Dysregulation of the NLRP3 Inflammasome and Promotion of Disease by IL-1β in a Murine Model of Sandhoff Disease. [PDF]
CellsSandhoff disease (SD) is a progressive neurodegenerative lysosomal storage disorder characterized by GM2 ganglioside accumulation as a result of mutations in the HEXB gene, which encodes the β-subunit of the enzyme β-hexosaminidase.
Platt N +8 more
europepmc +3 more sources
Gene therapy for the leukodystrophies: From preclinical animal studies to clinical trials [PDF]
NeurotherapeuticsLeukodystrophies are progressive single gene disorders affecting the white matter of the brain. Several gene therapy trials are in progress to address the urgent unmet need for this patient population.
Jasna Metovic +3 more
doaj +2 more sources
Therapeutic Effects of Nizubaglustat in a Mouse Model of GM2 Gangliosidosis. [PDF]
J Inherit Metab DisABSTRACT Nizubaglustat is a novel selective inhibitor of glucosylceramide synthase (GCS) and the non‐lysosomal glucocerebrosidase (NLGase, GbA2) with brain penetrant properties. It is currently in clinical development as an oral treatment for rare lysosomal storage diseases with neurological involvement. One such disease group called GM2 gangliosidosis,
Landskroner K +3 more
europepmc +2 more sources
Clinical outcome assessments of disease burden and progression in late-onset GM2 gangliosidoses. [PDF]
Mol Genet MetabKissell J +10 more
europepmc +2 more sources
Combined replacement effects of human modified β-hexosaminidase B and GM2 activator protein on GM2 gangliosidoses fibroblasts [PDF]
Biochemistry and Biophysics Reports, 2016 GM2 gangliosidoses are autosomal recessive lysosomal storage diseases (LSDs) caused by mutations in the HEXA, HEXB and GM2A genes, which encode the human lysosomal β-hexosaminidase (Hex) α- and β-subunits, and GM2 activator protein (GM2A), respectively ...
00184656 +25 more
core +3 more sources
Epidemiology of progressive intellectual and neurological deterioration in UK children. [PDF]
Dev Med Child NeurolThis study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Verity CM +3 more
europepmc +2 more sources
The GM2 gangliosidoses: Unlocking the mysteries of pathogenesis and treatment
Neuroscience Letters, 2021 C. Toro, Mosufa Zainab, C. Tifft
semanticscholar +3 more sources
From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1. [PDF]
J Inherit Metab DisABSTRACT GM1 gangliosidosis is a rare, progressively neurodegenerative lysosomal storage disorder characterized by profound central nervous system involvement and substantial clinical heterogeneity. The development of reliable biomarkers is essential for tracking disease progression, stratifying patients, and advancing clinical trial readiness. Primary
Casazza K +3 more
europepmc +2 more sources
Lysosphingolipid Quantitation in Plasma and Dried-Blood Spots Using Targeted High-Resolution Mass Spectrometry. [PDF]
J Clin Lab AnalSphingolipidoses is a group of rare inherited lysosomal diseases that require an early and accurate diagnosis for effective treatment and patient management. A high‐resolution mass spectrometry method coupled with liquid chromatography has beendeveloped to analyze lysosphingolipids in plasma and dried blood spots.
Ducatez F +17 more
europepmc +2 more sources