Results 1 to 10 of about 1,208 (103)

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   +10 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   +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   +5 more sources

Thymic alterations in GM2 gangliosidoses model mice. [PDF]

PLoS ONE, 2010
BACKGROUND: Sandhoff disease is a lysosomal storage disorder characterized by the absence of β-hexosaminidase and storage of GM2 ganglioside and related glycolipids.
Seiichi Kanzaki, Akira Yamaguchi, Kayoko Yamaguchi, Yoshitsugu Kojima, Kyoko Suzuki, Noriko Koumitsu, Yoji Nagashima, Kiyotaka Nagahama, Michiko Ehara, Yoshio Hirayasu, Akihide Ryo, Ichiro Aoki, Shoji Yamanaka   +12 more
doaj   +6 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

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   +2 more sources

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

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

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   +2 more sources

Functionality of a bicistronic construction containing HEXA and HEXB genes encoding β-hexosaminidase A for cell-mediated therapy of GM2 gangliosidoses [PDF]

Neural Regeneration Research, 2022
Tay-Sachs disease and Sandhoff disease are severe hereditary neurodegenerative disorders caused by a deficiency of β-hexosaminidase A (HexA) enzyme, which results in the accumulation of GM2 gangliosides in the nervous system cells.
Alisa A Shaimardanova, Daria S Chulpanova, Valeriya V Solovyeva, Aleksandr M Aimaletdinov, Albert A Rizvanov   +4 more
doaj   +2 more sources

Increased phosphorylation of HexM improves lysosomal uptake and potential for managing GM2 gangliosidoses [PDF]

BBA Advances, 2022
Tay-Sachs and Sandhoff diseases are genetic disorders resulting from mutations in HEXA or HEXB, which code for the α- and β-subunits of the heterodimer β-hexosaminidase A (HexA), respectively.
Graeme Benzie, Kristen Bouma, Taylor Battellino, Steven Cooper, Rick Hemming, Wafa Kammouni, Lin Liu, Cuong Do, Mazdak Khajehpour, Helene Perreault, Stuart Kornfeld, Barbara Triggs-Raine, Brian L. Mark   +12 more
doaj   +2 more sources