Results 1 to 10 of about 5,209 (137)

Plasma membrane remodeling in GM2 gangliosidoses drives synaptic dysfunction. [PDF]

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   +11 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   +4 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   +4 more sources

Burden of caregiving of individuals with GM1 and GM2 gangliosidoses in the United States: a qualitative study [PDF]

Orphanet Journal of Rare Diseases
Background GM1 and GM2 (Tay–Sachs and Sandhoff diseases) gangliosidoses are rare, autosomal recessive, potentially life-threatening, disabling disorders characterized by progressive neurodegeneration, with no disease-modifying treatment. This qualitative
Maria Belen Rodriguez, Ruth Pulikottil-Jacob, Karli Heuer, Nancy Gabriela Perez, Christine Waggoner, Diana Jussila, Chad Gwaltney, Robert Krupnick, Daisy Ng-Mak   +8 more
doaj   +3 more sources

The diagnostic journey for patients with late-onset GM2 Gangliosidoses [PDF]

Molecular Genetics and Metabolism Reports, 2023
Late-onset forms of GM2 gangliosidosis―mainly, Tay-Sachs disease and Sandhoff disease―are under-recognized in clinical practice. In these rare lysosomal storage disorders, deficiency of β-hexosaminidase A results in excessive accumulation of GM2 ...
Mariah C. Lopshire, Cynthia Tifft, John Burns, Rebecca Gould, Riliang Zheng, Isabela Batsu   +5 more
doaj   +3 more sources

Generation of mice with combined Hexa Gly269Ser KI or KO and Neu3 KO alleles to create new models of GM2 gangliosidoses [PDF]

Biology Open
The GM2 gangliosidoses are lysosomal storage disorders exhibiting a spectrum of neurological phenotypes ranging from childhood death to debilitating adult-onset neurological impairment. To date, no mouse model harbouring a specific human mutation causing
Emily N. Barker, Mehrafarin Ashiri, Jennifer T. Saville, Richard Hemming, Nikolas Furletti, Shreya H. Dhume, Shirley Yu, Elaine Anjos, Xiaoli Wu, Agnes Fresnoza, David C. Merz, Mike Jackson, Marc R. Del Bigio, Tabrez J. Siddiqui, Maria Fuller, Brian L. Mark, Barbara Triggs-Raine   +16 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   +4 more sources

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

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   +2 more sources

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

Neurology, 2023
Background and Objectives GM2 gangliosidoses (Tay-Sachs and Sandhoff diseases) are rare, autosomal recessive, neurodegenerative diseases with no available symptomatic or disease-modifying treatments.
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   +2 more sources

Identification of a novel HEXB Mutation in an Iranian Family with suspected patient to GM2‐gangliosidoses

Clinical Case Reports, 2020
Sandhoff disease is one of the GM2‐gangliosidoses which is caused by a mutation in the HEXB preventing the breakdown of GM2‐ganglioside. We report a novel HEXB variant in a family with a history of a dead girl with Sandhoff disease which was not found in
Fatemeh Mansouri‐Movahed, Fatemeh Akhoundi, Parvaneh Nikpour, Masoud Garshasbi, Modjtaba Emadi‐Baygi   +4 more
doaj   +2 more sources