Impaired activity of CCA-adding enzyme TRNT1 impacts OXPHOS complexes and cellular respiration in SIFD patient-derived fibroblasts

Orphanet Journal of Rare Diseases

Volumn 11, Issue 1, 2016, Pages

  Liwak Muir, Urszula ^a   Mamady, Hapsatou ^a   Naas, Turaya ^a   Wylie, Quinlan ^a   McBride, Skye ^a   Lines, Matthew ^a,b   Michaud, Jean ^a   Baird, Stephen D ^a   Chakraborty, Pranesh K ^a,b   Holcik, Martin ^a,b  

^a CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^b UNIVERSITY OF OTTAWA   (Canada)

Author keywords

Mitochondria; OXPHOS; SIFD; Translation; TRNT1

Indexed keywords

RNA POLYMERASE; TRNT1 PROTEIN; UNCLASSIFIED DRUG; NUCLEOTIDYLTRANSFERASE; TRNT1 PROTEIN, HUMAN;

ARTICLE; CELL RESPIRATION; CELL STRUCTURE; CELLULAR DISTRIBUTION; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; ENZYME ACTIVITY; FIBROBLAST; GENE MUTATION; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; MITOCHONDRION; OXIDATIVE PHOSPHORYLATION; RECURRENT FEVER; SIDEROBLASTIC ANEMIA; CELL CULTURE; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE; GENETICS; METABOLISM; MITOCHONDRIAL MEMBRANE POTENTIAL; MUTATION; PHYSIOLOGY; TRANSMISSION ELECTRON MICROSCOPY; WESTERN BLOTTING;

ANEMIA, SIDEROBLASTIC; BLOTTING, WESTERN; CELL RESPIRATION; CELLS, CULTURED; FEMALE; FIBROBLASTS; FLUORESCENT ANTIBODY TECHNIQUE; HUMANS; MEMBRANE POTENTIAL, MITOCHONDRIAL; MICROSCOPY, ELECTRON, TRANSMISSION; MITOCHONDRIA; MUTATION; NUCLEOTIDYLTRANSFERASES; OXIDATIVE PHOSPHORYLATION;

EID: 84975816958     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-016-0466-3     Document Type: Article

References (10)

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