Glycoprotein Hyposialylation Gives Rise to a Nephrotic-Like Syndrome That Is Prevented by Sialic Acid Administration in GNE V572L Point-Mutant Mice

Mutations in the key enzyme of sialic acid biosynthesis, UDP-N-acetylglucosamine 2-epimerase/N-acetyl-mannosamine kinase, result in distal myopathy with rimmed vacuoles (DMRV)/hereditary inclusion body myopathy (HIBM) in humans. Sialic acid is an acidic monosaccharide that modifies non-reducing term...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Ito, Mitutoshi, Sugihara, Kazushi, Asaka, Tomoya, Toyama, Tadashi, Yoshihara, Toru, Furuichi, Kengo, Wada, Takashi, Asano, Masahide
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2012
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3258264/
https://ncbi.nlm.nih.gov/pubmed/22253810
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0029873
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados