Results 11 to 20 of about 3,309 (191)

Genetics and Therapies for GM2 Gangliosidosis [PDF]

Current Gene Therapy, 2018
Tay-Sachs disease, caused by impaired β-N-acetylhexosaminidase activity, was the first GM2 gangliosidosis to be studied and one of the most severe and earliest lysosomal diseases to be described. The condition, associated with the pathological build-up of GM2 ganglioside, has acquired almost iconic status and serves as a paradigm in the study of ...
Maria Begoña Cachón-González, Timothy M Cox   +1 more
exaly   +5 more sources

Biochemical Correction of GM2 Ganglioside Accumulation in AB-Variant GM2 Gangliosidosis [PDF]

International Journal of Molecular Sciences, 2023
GM2 gangliosidosis is a group of genetic disorders that result in the accumulation of GM2 ganglioside (GM2) in brain cells, leading to progressive central nervous system (CNS) atrophy and premature death in patients. AB-variant GM2 gangliosidosis (ABGM2) arises from loss-of-function mutations in the GM2 activator protein (GM2AP), which is essential for
Natalie M Deschenes, Melissa Mitchell, Steven J Gray   +2 more
exaly   +4 more sources

GM1 and GM2-Gangliosidosis: Clinical Features, Neuroimaging Findings and Electroencephalography. [PDF]

Iran J Child Neurol
ObjectivesGangliosidosis is one of the hereditary metabolic diseases caused by the accumulation of Gangliosid in the central nervous system, leading to severe and progressive neurological deficits.
Karimzadeh P, Ebrahimi M, Etemad K, Ahmad Abadi F, Hosseini Nezhad Z.   +4 more
europepmc   +3 more sources

Clinical and imaging predictors of late‐onset GM2 gangliosidosis: A scoping review [PDF]

Annals of Clinical and Translational Neurology
Objective Late‐onset GM2 gangliosidosis (LOGG) subtypes late‐onset Tay‐Sachs (LOTS) and Sandhoff disease (LOSD) are ultra‐rare neurodegenerative lysosomal storage disorders presenting with weakness, ataxia, and neuropsychiatric symptoms. Previous studies
Neha P. Godbole, Elizabeth Haxton, Olivia E. Rowe, Joseph J. Locascio, Jeremy D. Schmahmann, Florian S. Eichler, Eva‐Maria Ratai, Christopher D. Stephen   +7 more
doaj   +2 more sources

Mutation in GM2A Leads to a Progressive Chorea-Dementia Syndrome [PDF]

Tremor and Other Hyperkinetic Movements, 2015
Background: The etiology of many cases of childhood-onset chorea remains undetermined, although advances in genomics are revealing both new disease-associated genes and variant phenotypes associated with known genes.
Mustafa A. Salih, Mohammed Z. Seidahmed, Heba Y. El Khashab, Muddathir H. Hamad, Thomas M. Bosley, Sabrina Burn, Angela Myers, Megan L. Landsverk, Patricia L. Crotwell, Kaya Bilguvar, Shrikant Mane, Michael C. Kruer   +11 more
doaj   +6 more sources

Biochemical characterization of the GM2 gangliosidosis B1 variant [PDF]

Brazilian Journal of Medical and Biological Research, 2004
The deficiency of the A isoenzyme of ß-hexosaminidase (Hex) produced by different mutations of the gene that codes for the alpha subunit (Tay-Sachs disease) has two variants with enzymological differences: the B variant consists of the absence of Hex A ...
J.C. Tutor
doaj   +5 more sources

GM2 activator deficiency: An ultra-rare disorder with a new case and review of 22 published cases [PDF]

Molecular Genetics and Metabolism Reports
GM2 activator deficiency (AB variant of GM2 gangliosidosis) is an ultra-rare autosomal recessive lysosomal storage disorder caused by pathogenic GM2A mutations.
Merve Yoldaş Çelik, Burcu Köşeci, Ezgi Burgaç, Kanay Yararbaş   +3 more
doaj   +2 more sources

First Reported Case of CLN5 Disease in Japan: Identification of a Novel Homozygous Pathogenic Variant Through Whole Genome Sequencing

Clinical Case Reports
Neuronal ceroid lipofuscinoses (NCL) belong to a group of inherited neurodegenerative diseases characterized by psychomotor regression, seizures, and visual impairment, resulting from intracellular accumulation of lipofuscin.
Eriko Nishi, Kumiko Yanagi, Morimasa Shima, Naoko Yamazaki, Kazumi Kawato, Aya Narita, Norio Sakai, Nobuhiko Okamoto, Keiko Yanagihara, Tadashi Kaname   +9 more
doaj   +2 more sources

Efficacy of Adeno-Associated Virus Serotype 9-Mediated Gene Therapy for AB-Variant GM2 Gangliosidosis [PDF]

International Journal of Molecular Sciences, 2023
Natalie M Deschenes, Karlaina J L Osmon, Patrick Thompson   +2 more
exaly   +2 more sources

Therapeutic Effects of Nizubaglustat in a Mouse Model of GM2 Gangliosidosis. [PDF]

J Inherit Metab Dis
ABSTRACT Nizubaglustat is a novel selective inhibitor of glucosylceramide synthase (GCS) and the non‐lysosomal glucocerebrosidase (NLGase, GbA2) with brain penetrant properties. It is currently in clinical development as an oral treatment for rare lysosomal storage diseases with neurological involvement. One such disease group called GM2 gangliosidosis,
Landskroner K, Singh K, Mitchell M, Walia JS.   +3 more
europepmc   +2 more sources