Quantitative reliability assessment of brain MRI volumetric measurements in type II GM1 gangliosidosis patients [PDF]
Frontiers in NeuroimagingPrecilla D’Souza +2 more
exaly +2 more sources
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
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
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
doaj
Filipin recognizes both GM1 and cholesterol in GM1 gangliosidosis mouse brain
Journal of Lipid Research, 2011 Filipin is an antibiotic polyene widely used as a histochemical marker for cholesterol. We previously reported cholesterol/filipin-positive staining in brain of β-galactosidase (β-gal) knockout (−/−) mice (GM1 gangliosidosis).
Julian R. Arthur +2 more
doaj +1 more source
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia [PDF]
, 2016 BACKGROUND: Inborn errors of metabolism (IEMs) are individually rare; however, they are collectively common. More than 600 human diseases caused by inborn errors of metabolism are now recognized, and this number is constantly increasing as new concepts ...
Abdullah Alzaben +8 more
core +1 more source