Results 21 to 30 of about 2,912 (167)

Development and characterization of GM2 gangliosidoses mouse models

, 2023
GM2 gangliosidoses are a group of rare lysosomal storage disorders (LSDs) characterized by lysosomal accumulation of GM2 ganglioside in the nervous system, resulting in a range of neurodegenerative disorders. These disorders result from mutations in the genes encoding the 𝛼- or 𝛽-subunits of the enzyme 𝛽-hexosaminidase A (HexA), or more rarely the GM2 ...
Barker, Emily
openaire   +2 more sources

Animal models of GM2 gangliosidosis: utility and limitations

The Application of Clinical Genetics, 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
doaj   +1 more source

The GM2 Gangliosidoses

, 2007
In this group of conditions, GM2 ganglioside and related compounds accumulate in lysosomes due to enzymatic deficiencies in their degradation pathways. Their typical presentation is that of a pure neurodegenerative disorder characterized by developmental
Gustavo A. Charria-Ortiz, Charria-Ortiz, Gustavo A.   +1 more
openaire   +2 more sources

Intracerebroventricular administration of a modified hexosaminidase ameliorates late-stage neurodegeneration in a GM2 mouse model. [PDF]

PLoS ONE
The GM2 gangliosidoses, Tay-Sachs disease and Sandhoff disease, are devastating neurodegenerative disorders caused by β-hexosaminidase A (HexA) deficiency.
Manuel E Lopez, Daniel Wendt, Roger Lawrence, Kerui Gong, Hoonsan Ong, Bryan Yip, Joseph Chen, Linley Mangini, Britta Handyside, Alexander Giaramita, Aashish Lamichhane, Melanie Lo, Vishal Agrawal, Jeremy Van Vleet, Amanda Abolhesn, Jessica B Felix, Isaac Villalpando, Vikas Bhat, Rolando De Angelis, Yuanbin Ru, Ayesha Khan, Sylvia Fong, Terri Christianson, Sherry Bullens, Brett E Crawford, Stuart Bunting, Mika Aoyagi-Scharber   +26 more
doaj   +2 more sources

Neurofilament light chain (NfL) as a surrogate outcome measure for GM2 gangliosidoses. [PDF]

J Neurol
Background The GM2 gangliosidoses (GM2) are ultra-rare neurodegenerative disorders caused by deficient hexosaminidase A and/or B activity, leading to lysosomal GM2 ganglioside accumulation.
Martakis K, Abreu NJ, Baker JJ, Baker Ii PR, Billington I, Burrow TA, Factor M, Fields T, Fields C, Gannon JL, Grosso M, Kerthi J, Patterson MC, Shayota BJ, Strupp M, Strupp L, Bremova-Ert T.   +16 more
europepmc   +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
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   +2 more sources

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

, 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 (
Anhar Hassan, Jones, Simon, Claassen, Jens, Hahn, Andreas, Schneider, Susanne, Gascon-Bayari, Jordi, Susanne Schneider, Lau, Heather, Hassan, Anhar, Simon Jones, Jens Claassen, Andreas Hahn, Richard Kay, Perlman, Susan, Bremova-Ertl, Tatiana, Heather Lau, Sharma, Reena, Kay, Richard, Jordi Gascon-Bayari, Susan Perlman, Goldschagg, Nicolina, Anita Hennig, Martakis, Kyriakos, Reena Sharma, Tatiana Bremova-Ertl, Nicolina Goldschagg, Hennig, Anita, Kyriakos Martakis   +27 more
core   +2 more sources

Combined replacement effects of human modified β-hexosaminidase B and GM2 activator protein on GM2 gangliosidoses fibroblasts [PDF]

, 2016
GM2 gangliosidoses are autosomal recessive lysosomal storage diseases (LSDs) caused by mutations in the HEXA, HEXB and GM2A genes, which encode the human lysosomal β-hexosaminidase (Hex) α- and β-subunits, and GM2 activator protein (GM2A), respectively ...
Kitakaze, Keisuke, Tasaki, Chikako, Hirokawa, Takatsugu, Tsuji, Daisuke, Itoh, Kohji, Tajima, Youichi, Sakuraba, Hitoshi   +6 more
core   +3 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   +1 more source

CRISPR/nCas9-Based Genome Editing on GM2 Gangliosidoses Fibroblasts via Non-Viral Vectors

, 2022
The gangliosidoses GM2 are a group of pathologies mainly affecting the central nervous system due to the impaired GM2 ganglioside degradation inside the lysosome. Under physiological conditions, GM2 ganglioside is catabolized by the β-hexosaminidase
Reyes, Luis Humberto, Angela Johana Espejo-Mojica, Quezada, Valentina, Andrés Felipe Leal, Eliana Benincore-Flórez, Juan Carlos Cruz, Carlos Javier Alméciga-Díaz, Benincore-Flórez, Eliana, Cifuentes, Javier, Alméciga-Díaz, Carlos Javier, Javier Cifuentes, Luis Humberto Reyes, Espejo-Mojica, Angela Johana, Valentina Quezada, Cruz, Juan Carlos, Leal, Andrés Felipe   +15 more
core   +1 more source