Ganglioside GM3 is essential for the structural integrity and function of cochlear hair cells

GM3 synthase (ST3GAL5) is the first biosynthetic enzyme of a- and b-series gangliosides. Patients with GM3 synthase deficiency suffer severe neurological disability and deafness. Eight children (ages 4.1 ± 2.3 years) homozygous for ST3GAL5 c.694C>T had no detectable GM3 (a-series) or GD3 (b-serie...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Yoshikawa, Misato, Go, Shinji, Suzuki, Shun-ichi, Suzuki, Akemi, Katori, Yukio, Morlet, Thierry, Gottlieb, Steven M., Fujiwara, Michihiro, Iwasaki, Katsunori, Strauss, Kevin A., Inokuchi, Jin-ichi
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2015
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4425844/
https://ncbi.nlm.nih.gov/pubmed/25652401
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv041
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