TMEM126B

Publications

Alston CL et al. Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype. Am J Hum Genet. 2016;99(1):217-27 PMID: 27374774.

Sánchez-Caballero L et al. Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency. Am J Hum Genet. 2016;99(1):208-16.PMID: 27374773.

Theunissen TEJ et al. Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect. Front Mol Neurosci. 2017;10:336. PMID: 29093663.

Heide H et al. Complexome profiling identifies TMEM126B as a component of the mitochondrial complex I assembly complex. Cell Metab. 2012;16(4):538-49. PMID: 22982022.