Results 11 to 20 of about 5,278 (187)

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

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   +8 more sources

Plasma Membrane Remodelling in GM2 Gangliosidoses Drives Synaptic Dysfunction

bioRxiv
Glycosphingolipids (GSL) are important bioactive components of cellular membranes. Complex GSLs, containing sialic acid residues are known as gangliosides and are highly abundant in the brain.
Nicholson AS, Priestman DA, Antrobus R, Williamson JC, Bush R, Barrow HG, Smith E, Dobrenis K, Bright NA, Platt FM, Deane JE.   +10 more
europepmc   +3 more sources

Juvenile GM2 Gangliosidoses

Pediatric Neurology Briefs, 2006
Clinical features and genetic correlations of 21 new case histories and 134 published case reports of juvenile or subacute GM2 gangliosidosis were analyzed to delineate the natural history of the disorder, in a study at the Hospital for Sick Children ...
J Gordon Millichap
doaj   +3 more sources

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

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

GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies [PDF]

International Journal of Molecular Sciences, 2020
GM2 gangliosidoses are a group of pathologies characterized by GM2 ganglioside accumulation into the lysosome due to mutations on the genes encoding for the β-hexosaminidases subunits or the GM2 activator protein.
A. Leal, Eliana Benincore-Flórez, Daniela Solano-Galarza, Rafael Guillermo Garzón Jaramillo, O. Y. Echeverri-Peña, Diego A. Súarez, C. Alméciga-Díaz, A. Espejo-Mojica   +7 more
semanticscholar   +4 more sources

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

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

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

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

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