Plasma membrane remodeling in GM2 gangliosidoses drives synaptic dysfunction.
PLoS BiologyGlycosphingolipids (GSL) are important bioactive membrane components. GSLs containing sialic acids, known as gangliosides, are highly abundant in the brain and diseases of ganglioside metabolism cause severe early-onset neurodegeneration. The ganglioside
Alex S Nicholson +11 more
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Journal of Veterinary Internal Medicine, 2018 A 13‐month‐old female Toy Poodle was presented for progressive ataxia and intention tremors of head movement. The diagnosis of Sandhoff's disease (GM2 gangliosidosis) was confirmed by deficient β‐N‐acetylhexosaminidase A and B activity in circulating ...
D. Ito +7 more
doaj +1 more source
Urine oligosaccharide tests for the diagnosis of oligosaccharidoses
Reviews in Analytical Chemistry, 2017 This review discusses the development of capillary electrophoresis with laser-induced detection and mass spectrometry techniques for the analysis of urinary oligosaccharides to screen for human oligosaccharidoses and related disorders.
Casado Mecedes +4 more
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Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.
PLoS ONE, 2018 ObjectiveHypomyelinating disorders are a group of clinically and genetically heterogeneous diseases characterized by neurological deterioration with hypomyelination visible on brain MRI scans.
Haoran Ji +26 more
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Molecular Pathogenesis and Therapeutic Approach of GM2 Gangliosidosis
YAKUGAKU ZASSHI, 2013 Tay-Sachs and Sandhoff diseases (GM2 gangliosidoses) are autosomal recessive lysosomal storage diseases caused by gene mutations in HEXA and HEXB, each encoding human lysosomal β-hexosaminidase α-subunits and β-subunits, respectively. In Tay-Sachs disease, excessive accumulation of GM2 ganglioside (GM2), mainly in the central nervous system, is caused ...
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Gene Therapy Approaches for Neurological Lysosomal Storage Diseases [PDF]
, 2014 GM1 and GM2 gangliosidosis are lysosomal storage diseases caused by deficiency of enzymes required for ganglioside catabolism. Enzyme deficiencies cause neuronal accumulation of ganglioside resulting in progressive neurodegeneration and premature death ...
McCurdy, Victoria
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Properties of recombinant human cytosolic sialidase HsNEU2. The enzyme hydrolyzes monomerically dispersed GM1 ganglioside molecules [PDF]
, 2004 Recombinant human cytosolic sialidase (HsNEU2), expressed in Escherichia coli, was purified to homogeneity, and its substrate specificity was studied. HsNEU2 hydrolyzed 4-methylumbelliferyl alpha-NeuAc, alpha 2-->3 sialyllactose, glycoproteins (fetuin ...
BORSANI G +9 more
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Phenotypic characterisation of human iPSC neuronal models of GM2 gangliosidoses [PDF]
Gangliosides are crucial components on the outer leaflet of the plasma membrane of many cells, especially neurons. Their functions are broad and varied but their high abundance in neurons leaves these cells especially vulnerable to the effects of their ...
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A review of gene therapy in canine and feline models of lysosomal storage disorders [PDF]
, 2015 Bradbury, Allison M +5 more
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Combined replacement effects of human modified β-hexosaminidase B and GM2 activator protein on GM2 gangliosidoses fibroblasts [PDF]
, 2020 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 ...
Hirokawa, Takatsugu +6 more
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