Results 111 to 120 of about 1,188 (166)

An example for potentially underrated causes of recessive disease in the Greater Middle East: integrative long-read genome and transcriptome sequencing pinpoint a deep-intronic homozygous HEXB candidate founder variant in GM2-gangliosidosis. [PDF]

Hum Genomics
Bolte A, Velmans C, Netzer C, Thimm E, Tuncel AT, Bürger F, Hiersche M, Betz C, Bolz HJ.   +8 more
europepmc   +1 more source

Lysosomal free sialic acid storage disorder iPSC-derived neural cells display altered glycosphingolipid metabolism. [PDF]

Sci Rep
Sabir MS, Jovanovic VM, Ryu S, Sen C, Ormanoglu P, Pollard L, Steet R, Gahl WA, Huizing M, Tristan CA, Platt FM, Malicdan MCV.   +11 more
europepmc   +1 more source

Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disorders. [PDF]

J Neurol
Park J, Bremova-Ertl T, Brands M, Foltan T, Gautschi M, Gissen P, Hahn A, Jones S, Arash-Kaps L, Kolnikova M, Patterson M, Perlman S, Ramaswami U, Reichmannová S, Rohrbach M, Schneider SA, Shaikh A, Sivananthan S, Synofzik M, Walterfarng M, Wibawa P, Martakis K, Manto M.   +22 more
europepmc   +1 more source

Adult-onset Sandhoff disease presenting with a motor neuron disease phenotype: clinical and mechanistic insights from patient-derived models. [PDF]

Acta Neuropathol Commun
Tang Y, Shan D, Wang H, Ji X, Jiao Y, Li J, Zhan Z, Liu S, Sun X, Lin P, Xu J, Wang D, Sun X, Yan C, Zhao Y, Liu F.   +15 more
europepmc   +1 more source

GM2-Gangliosidoses

, 2015
Gustavo Maegawa
exaly   +4 more sources

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The gangliosidoses

Human Pathology, 1975
The gangliosidoses are hereditary diseases with a recessive mode of inheritance and are caused by a genetically induced enzymatic block, which results in the accumulation of gangliosides in various tissues of the body, mainly in the brain. Although Tay-Sachs disease, the most commonly occurring of the gangliosidoses, has been known for nearly 100 years,
Bruno W Volk, L Schneck, Larry Schneck
exaly   +4 more sources

Synopsis: Gangliosidoses

Neuropediatrics, 1984
Gangliosidoses are very rare neurological diseases based on specific enzyme defects. They constitute models for the disruption of specific metabolic pathways and cellular functions with the ultimate consequence of manifest clinical symptoms. The investigation of the various steps involved in the generation of a given syndrome can therefore lead to a ...
M E, Schwab, F, Vassella
exaly   +3 more sources

Gangliosidoses

, 2003
The gangliosidoses comprise a family of lysosomal storage diseases characterized by the accumulation of complex glycosphingolipids in the nervous system and other tissues, secondary to the deficient activity of lysosomal hydrolases or their associated activator proteins. GM1 and GM2 gangliosidosis are associated with deficiency of β-galactosidase and β-
Marc C. Patterson
core   +5 more sources

Morphology of the Gangliosidoses

Neuropediatrics, 1984
GM1 and GM2 gangliosidoses are progressive neurodegenerative diseases which accumulate intralysosomal gangliosides--and to a lesser extent oligosaccharides--chiefly in the central and peripheral nervous system owing to deficiencies of beta-galactosidase and hexosaminidases A or/and B, respectively.
H Goebel
exaly   +3 more sources