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

BACKGROUND: SIFD (Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay) is a novel form of congenital sideroblastic anemia associated with B-cell immunodeficiency, periodic fevers, and developmental delay caused by mutations in the CCA-adding enzyme TRNT1, but...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Liwak-Muir, Urszula, Mamady, Hapsatou, Naas, Turaya, Wylie, Quinlan, McBride, Skye, Lines, Matthew, Michaud, Jean, Baird, Stephen D., Chakraborty, Pranesh K., Holcik, Martin
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2016
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4912790/
https://ncbi.nlm.nih.gov/pubmed/27317422
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0466-3
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