N-Alpha-Acetylation of α-Synuclein Increases Its Helical Folding Propensity, GM1 Binding Specificity and Resistance to Aggregation [PDF]
, 2014 A switch in the conformational properties of α-synuclein (αS) is hypothesized to be a key step in the pathogenic mechanism of Parkinson’s disease (PD). Whereas the beta-sheet-rich state of αS has long been associated with its pathological aggregation in ...
Bartels, Tim +3 more
core +14 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
Molecular Therapy: Methods & Clinical Development, 2022 GM1-gangliosidosis is a progressive neurodegenerative glycosphingolipidosis resulting from a GLB1 gene mutation causing a deficiency of the lysosomal enzyme β-galactosidase, which leads to the abnormal accumulation of GM1 ganglioside in the central ...
Toshiki Tsunogai +8 more
doaj +1 more source
Gangliosidosis gml juvenil como causa de regresión en el neurodesarrollo: reporte de caso
Acta Neurológica Colombiana, 2023 La gangliosidosis GM1 es ocasionada por deficiencia en la actividad catalítica de la enzima lisosomal beta-galacto-sidasa, dando origen a la acumulación del esfingolípido conocido como gangliósido GM1.
Blair Ortiz +5 more
doaj +2 more sources
Quality Control Gone Wrong: Mitochondria, Lysosomal Storage Disorders and Neurodegeneration. [PDF]
, 2013 The eukaryotic cell possesses specialized pathways to turnover and degrade redundant proteins and organelles. Each pathway is unique and responsible for degradation of distinctive cytosolic material.
Duchen, MR, Osellame, LD
core +1 more source
Balkan Medical Journal, 2022 Background: GM1 gangliosidosis is an autosomal recessive lysosomal storage disease caused by biallelic mutations in the GLB1 gene. Neurodegeneration, hypotonia, visceromegaly, macular cherry-red spots, skeletal dysplasia, and coarse and dysmorphic face ...
Halil Tuna Akar +9 more
doaj +1 more source
Glycomimetic-based pharmacological chaperones for lysosomal storage disorders: lessons from Gaucher, GM1-gangliosidosis and Fabry diseases [PDF]
, 2016 Lysosomal storage disorders (LSDs) are often caused by mutations that destabilize native folding and impair the trafficking of enzymes, leading to premature endoplasmic reticulum (ER)-associated degradation, deficiencies of specific hydrolytic functions ...
García-Fernández, José Manuel +2 more
core +1 more source
GM1 gangliosidosis associated with neonatal-onset of diffuse ecchymoses and mongolian spots
Indian Journal of Dermatology, 2011 A 7-month old girl with GM1 gangliosidosis type 1 manifested with diffuse ecchymosis and Mongolian spots. The cutaneous lesions were present at birth before the appearance of the other features of the disease. We postulate that dermal pigmentation may be
Imad Dweikat +4 more
doaj +1 more source
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders [PDF]
, 2014 BACKGROUND: With over 50 different disorders and a combined incidence of up to 1/3000 births, lysosomal storage diseases (LSDs) constitute a major public health problem and place an enormous burden on affected individuals and their families.
Armstrong, J. +12 more
core +2 more sources
GM1 - gangliosidosis in a Nigerian infant: A case report
Nigerian Journal of Paediatrics, 2021 Gangliosidoses belong to the group of genetic lipid metabolism disorders, caused by defects of lysosome enzymes, inherited as an autosomal recessive trait. Gangliosidosis GM1 is caused by the deficiency of the acid beta galactosidase (GLB11) resulting in
Abdullahi M Sakina +3 more
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