IN SILICO AND IN VIVO MODELS FOR QATARI SPECIFIC CLASSICAL HOMOCYSTINURIA AS BASIS FOR DEVELOPMENT OF NOVEL THERAPIES

Homocystinuria is a rare inborn error of methionine metabolism caused by cystathionine β-synthase (CBS) deficiency. The prevalence of homocystinuria in Qatar is 1:1,800 births, mainly due to a founder Qatari missense mutation, c.1006 C>T; p.R336C (p.Arg336Cys). We characterized the structure-func...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Ismail, Hesham M., Krishnamoorthy, Navaneethakrishnan, Al-Dewik, Nader, Zayed, Hatem, Mohamed, Nura A., Di Giacomo, Valeria, Gupta, Sapna, Häberle, Johannes, Thöny, Beat, Blom, Henk J., Kruger, Waren D., Ben-Omran, Tawfeg, Nasrallah, Gheyath K.
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6586426/
https://ncbi.nlm.nih.gov/pubmed/30408270
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23682
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