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Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.
Oláhová M, Thompson K, Hardy SA, Barbosa IA, Besse A, Anagnostou ME, White K, Davey T, Simpson MA, Champion M, Enns G, Schelley S, Lightowlers RN, Chrzanowska-Lightowlers ZM, McFarland R, Deshpande C, Bonnen PE, Taylor RW. Oláhová M, et al. Among authors: lightowlers rn. J Inherit Metab Dis. 2017 Jan;40(1):121-130. doi: 10.1007/s10545-016-9977-2. Epub 2016 Sep 30. J Inherit Metab Dis. 2017. PMID: 27696117 Free PMC article.
The mRNA-binding protein COLBP is glutamate dehydrogenase.
Preiss T, Sang AE, Chrzanowska-Lightowlers ZM, Lightowlers RN. Preiss T, et al. Among authors: lightowlers rn. FEBS Lett. 1995 Jul 3;367(3):291-6. doi: 10.1016/0014-5793(95)00569-u. FEBS Lett. 1995. PMID: 7607326 Free article.
195 results