William A. Gahl
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View article: Profiling glycosphingolipid changes in mouse and human cellular models of lysosomal free sialic acid storage disorder
Profiling glycosphingolipid changes in mouse and human cellular models of lysosomal free sialic acid storage disorder Open
View article: Lysosomal free sialic acid storage disorder iPSC-derived neural cells display altered glycosphingolipid metabolism
Lysosomal free sialic acid storage disorder iPSC-derived neural cells display altered glycosphingolipid metabolism Open
Lysosomal free sialic acid storage disorder (FSASD) is a rare neurodegenerative disease caused by biallelic mutations in SLC17A5 , encoding the lysosomal sialic acid exporter, SLC17A5 (sialin). While the involvement of oligodendroglia in F…
View article: BK channel activity in skin fibroblasts from patients with neurological disorder
BK channel activity in skin fibroblasts from patients with neurological disorder Open
Seventy-five unique variants in the KCNMA1 gene have been identified from individuals with neurological disorders. However, variant pathogenicity and evidence for disease causality are lacking in most cases. In this study, the KC…
View article: Neurodevelopmental Phenotyping and Genotyping in the Pediatric National Institute of Health Undiagnosed Disease Program
Neurodevelopmental Phenotyping and Genotyping in the Pediatric National Institute of Health Undiagnosed Disease Program Open
The National Institute of Health (NIH) Undiagnosed Diseases Program (UDP) is an NIH project with the goal of providing both a comprehensive diagnosis and a better understanding of the many mechanisms of disease for patients with rare and u…
View article: A murine model lacking Lyst recapitulates Chediak-Higashi syndrome with an earlier-onset neurodegenerative phenotype
A murine model lacking Lyst recapitulates Chediak-Higashi syndrome with an earlier-onset neurodegenerative phenotype Open
Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder caused by pathogenic variants in the lysosomal trafficking regulator ( LYST ) gene and characterized by significant immunological and neurological impairment. Current m…
View article: Dissecting the impact of N-acetylmannosamine (ManNAc) on ganglioside levels in a sialin-deficient cell model
Dissecting the impact of N-acetylmannosamine (ManNAc) on ganglioside levels in a sialin-deficient cell model Open
Lysosomal free sialic acid storage disorder (FSASD) is an ultra-rare neurodegenerative condition caused by mutations in SLC17A5, which encodes the lysosomal sialic acid exporter, sialin. Deficiency of sialin leads to lysosomal accum…
View article: An atypical presentation of infiltrative diffuse low-grade glioma in an adolescent: case report
An atypical presentation of infiltrative diffuse low-grade glioma in an adolescent: case report Open
Background Diffuse low-grade gliomas (dLGG) are rare slow growing brain tumors. Symptoms associated with dLGG typically include seizures, hemiparesis, ataxia, behavioral changes, headaches, and tremors. In this study, we present the case o…
View article: A Multi-State Structural Genomics Approach Enables Large-Scale, Mechanistic, and Context-Specific Classification of ABCC6 Genetic Variants Implicated in Calcification Diseases
A Multi-State Structural Genomics Approach Enables Large-Scale, Mechanistic, and Context-Specific Classification of ABCC6 Genetic Variants Implicated in Calcification Diseases Open
Purpose Genetic variation in ATP Binding Cassette Subfamily C Member 6 (ABCC6) can cause both pseudoxanthoma elasticum (PXE) and generalized arterial calcification of infancy (GACI). Despite both diseases being rare, there are already 930 …
View article: Abstract 2820 Absence of HPS1 protein results in an alteration in the cellular lipid content of Hermansky-Pudlak Syndrome patients
Abstract 2820 Absence of HPS1 protein results in an alteration in the cellular lipid content of Hermansky-Pudlak Syndrome patients Open
View article: Brain Age Prediction in Type II GM1 Gangliosidosis
Brain Age Prediction in Type II GM1 Gangliosidosis Open
GM1 gangliosidosis is an inherited, progressive, and fatal neurodegenerative lysosomal storage disorder with no approved treatment. We calculated a predicted brain ages and Brain Structures Age Gap Estimation (BSAGE) for 81 MRI scans from …
View article: HMGCS1 Deficiency Is a Novel Immunometabolic Autoinflammatory Disease with Progressive Myositis
HMGCS1 Deficiency Is a Novel Immunometabolic Autoinflammatory Disease with Progressive Myositis Open
The mevalonate kinase (MVK) pathway is an essential metabolic pathway for sterol and isoprenoid synthesis. Non-sterol isoprenoids have critical biological functions in the post-translational modifications of numerous signaling molecules vi…
View article: A Case for Automated Segmentation of MRI Data in Neurodegenerative Diseases: Type II GM1 Gangliosidosis
A Case for Automated Segmentation of MRI Data in Neurodegenerative Diseases: Type II GM1 Gangliosidosis Open
Background: Volumetric analysis and segmentation of magnetic resonance imaging (MRI) data is an important tool for evaluating neurological disease progression and neurodevelopment. Fully automated segmentation pipelines offer faster and mo…
View article: Retrospective assessment of clinical global impression of severity and change in GM1 gangliosidosis: a tool to score natural history data in rare disease cohorts
Retrospective assessment of clinical global impression of severity and change in GM1 gangliosidosis: a tool to score natural history data in rare disease cohorts Open
Background Clinical trials for rare diseases pose unique challenges warranting alternative approaches in demonstrating treatment efficacy. Such trials face challenges including small patient populations, variable onset of symptoms and rate…
View article: Lack of significant ganglioside changes in Slc17a5 heterozygous mice: Relevance to FSASD and Parkinson's disease
Lack of significant ganglioside changes in Slc17a5 heterozygous mice: Relevance to FSASD and Parkinson's disease Open
View article: Clinical, Laboratory, and Imaging Features Associated with Arginine Vasopressin Deficiency (Central Diabetes Insipidus) in Erdheim–Chester Disease (ECD)
Clinical, Laboratory, and Imaging Features Associated with Arginine Vasopressin Deficiency (Central Diabetes Insipidus) in Erdheim–Chester Disease (ECD) Open
Purpose: Erdheim–Chester disease (ECD) is an L Group Langerhans histiocytosis associated with pathogenic variants within the MAPK pathways, most commonly the BRAF gene. We analyzed prevalence, genetic, biochemical, and pituitary imaging fe…
View article: A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions
A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions Open
Background Undiagnosed rare diseases (URDs) are a complex and multifaceted challenge, especially in low-and medium-income countries. They affect individuals with unique clinical features and lack a clear diagnostic label. Although the Undi…
View article: A Case for Automated Segmentation of MRI Data in Milder Neurodegenerative Diseases
A Case for Automated Segmentation of MRI Data in Milder Neurodegenerative Diseases Open
Background Volumetric analysis and segmentation of magnetic resonance imaging (MRI) data is an important tool for evaluating neurological disease progression and neurodevelopment. Fully automated segmentation pipelines offer faster and mor…
View article: <i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. Open
Heterozygous mutations in KMT2B are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at disease presentation, evolving through a caud…
View article: Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients
Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients Open
View article: Leukoencephalopathy, brain calcifications, and cysts (LCC): Two unique cases
Leukoencephalopathy, brain calcifications, and cysts (LCC): Two unique cases Open
Leukoencephalopathy with brain calcifications and cysts (LCC), also known as Labrune Syndrome, is a rare cerebral microangiopathy caused by biallelic variants in the SNORD118 gene, which encodes the small nucleolar RNA (snoRNA) U8, …
View article: Changes in glycosphingolipid levels in plasma and cerebrospinal fluid of individuals with Lysosomal Free Sialic Acid Storage Disorder
Changes in glycosphingolipid levels in plasma and cerebrospinal fluid of individuals with Lysosomal Free Sialic Acid Storage Disorder Open
Lysosomal free sialic acid storage disorder (FSASD) is a rare, multisystem disease caused by biallelic pathogenic variants in SLC17A5, encoding the lysosomal transmembrane sialic acid exporter, sialin. Defective sialin function lead…
View article: Insights into the renal pathophysiology in Hermansky‐Pudlak syndrome‐1 from urinary extracellular vesicle proteomics and a new mouse model
Insights into the renal pathophysiology in Hermansky‐Pudlak syndrome‐1 from urinary extracellular vesicle proteomics and a new mouse model Open
Hermansky‐Pudlak syndrome type 1 (HPS‐1) is a rare, autosomal recessive disorder caused by defects in the biogenesis of lysosome‐related organelles complex‐3 (BLOC‐3). Impaired kidney function is among its clinical manifestations. To inves…
View article: Variants in WASHC3, a component of the WASH complex, cause short stature, variable neurodevelopmental abnormalities, and distinctive facial dysmorphism
Variants in WASHC3, a component of the WASH complex, cause short stature, variable neurodevelopmental abnormalities, and distinctive facial dysmorphism Open
In combination with prior studies of WASH complex proteins, our findings provide evidence that the WASH complex is required for normal skeletal growth and that, consequently, genetic abnormalities impairing the function of the WASH complex…
View article: Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features
Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features Open
DDX41 (DEAD‑box helicase 41) is a member of the largest family of RNA helicases. The DEAD-box RNA helicases share a highly conserved core structure and regulate all aspects of RNA metabolism. The functional role of DDX41 in innate immunity…
View article: Generation and characterization of two iPSC lines derived from subjects with Free Sialic Acid Storage Disorder (FSASD)
Generation and characterization of two iPSC lines derived from subjects with Free Sialic Acid Storage Disorder (FSASD) Open
View article: 7096 Variants in WASHC3, a component of the WASH complex, cause distinctive facial dysmorphism, short stature, and variable neurodevelopmental abnormalities
7096 Variants in WASHC3, a component of the WASH complex, cause distinctive facial dysmorphism, short stature, and variable neurodevelopmental abnormalities Open
Disclosure: Y. Jee: None. J. Lui: None. D. Marafi: None. Z. Xia: None. R. Bhatia: None. E. Zhou: None. I. Herman: None. A.G. Temnycky: None. P. Whalen: None. G. Elliot: None. E. Leschek: None. R. Wijngaard: None. R. Beek: None. A. Vreugd: …
View article: Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder
Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder Open
View article: Impact of Food on the Oral Absorption of N‐Acetyl‐D‐Mannosamine in Healthy Men and Women
Impact of Food on the Oral Absorption of N‐Acetyl‐D‐Mannosamine in Healthy Men and Women Open
N‐Acetyl‐D‐mannosamine (ManNAc) is an endogenous monosaccharide and precursor of N‐acetylneuraminic acid (Neu5Ac), a critical sialic acid. ManNAc is currently under clinical development to treat GNE myopathy, a rare muscle‐wasting disease.…
View article: Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans Open
Nucleic acid–sensing Toll-like receptors (TLR) 3, 7/8, and 9 are key innate immune sensors whose activities must be tightly regulated to prevent systemic autoimmune or autoinflammatory disease or virus-associated immunopathology. Here, we …
View article: Anandamide is an Early Blood Biomarker of Hermansky-Pudlak Syndrome Pulmonary Fibrosis
Anandamide is an Early Blood Biomarker of Hermansky-Pudlak Syndrome Pulmonary Fibrosis Open
Hermansky-Pudlak syndrome (HPS) is a group of rare genetic disorders, with several subtypes leading to fatal adult-onset pulmonary fibrosis (PF) and no effective treatment. Circulating biomarkers detecting early PF have not been identified…