Results 31 to 40 of about 3,309 (181)
Molecular Genetics and Metabolism Reports, 2017 GM2-gangliosidosis, AB variant is an extremely rare autosomal recessive inherited disorder caused by mutations in the GM2A gene that encodes GM2 ganglioside activator protein (GM2AP).
Carla Martins +6 more
doaj +1 more source
Journal of Neuroinflammation, 2020 Background Tay-Sachs disease (TSD), a type of GM2-gangliosidosis, is a progressive neurodegenerative lysosomal storage disorder caused by mutations in the α subunit of the lysosomal β-hexosaminidase enzyme.
Seçil Akyıldız Demir +4 more
doaj +1 more source
A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient's skin. [PDF]
, 2013 Niemann Pick C (NPC) disease is a neurovisceral lysosomal storage disorder due to mutations in NPC1 or NPC2 genes, characterized by the accumulation of endocytosed unesterified cholesterol, gangliosides and other lipids within the lysosomes/late ...
Beltrami, Antonio Paolo +8 more
core +2 more sources
Journal of Lipid Research, 2019 The catabolism of ganglioside GM2 is dependent on three gene products. Mutations in any of these genes result in a different type of GM2 gangliosidosis (Tay-Sachs disease, Sandhoff disease, and the B1 and AB variants of GM2 gangliosidosis), with GM2 as ...
Susi Anheuser +2 more
doaj +1 more source
In cellulo examination of a beta-alpha hybrid construct of beta-hexosaminidase A subunits, reported to interact with the GM2 activator protein and hydrolyze GM2 ganglioside. [PDF]
PLoS ONE, 2013 The hydrolysis in lysosomes of GM2 ganglioside to GM3 ganglioside requires the correct synthesis, intracellular assembly and transport of three separate gene products; i.e., the alpha and beta subunits of heterodimeric beta-hexosaminidase A, E.C. # 3.2.1.
Incilay Sinici +7 more
doaj +1 more source
Development of a Next-Generation Sequencing (NGS) Gene Panel for Lysosomal Storage Diseases [PDF]
, 2017 Molecular genetic testing has not been used extensively as the primary diagnostic test for LSDs but this may change with the advent of rapid, reliable and affordable high-throughput DNA sequencing, the so called next generation sequencing.
Alves, Sandra +5 more
core +5 more sources
Free Neuropathology, 2023 On February 23rd 1936, a boy-child (“Kn”) died in an asylum near Munich after years of severe congenital dis-ease, which had profoundly impaired his development leading to inability to walk, talk and see as well as to severe epilepsy.
Burkhard S Kasper +4 more
doaj +3 more sources
DRG-targeted helper-dependent adenoviruses mediate selective gene delivery for therapeutic rescue of sensory neuronopathies in mice [PDF]
, 2009 Dorsal root ganglion (DRG) neuron dysfunction occurs in a variety of sensory neuronopathies for which there are currently no satisfactory treatments.
Baker, Andrew H. +5 more
core +3 more sources
Bis(monoacylglycero)phosphate: a secondary storage lipid in the gangliosidoses
Journal of Lipid Research, 2015 Bis(monoacylglycero)phosphate (BMP) is a negatively charged glycerophospholipid with an unusual sn-1;sn-1′ structural configuration. BMP is primarily enriched in endosomal/lysosomal membranes.
Zeynep Akgoc +5 more
doaj +1 more source
Neuromuscular synaptic transmission in aged ganglioside-deficient mice [PDF]
, 2011 Gangliosides are sialylated glycosphingolipids that are present in high density on neuronal membranes, especially at synapses, where they are assumed to play functional or modulating roles.
Furukawa, K. +7 more
core +1 more source