GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice

Glutamine-fructose-6-phosphate transaminase 1 (GFPT1) is the rate-limiting enzyme in the hexosamine biosynthetic pathway which yields precursors required for protein and lipid glycosylation. Mutations in GFPT1 and other genes downstream of this pathway cause congenital myasthenic syndrome (CMS) char...

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Detalles Bibliográficos
Autores principales: Issop, Yasmin, Hathazi, Denisa, Khan, Muzamil Majid, Rudolf, Rüdiger, Weis, Joachim, Spendiff, Sally, Slater, Clarke R, Roos, Andreas, Lochmüller, Hanns
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2018
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6121184/
https://www.ncbi.nlm.nih.gov/pubmed/29905857
http://dx.doi.org/10.1093/hmg/ddy225

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6121184/
https://www.ncbi.nlm.nih.gov/pubmed/29905857
http://dx.doi.org/10.1093/hmg/ddy225

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