Results 21 to 30 of about 1,188 (166)

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

Alkaline Phosphatase and Infantile GM1 Gangliosidosis: A Simple Biomarker for a Complex Disease? [PDF]

JIMD Rep
ABSTRACT GM1 gangliosidosis is a lysosomal storage disease (LSD) caused by β‐galactosidase deficiency, characterized by the accumulation of gangliosides in various tissues. Among different GM1 forms (infantile form, late‐infantile and juvenile form, and late‐onset form), the infantile form is the most severe: despite an early clinical onset with rapid ...
Fiori L, Turzi M, Tagi VM, Asnaghi L, Bonaventura E, Tonduti D, Spaccini L, Saielli LA, Montanari C, Cairello F, Mannarino S, Ferrario M, Del Longo A, Napolitano M, Righini A, Semeraro M, Venerando A, Miceli M, Verduci E, Zuccotti G.   +19 more
europepmc   +2 more sources

White Matter Pathology as a Barrier to Gangliosidosis Gene Therapy

Frontiers in Cellular Neuroscience, 2021
The gangliosidoses are a family of neurodegenerative lysosomal storage diseases that have recently seen promising advances in gene therapy. White matter deficits are well established components of gangliosidosis pathology that are now receiving more ...
Anne S. Maguire, Anne S. Maguire, Douglas R. Martin, Douglas R. Martin   +3 more
doaj   +1 more source

Epidemiology of progressive intellectual and neurological deterioration in UK children. [PDF]

Dev Med Child Neurol
This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Verity CM, Maunder PJ, Winstone AM, Pal S.   +3 more
europepmc   +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

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   +1 more source

Biochemistry and genetics of gangliosidoses [PDF]

Human Genetics, 1979
The gangliosidoses comprise an-ever increasing number of biochemically and phenotypically variant diseases. In most of them an autosomal recessive inherited deficiency of a lysosomal hydrolase results in the fatal accumulation of glucolipids (predominantly in the nervous tissue) and of oligosaccharides.
K, Sandhoff, H, Christomanou
openaire   +2 more sources

GM2-gangliosidoses

, 2020
Gustavo Maegawa
exaly   +2 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   +1 more source

Supplementary information: CRISPR/nCas9-based genome editing on GM2 gangliosidoses fibroblasts via non-viral vectors

, 2022
Supplementary information for the manuscript "CRISPR/nCas9-based genome editing on GM2 gangliosidoses fibroblasts via non-viral vectors" submitted to the International Journal of Molecular Sciences.
Leal, Andrés, Reyes, Luis Humberto, Quezada, Valentina, Alméciga-Díaz, Carlos Javier, Benincore-Flórez, Eliana, Cruz, Juan Carlos, Cifuentes, Javier, Espejo-Mojica, Angela   +7 more
core   +1 more source