Results 11 to 20 of about 1,188 (166)

Evaluation of the Landscape of Pharmacodynamic Biomarkers in GM1 and GM2 Gangliosidosis [PDF]

Clinical and Translational Science
GM1 and GM2 gangliosidosis are inherited, progressive, neurodegenerative lysosomal disorders of variable onset and disease progression. GM1 gangliosidosis is a result of biallelic pathogenic variants in the GLB1 gene, which confer absent or reduced β ...
Sydney Stern, Karryn Crisamore, Ruo‐Jing Li, Michael Pacanowski, Robert Schuck   +4 more
doaj   +3 more sources

Critical role of iron in the pathogenesis of the murine gangliosidoses

Neurobiology of Disease, 2009
Neurodegeneration is a prominent feature of the gangliosidoses, a group of lysosomal storage diseases. Here we show altered iron homeostasis in mouse models of both GM1 and GM2 gangliosidoses, which are characterized by progressive depletion of iron in ...
Mylvaganam Jeyakumar, Ian Williams, David A. Smith, Timothy M. Cox, Frances M. Platt   +4 more
doaj   +2 more sources

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

A master protocol to investigate a novel therapy acetyl-l-leucine for three ultra-rare neurodegenerative diseases: Niemann-Pick type C, the GM2 gangliosidoses, and ataxia telangiectasia [PDF]

Trials, 2021
Background The lack of approved treatments for the majority of rare diseases is reflective of the unique challenges of orphan drug development. Novel methodologies, including new functionally relevant endpoints, are needed to render the development ...
T. Fields, M. Patterson, T. Bremova-Ertl, G. Belcher, I. Billington, G. C. Churchill, W. Davis, W. Evans, S. Flint, A. Galione, U. Granzer, J. Greenfield, R. Karl, R. Kay, D. Lewi, T. Mathieson, T. Meyer, D. Pangonis, F. M. Platt, L. Tsang, C. Verburg, M. Factor, M. Strupp   +22 more
doaj   +3 more sources

Natural history study of glycan accumulation in large animal models of GM2 gangliosidoses.

PLoS ONE, 2020
β-hexosaminidase is an enzyme responsible for the degradation of gangliosides, glycans, and other glycoconjugates containing β-linked hexosamines that enter the lysosome. GM2 gangliosidoses, such as Tay-Sachs and Sandhoff, are lysosomal storage disorders
Catlyn Cavender, Linley Mangini, Jeremy L Van Vleet, Carley Corado, Emma McCullagh, Heather L Gray-Edwards, Douglas R Martin, Brett E Crawford, Roger Lawrence   +8 more
doaj   +2 more sources

A natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE) [PDF]

Orphanet Journal of Rare Diseases
Background The GM1 and GM2 gangliosidoses and type 2 Gaucher disease (GD2) are inherited lysosomal storage disorders with most cases having symptom onset in infancy and reduced life expectancy.
Bénédicte Héron, Spyros Batzios, Eugen Mengel, Roberto Giugliani, Marc Patterson, Matthias Gautschi, Peter Cornelisse, Luba Trokan, Barbara Schwierin, Marianne Rohrbach   +9 more
doaj   +2 more sources

Evidence of Lysosomal β-Hexosaminidase Enzymatic Activity Associated with Extracellular Vesicles: Potential Applications for the Correction of Sandhoff Disease [PDF]

Journal of Functional Biomaterials
Extracellular vesicles (EVs) can be isolated from biological fluids and cell culture medium. Their nanometric dimension, relative stability, and biocompatibility have raised considerable interest for their therapeutic use as delivery vehicles of ...
Eleonora Calzoni, Giada Cerrotti, Krizia Sagini, Federica Delo, Sandra Buratta, Roberto Maria Pellegrino, Husam B. R. Alabed, Federica Fratini, Carla Emiliani, Lorena Urbanelli   +9 more
doaj   +2 more sources

Late-Onset Tay-Sachs Disease With SMALED-Like Muscle MRI Pattern Despite a Distinct Clinical Phenotype. [PDF]

J Peripher Nerv Syst
ABSTRACT Background Late‐onset Tay–Sachs disease (LOTS) is a rare lysosomal disorder that contrasts with the classical infantile form by presenting with milder and heterogeneous neurological manifestations, including lower motor neuron phenotypes.
Frezatti RSS, Gonçalves TAP, de Albuquerque Bueno MG, Dos Santos ACJ, Wilson LA, Dominik N, Hanna MG, Morrow J, Rossor AM, Reilly MM, Tomaselli PJ, Marques W.   +11 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

Efficacy and Safety of N-Acetyl-l-Leucine in Children and Adults With GM2 Gangliosidoses. [PDF]

Neurology, 2023
BACKGROUND AND OBJECTIVE GM2 gangliosidoses (Tay-Sachs and Sandhoff diseases) are rare, autosomal-recessive, neurodegenerative diseases with no available symptomatic or disease modifying treatments. This clinical trial investigated N-acetyl-L-leucine (
Martakis K, Claassen J, Gascon-Bayari J, Goldschagg N, Hahn A, Hassan A, Hennig A, Jones S, Kay R, Lau H, Perlman S, Sharma R, Schneider S, Bremova-Ertl T.   +13 more
europepmc   +3 more sources