Results 91 to 100 of about 4,924 (178)

GM2 gangliosidosis in Saudi Arabia: Multiple mutations and considerations for future carrier screening

, 2011
The GM2 gangliosidose, Tay-Sachs and Sandhoff diseases, are a class of lysosomal storage diseases in which relentless neuro-degeneration results in devastating neurological disability and premature death.
Mohammad Al- Owain, Colak, Dilek, Al-Owain, Mohammad, Al-Zahrani, Jawaher, Ozand, Pinar T., Milanlıoğlu, Aysel, Al-Sayed, Moeen, Alkuraya, Fowzan S., AbuDheim, Nada, Moeen Al- Sayed, Fowzan S. Alkuraya, Kaya, Namik, Jawaher Al- Zahrani, Aysel Milanlioglu, Nada AbuDheim, Dilek Colak, Pinar T. Ozand, Namik Kaya   +17 more
core   +1 more source

Plasma membrane remodeling in GM2 gangliosidoses drives synaptic dysfunction.

PLoS Biology
Glycosphingolipids (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, David A Priestman, Robin Antrobus, James C Williamson, Reuben Bush, Shannon J McKie, Henry G Barrow, Emily Smith, Kostantin Dobrenis, Nicholas A Bright, Frances M Platt, Janet E Deane   +11 more
doaj   +1 more source

Two‐Year Follow‐Up Magnetic Resonance Imaging and Spectroscopy Findings and Cerebrospinal Fluid Analysis of a Dog with Sandhoff's Disease

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, C. Ishikawa, N.D. Jeffery, K. Ono, M. Tsuboi, K. Uchida, O. Yamato, M. Kitagawa   +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, Ferrer-López Isaac, Ruiz-Sala Pedro, Pérez-Cerdá Celia, Artuch Rafael   +4 more
doaj   +1 more source

ePoster

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

Laboratory Diagnosis of Canine G_M2-Gangliosidosis using Blood and Cerebrospinal Fluid

, 2004
In the present study, laboratory techniques were used to diagnose canine GM2-gangliosidosis using blood and cerebrospinal fluid (CSF) that can be collected noninvasively from living individuals.
Hiroyuki Satoh, Yoshimitsu Maede, Masahiro Yamasaki, Naoaki Matsuki, Osamu Yamato, Kenichiro Ono   +5 more
core   +1 more source

Tay-Sachs disease: a case report

The Turkish Journal of Pediatrics, 1995
Tay-Sachs disease (GM2 gangliosidosis I) is an autosomal recessive lysosomal-storage disorder confined to the central nervous system, resulting from deficiency of hexosaminidase A.
A E Arisoy, S Ozden, G Ciliv, I Ozalp
doaj  

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 ...
openaire   +3 more sources

CSF N-glycan profile reveals sialylation deficiency in a patient with GM2 gangliosidosis presenting as childhood disintegrative disorder

, 2016
Protein N-glycosylation consists in the synthesis and processing of the oligosaccharide moiety (N-glycan) linked to a protein and it serves several functions for the proper central nervous system (CNS) development and function.
Fiumara A, Garozzo D, Bua RO, Sturiale L, Palmigiano A, Rizzo R, Barone R, Zappia M   +7 more
core   +1 more source

Magnetic resonance imaging and spectroscopy in late-onset GM2-gangliosidosis. [PDF]

Mol Genet Metab, 2021
Rowe OE, Rangaprakash D, Weerasekera A, Godbole N, Haxton E, James PF, Stephen CD, Barry RL, Eichler FS, Ratai EM.   +9 more
europepmc   +1 more source