Mice Doubly-Deficient in Lysosomal Hexosaminidase A and Neuraminidase 4 Show Epileptic Crises and Rapid Neuronal Loss

Tay-Sachs disease is a severe lysosomal disorder caused by mutations in the HexA gene coding for the α-subunit of lysosomal β-hexosaminidase A, which converts G(M2) to G(M3) ganglioside. Hexa(−/−) mice, depleted of β-hexosaminidase A, remain asymptomatic to 1 year of age, because they catabolise G(M...

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Detalles Bibliográficos
Autores principales: Seyrantepe, Volkan, Lema, Pablo, Caqueret, Aurore, Dridi, Larbi, Bel Hadj, Samar, Carpentier, Stephane, Boucher, Francine, Levade, Thierry, Carmant, Lionel, Gravel, Roy A., Hamel, Edith, Vachon, Pascal, Di Cristo, Graziella, Michaud, Jacques L., Morales, Carlos R., Pshezhetsky, Alexey V.
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2940724/
https://www.ncbi.nlm.nih.gov/pubmed/20862357
http://dx.doi.org/10.1371/journal.pgen.1001118

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