Results 11 to 20 of about 3,090 (194)

Plasma neurofilament light, glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients [PDF]

Molecular Genetics and Metabolism Reports, 2022
GM2 and GM1 gangliosidoses are genetic, neurodegenerative lysosomal sphingolipid storage disorders. The earlier the age of onset, the more severe the clinical presentation and progression, with infantile, juvenile and late-onset presentations broadly ...
Richard W.D. Welford, Herve Farine, Michel Steiner, Marco Garzotti, Kostantin Dobrenis, Claudia Sievers, Daniel S. Strasser, Yasmina Amraoui, Peter M.A. Groenen, Roberto Giugliani, Eugen Mengel   +10 more
doaj   +3 more sources

L-Arginine Ameliorates Defective Autophagy in GM2 Gangliosidoses by mTOR Modulation [PDF]

Cells, 2021
Aims: Tay–Sachs and Sandhoff diseases (GM2 gangliosidosis) are autosomal recessive disorders of lysosomal function that cause progressive neurodegeneration in infants and young children. Impaired hydrolysis catalysed by β-hexosaminidase A (HexA) leads to
Beatriz Castejón-Vega, Alejandro Rubio, Antonio J. Pérez-Pulido, José L. Quiles, Jon D. Lane, Beatriz Fernández-Domínguez, María Begoña Cachón-González, Carmen Martín-Ruiz, Alberto Sanz, Timothy M. Cox, Elísabet Alcocer-Gómez, Mario D. Cordero   +11 more
doaj   +11 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 ...
Iram Abidi, Alexander N. Kocev, Jonathan L. Babulic, Chantelle J. Capicciotti, Jagdeep Walia, Inka Brockhausen   +5 more
doaj   +2 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

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

International Journal of Molecular Sciences, 2023
Natalie M Deschenes, Melissa Mitchell, Steven J Gray   +2 more
exaly   +2 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

Characterization of Brain Lysosomal Activities in GBA-Related and Sporadic Parkinson’s Disease and Dementia with Lewy Bodies [PDF]

, 2018
Mutations in the GBA gene, encoding the lysosomal hydrolase glucocerebrosidase (GCase), are the most common known genetic risk factor for Parkinson’s disease (PD) and dementia with Lewy bodies (DLB).
Beccari, T. (Tommaso), Bonifati, V. (Vincenzo), Breedveld, G.J. (Guido), Calabresi, P. (Paolo), Chiasserini, D. (Davide), Duran-Pacheco, G. (Gonzalo), Eusebi, P. (Paolo), Ingrassia, A. (Angela), Kremer, T. (Thomas), Moors, T.E. (Tim E.), Paciotti, S. (Silvia), Parnetti, L., Quadri, M. (Marialuisa), Tasegian, A. (Anna), van de Berg, W.D.J. (Wilma D. J.)   +14 more
core   +14 more sources