Results 41 to 50 of about 4,207 (192)
Analysis of the human diseasome reveals phenotype modules across common, genetic, and infectious diseases [PDF]
, 2014 Phenotypes are the observable characteristics of an organism arising from its response to the environment. Phenotypes associated with engineered and natural genetic variation are widely recorded using phenotype ontologies in model organisms, as are signs
Gkoutos, Georgios V +2 more
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A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies [PDF]
, 2014 Leukodystrophies (LD) and genetic leukoencephalopathies (gLE) are disorders that result in white matter abnormalities in the central nervous system (CNS).
Bernard, Geneviève +14 more
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GM1 gangliosidosis (type 1) in a cat [PDF]
Biochemical Journal, 1986 A kitten with clinical and morphological symptoms of a neurovisceral lysosomal-storage disease has been shown to have a marked deficiency of acidic beta-D-galactosidase in the brain, kidney and spleen. Chromatography on concanavalin A-Sepharose and inhibition studies with 2,5-dihydroxymethyl-3,4-dihydroxypyrrolidine, a selective inhibitor of the ...
C G, Barker +5 more
openaire +2 more sources
High-throughput imaging method for direct assessment of GM1 ganglioside levels in mammalian cells
Data in Brief, 2016 GM1-gangliosidosis is an inherited autosomal recessive disorder caused by mutations in the gene GLB1, which encodes acid β-galactosidase (β-gal). The lack of activity in this lysosomal enzyme leads to accumulation of GM1 gangliosides (GM1) in cells.
Walter Acosta +3 more
doaj +1 more source
NCLs and ER: A stressful relationship. [PDF]
, 2017 The Neuronal Ceroid Lipofuscinoses (NCLs, Batten disease) are a group of inherited neurodegenerative disorders with variable age of onset, characterized by the lysosomal accumulation of autofluorescent ceroid lipopigments.
Marotta, D, Mole, SE, Tinelli, E
core +1 more source
Autophagy in Lysosomal Storage Disorders [PDF]
, 2012 Lysosomes are ubiquitous intracellular organelles that have an acidic internal pH, and play crucial roles in cellular clearance. Numerous functions depend on normal lysosomes, including the turnover of cellular constituents, cholesterol homeostasis ...
Ballabio, Andrea +5 more
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Stem Cell ResearchGM1 gangliosidosis is an autosomal recessive lysosomal storage disorder caused by defects in the beta-galactosidase (GLB1) gene, which results in accumulation of GM1 gangliosides and related glycoconjugates in the lysosomes leading to lysosomal swelling,
Jingyun Guan +5 more
doaj +1 more source
Wishbone pattern of iron accumulation: A pathognomonic sign of type III GM1 gangliosidosis
Annals of Movement Disorders, 2019 Type III GM1 gangliosidosis is the adult or chronic variant of a lysosomal storage disorder, which occurs secondary to deficiency of β-galactosidase.
Shweta Prasad +3 more
doaj +1 more source
Peripheral blood findings in GM1 gangliosidosis [PDF]
Blood, 2016 ![Figure][1] This peripheral blood is from a 3-month-old male patient with a prior diagnosis of GM1 gangliosidosis type I, who was admitted with fever and leukocytosis. There is a family history of 2 siblings with GM1 gangliosidosis.
David T, Lynch, David R, Czuchlewski
openaire +2 more sources
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