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

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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Main Authors: Ouyang, Qing (Author), Nakayama, Tojo (Author), Baytas, Ozan (Author), Yang, Chendong (Author), Schmidt, Michael (Author), Lizarraga, Sofia B. (Author), Mishra, Sasmita (Author), EI-Quessny, Malak (Author), Niaz, Saima (Author), Gul Butt, Mirrat (Author), Imran Murtaza, Syed (Author), Javed, Afzal (Author), Chaudhry, Haroon Rashid (Author), Vaughan, Dylan J. (Author), Hill, R. Sean (Author), Partlow, Jennifer N. (Author), Yoo, Seung-Yun (Author), Lam, Anh-Thu N. (Author), Nasir, Ramzi (Author), Al-Saffar, Muna (Author), Barkovich, A. James (Author), Schwede, Matthew (Author), Nagpal, Shailender (Author), Rajab, Anna (Author), DeBerardinis, Ralph J. (Author), Mochida, Ganeshwaran H. (Author), Morrow, Eric M. (Author), Davidson, Shawn M (Contributor), Housman, David E (Contributor)
Other Authors: Massachusetts Institute of Technology. Department of Biology (Contributor)
Format: Article
Language:English
Published: National Academy of Sciences (U.S.), 2017-05-10T19:53:18Z.
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