronal | 15 |
| abstract_inverted_index.proteins | 62, 131 |
| abstract_inverted_index.receptor | 119 |
| abstract_inverted_index.reported | 108, 224 |
| abstract_inverted_index.required | 66 |
| abstract_inverted_index.suppress | 112 |
| abstract_inverted_index.underlie | 11, 55 |
| abstract_inverted_index.CI‐M6PR | 128 |
| abstract_inverted_index.Mutations | 1 |
| abstract_inverted_index.different | 6 |
| abstract_inverted_index.diseases. | 28 |
| abstract_inverted_index.function, | 54 |
| abstract_inverted_index.infantile | 41 |
| abstract_inverted_index.lysosomal | 26, 71, 76, 148, 200, 214, 219, 242, 250 |
| abstract_inverted_index.lysosome, | 140 |
| abstract_inverted_index.lysosomes | 159 |
| abstract_inverted_index.membrane. | 215 |
| abstract_inverted_index.mutations | 31 |
| abstract_inverted_index.patients, | 174 |
| abstract_inverted_index.regulates | 199 |
| abstract_inverted_index.‐mutant | 162 |
| abstract_inverted_index.accumulate | 186 |
| abstract_inverted_index.contribute | 257 |
| abstract_inverted_index.hydrolases | 72 |
| abstract_inverted_index.pathogenic | 97 |
| abstract_inverted_index.previously | 223, 236 |
| abstract_inverted_index.suggested. | 104 |
| abstract_inverted_index.transports | 129 |
| abstract_inverted_index.(CI‐M6PR) | 120 |
| abstract_inverted_index.degradation | 69 |
| abstract_inverted_index.fibroblasts | 192 |
| abstract_inverted_index.homeostasis | 243 |
| abstract_inverted_index.v‐ATPase, | 197 |
| abstract_inverted_index.Furthermore, | 189 |
| abstract_inverted_index.accumulation | 77, 86 |
| abstract_inverted_index.contributing | 150 |
| abstract_inverted_index.dysregulates | 218 |
| abstract_inverted_index.hypothesized | 142 |
| abstract_inverted_index.inactivating | 30 |
| abstract_inverted_index.mislocalized | 203 |
| abstract_inverted_index.unrecognized | 237 |
| abstract_inverted_index.‐mutations | 111, 145, 248 |
| abstract_inverted_index.(constituents | 63 |
| abstract_inverted_index.6‐phosphate | 118 |
| abstract_inverted_index.Ppt1‐enzyme | 182 |
| abstract_inverted_index.intracellular | 85 |
| abstract_inverted_index.pathogenesis. | 153, 260 |
| abstract_inverted_index.progressively | 185 |
| abstract_inverted_index.significantly | 176 |
| abstract_inverted_index.Ppt1‐protein | 180 |
| abstract_inverted_index.acidification, | 201, 220 |
| abstract_inverted_index.characteristic | 91 |
| abstract_inverted_index.lipofuscinoses | 17 |
| abstract_inverted_index.autofluorescent | 79, 187 |
| abstract_inverted_index.depalmitoylates | 60 |
| abstract_inverted_index.PPT1‐deficiency | 74 |
| abstract_inverted_index.S‐palmitoylated | 61 |
| abstract_inverted_index.neurodegenerative | 25 |
| abstract_inverted_index.thioesterases‐1 | 38 |
| abstract_inverted_index.palmitoyl‐protein | 37 |
| abstract_inverted_index.PPT1‐insufficiency | 149 |
| abstract_inverted_index.cation‐independent | 116 |
| abstract_inverted_index.Ppt1‐insuffiiciency | 251 |
| cited_by_percentile_year.max | 98 |
| cited_by_percentile_year.min | 90 |
| corresponding_author_ids | https://openalex.org/A5080111130, https://openalex.org/A5027781355, https://openalex.org/A5009025004, https://openalex.org/A5085668290, https://openalex.org/A5019730791, https://openalex.org/A5071541856 |
| countries_distinct_count | 1 |
| institutions_distinct_count | 6 |
| corresponding_institution_ids | https://openalex.org/I1299303238, https://openalex.org/I4210144228 |
| citation_normalized_percentile.value | 0.82939573 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |