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Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood.
Lewis-Smith D, Kamer KJ, Griffin H, Childs AM, Pysden K, Titov D, Duff J, Pyle A, Taylor RW, Yu-Wai-Man P, Ramesh V, Horvath R, Mootha VK, Chinnery PF. Lewis-Smith D, et al. Among authors: kamer kj. Neurol Genet. 2016 Mar 3;2(2):e59. doi: 10.1212/NXG.0000000000000059. eCollection 2016 Apr. Neurol Genet. 2016. PMID: 27123478 Free PMC article.
Reconstitution of the mitochondrial calcium uniporter in yeast.
Kovács-Bogdán E, Sancak Y, Kamer KJ, Plovanich M, Jambhekar A, Huber RJ, Myre MA, Blower MD, Mootha VK. Kovács-Bogdán E, et al. Among authors: kamer kj. Proc Natl Acad Sci U S A. 2014 Jun 17;111(24):8985-90. doi: 10.1073/pnas.1400514111. Epub 2014 Jun 2. Proc Natl Acad Sci U S A. 2014. PMID: 24889638 Free PMC article.
The uniporter: from newly identified parts to function.
Kamer KJ, Sancak Y, Mootha VK. Kamer KJ, et al. Biochem Biophys Res Commun. 2014 Jul 11;449(4):370-2. doi: 10.1016/j.bbrc.2014.04.143. Epub 2014 May 9. Biochem Biophys Res Commun. 2014. PMID: 24814702 No abstract available.
EMRE is an essential component of the mitochondrial calcium uniporter complex.
Sancak Y, Markhard AL, Kitami T, Kovács-Bogdán E, Kamer KJ, Udeshi ND, Carr SA, Chaudhuri D, Clapham DE, Li AA, Calvo SE, Goldberger O, Mootha VK. Sancak Y, et al. Among authors: kamer kj. Science. 2013 Dec 13;342(6164):1379-82. doi: 10.1126/science.1242993. Epub 2013 Nov 14. Science. 2013. PMID: 24231807 Free PMC article.
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