Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features

Mutations that cause neurological phenotypes are highly informative with regard to mechanisms governing human brain function and disease. We report autosomal recessive mutations in the enzyme glutamate pyruvate transaminase 2 (GPT2) in large kindreds initially ascertained for intellectual and develo...

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Detalhes bibliográficos
Publicado no:Proc Natl Acad Sci U S A
Main Authors: Ouyang, Qing, Nakayama, Tojo, Baytas, Ozan, Davidson, Shawn M., Yang, Chendong, Schmidt, Michael, Lizarraga, Sofia B., Mishra, Sasmita, EI-Quessny, Malak, Niaz, Saima, Gul Butt, Mirrat, Imran Murtaza, Syed, Javed, Afzal, Chaudhry, Haroon Rashid, Vaughan, Dylan J., Hill, R. Sean, Partlow, Jennifer N., Yoo, Seung-Yun, Lam, Anh-Thu N., Nasir, Ramzi, Al-Saffar, Muna, Barkovich, A. James, Schwede, Matthew, Nagpal, Shailender, Rajab, Anna, DeBerardinis, Ralph J., Housman, David E., Mochida, Ganeshwaran H., Morrow, Eric M.
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2016
Assuntos:
PNAS Plus
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5035873/
https://ncbi.nlm.nih.gov/pubmed/27601654
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1609221113
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