Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease

Schober, FA; Tang, JX; Sergeant, K; Moedas, MF; Zierz, CM; Moore, D; Smith, C; Lewis, D; Guha, N; Hopton, S; Falkous, G; Lam, A; Pyle, A; Poulton, J; Gorman, GS; Taylor, RW; Freyer, C; Wredenberg, A

Wredenberg, A (通讯作者)，Karolinska Inst, Dept Med Biochem & Biophys, S-17165 Stockholm, Sweden.;Wredenberg, A (通讯作者)，Karolinska Univ Hosp, Ctr Inherited Metab Dis, S-17176 Stockholm, Sweden.

HUMAN MOLECULAR GENETICS, 2022; 31 (12): 2049

Abstract

The SLC25A26 gene encodes a mitochondrial inner membrane carrier that transports S-adenosylmethionine (SAM) into the mitochondrial matrix in exchange ......

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