Zobrazeno 1 - 3
of 3
pro vyhledávání: '"María Begoña Cachón-González"'
Autor:
Eva Zaccariotto, María Begoña Cachón-González, Bing Wang, Sungtaek Lim, Bradford Hirth, Hyejung Park, Malika Fezoui, S.Pablo Sardi, Paul Mason, Robert H. Barker, Jr, Timothy M. Cox
Publikováno v:
Biomedicine & Pharmacotherapy, Vol 149, Iss , Pp 112808- (2022)
Krabbe disease is a rare, inherited neurodegenerative disease due to impaired lysosomal β-galactosylceramidase (GALC) activity and formation of neurotoxic β-galactosylsphingosine (‘psychosine’). We investigated substrate reduction therapy with
Externí odkaz:
https://doaj.org/article/77cf7efe886d460196850a21fcc8a250
Autor:
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
Publikováno v:
Cells, Vol 10, Iss 11, p 3122 (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) l
Externí odkaz:
https://doaj.org/article/f52039e69fcc4dfe90d6e42e02924715
Autor:
Emmanuelle Lecommandeur, Maria Begoña Cachón-González, Susannah Boddie, Ben D. McNally, Andrew W. Nicholls, Timothy M. Cox, Julian L. Griffin
Publikováno v:
Metabolites, Vol 11, Iss 1, p 18 (2020)
Sandhoff disease (SD) is a lysosomal disease caused by mutations in the gene coding for the β subunit of β-hexosaminidase, leading to deficiency in the enzymes β-hexosaminidase (HEX) A and B. SD is characterised by an accumulation of gangliosides
Externí odkaz:
https://doaj.org/article/2cfc0a9f51594020903d5a1919d93254