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SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome.
EMBO Mol Med. 2016 Sep 1;8(9):1019-38. doi: 10.15252/emmm.201506159. Print 2016 Sep.
EMBO Mol Med. 2016.
PMID: 27390132
Free PMC article.
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.
Wan J, Steffen J, Yourshaw M, Mamsa H, Andersen E, Rudnik-Schöneborn S, Pope K, Howell KB, McLean CA, Kornberg AJ, Joseph J, Lockhart PJ, Zerres K, Ryan MM, Nelson SF, Koehler CM, Jen JC.
Wan J, et al.
Brain. 2016 Nov 1;139(11):2877-2890. doi: 10.1093/brain/aww212.
Brain. 2016.
PMID: 27543974
Free PMC article.
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