Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability

Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability

Mutations in glucokinase (GCK) cause a spectrum of glycemic disorders. Heterozygous loss-of-function mutations cause mild fasting hyperglycemia irrespective of mutation severity due to compensation from the unaffected allele. Conversely, homozygous loss-of-function mutations cause permanent neonatal...

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Auteurs principaux: Anne Raimondo, Ali Chakera, Soren K. Thomsen, Kevin Colclough, Amy Barrett, Elisa De Franco, Alisson Chatelas, Hüseyin Demirbilek, Teoman Akçay, Hussein Alawneh, Sarah E. Flanagan, Martijn van de Bunt, Andrew T. Hattersley, Anna L. Gloyn, Sian Ellard, Mohammad A. Abduljabbar, Mahmoud Alzyoud, Syed Aman, Louise Bath, Parijat De, Neeta Deshpande, Erdem Durmaz, Frank Eickmeier, Nancy Samir Elbarbary, Marc Fillion, Sujatha Jagadeesh, Melanie Kershaw, Waqas Khan, Wojciech Młynarski, Kathryn Noyes, Catherine Peters, Nick Shaw, Irina Tiron, Doğa Türkkahraman, Lesley Turner, Khadiga Eltonbary, Bilgin Yüksel
Format: Artigo
Langue:anglais
Publié: 2014
Accès en ligne:https://doi.org/10.1093/hmg/ddu360
https://academic.oup.com/hmg/article-pdf/23/24/6432/13907126/ddu360.pdf
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https://doi.org/10.1093/hmg/ddu360
https://academic.oup.com/hmg/article-pdf/23/24/6432/13907126/ddu360.pdf

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