Results 11 to 20 of about 3,309 (181)

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

Clin Case Rep
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.
Nishi E, Yanagi K, Shima M, Yamazaki N, Kawato K, Narita A, Sakai N, Okamoto N, Yanagihara K, Kaname T.   +9 more
europepmc   +3 more sources

Novel bicistronic lentiviral vectors correct beta-Hexosaminidase deficiency in neural and hematopoietic stem cells and progeny: implications for in vivo and ex vivo gene therapy of GM2 gangliosidosis [PDF]

Neurobiology of Disease, 2020
The favorable outcome of in vivo and ex vivo gene therapy approaches in several Lysosomal Storage Diseases suggests that these treatment strategies might equally benefit GM2 gangliosidosis.
A. Gritti, D. Sala, F. Ornaghi, F. Tedeschi, M. Aureli, M. Bazzucchi, M. CIOFETTI, M. Valsecchi, M.C. Maffia, S. Martino   +9 more
core   +3 more sources

Animal models of GM2 gangliosidosis: utility and limitations. [PDF]

Appl Clin Genet, 2016
Cheryl A Lawson,1,2 Douglas R Martin2,3 1Department of Pathobiology, 2Scott-Ritchey Research Center, 3Department of Anatomy, Physiology and Pharmacology, Auburn University College of Veterinary Medicine, Auburn, AL, USA Abstract: GM2 gangliosidosis, a ...
Lawson CA, Martin DR.
europepmc   +2 more sources

Characterization of Human Recombinant β1,4-GalNAc-Transferase B4GALNT1 and Inhibition by Selected Compounds. [PDF]

Molecules
Gangliosides are essential for membrane functions, cell recognition, and maintenance of the nervous system. GM2 gangliosidosis is a group of rare genetic lysosomal storage diseases that includes Tay-Sachs disease (TSD), Sandhoff disease (SD), and AB ...
Abidi I, Kocev AN, Babulic JL, Capicciotti CJ, Walia J, Brockhausen I.   +5 more
europepmc   +2 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

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

Mol Genet Metab Rep
GM2 activator deficiency (AB variant of GM2 gangliosidosis) is an ultra-rare autosomal recessive lysosomal storage disorder caused by pathogenic GM2A mutations.
Yoldaş Çelik M, Köşeci B, Burgaç E, Yararbaş K.   +3 more
europepmc   +2 more sources

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

Ann Clin Transl Neurol
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
Godbole NP, Haxton E, Rowe OE, Locascio JJ, Schmahmann JD, Eichler FS, Ratai EM, Stephen CD.   +7 more
europepmc   +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

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, Helman, Guy, Leventer, Richard J., McNeill, Nathan H., on behalf of the GLIA Consortium, Parikh, Sumit, Patterson, Marc C., Pizzino, Amy, Rizzo, William B., Schmidt, Johanna L., Simons, Cas, Taft, Ryan J., van der Knaap, Marjo S., van Hove, Johan, Vanderver, Adeline   +14 more
core   +18 more sources

Chitotriosidase as a biomarker for gangliosidoses

Molecular Genetics and Metabolism Reports, 2021
Elevated serum chitotriosidase (CHITO) is an indication of macrophage activation, and its capacity have been explored as a marker of inflammation in a number of disease states.
Sarah Kim, Chester B. Whitley, Jeanine R. Jarnes   +2 more
doaj   +1 more source