Results 21 to 30 of about 25,056,579 (316)
JIMD Reports, 2022 Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by deficiency of arylsulfatase A (ARSA). Heterozygous carriers of disease‐causing variants and individuals harbouring pseudodeficiency alleles in the ARSA gene ...
Lucia Laugwitz +10 more
doaj +1 more source
Биопрепараты: Профилактика, диагностика, лечение, 2022 Maroteaux—Lamy syndrome (mucopolysaccharidosis type VI) is an orphan genetic disease caused by mutations in the arylsulfatase B gene (ARSB), which encodes the lysosomal enzyme arylsulfatase B (ASB).
S. S. Timonova +7 more
doaj +1 more source
Arylsulfatase A, a genetic modifier of Parkinson's disease, is an α-synuclein chaperone.
Brain : a journal of neurology, 2019 Mutations in lysosomal genes increase the risk of neurodegenerative diseases, as is the case for Parkinson's disease. Here, we found that pathogenic and protective mutations in arylsulfatase A (ARSA), a gene responsible for metachromatic leukodystrophy ...
Jun Sung Lee +27 more
semanticscholar +1 more source
Metachromatic leukodystrophy: A case report
Bangabandhu Sheikh Mujib Medical University Journal, 2016 Metachromatic leuk:odystrophy (MLD) is a rare neurometabolic disease caused by the deficiency of the enzyme arylsulfatase A .Deficiency of this enzyme results in intralysosomal storage ofsphingolipid , cerebroside 3-sulfates (sulfatides), which are ...
Gopen Kumar Kundu +2 more
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Infantile Metachromatic Leukodystrophy: Case Report
Case Reports in Clinical Practice, 2023 Metachromatic Leukodystrophy (MLD) is commonly characterized by the accumulation of sulfatide in various organs, including the central nervous system, leading to neurological and mental symptoms.
Salsabeel Hamad +4 more
doaj +1 more source
The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease? [PDF]
, 2016 Neuronal ceroid lipofuscinoses (NCLs) are a group of incurable lysosomal storage disorders characterized by neurodegeneration and accumulation of lipopigments mainly within the neurons. We studied two littermate Chihuahua dogs presenting with progressive
Alroy, Joseph +10 more
core +2 more sources
WIPI1, BAG1 and PEX3 autophagy-related genes are relevant melanoma markers [PDF]
, 2018 ROS and oxidative stress may promote autophagy; on the other hand, autophagy may help reduce oxidative damages. According to the known interplay of ROS, autophagy, and melanoma onset, we hypothesized that autophagy-related genes (ARGs) may represent ...
D’Arcangelo, Daniela +5 more
core +1 more source
Arylsulfatase A (ASA) in Parkinson’s Disease: From Pathogenesis to Biomarker Potential
Brain Sciences, 2020 Parkinson’s disease (PD), the second most common neurodegenerative disorder after Alzheimer’s disease, is a clinically heterogeneous disorder, with obscure etiology and no disease-modifying therapy to date.
Efthalia Angelopoulou +3 more
doaj +1 more source
Annals of Clinical and Translational Neurology, 2023 Objective Metachromatic leukodystrophy is a lysosomal storage disease caused by deficient arylsulfatase A. It is characterized by progressive demyelination and thus mainly affects the white matter.
Murtadha Al‐Saady +13 more
doaj +1 more source
Synaptobrevin cleavage by the tetanus toxin light chain is linked to the inhibition of exocytosis in chromaffin cells [PDF]
, 1994 Exocytosis of secretory granules by adrenal chromaffin cells is blocked by the tetanus toxin light chain in a zinc specific manner. Here we show that cellular synaptobrevin is almost completely degraded by the tetanus toxin light chain within 15 min.
Ahnert-Hilger +46 more
core +1 more source