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Article

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

Orphanet journal of rare diseases - 18 Jun 2016

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

Abstract excerpt

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 the precise molecular pathophysiology is not known. RESULTS: We show that the disease causing mutations in...

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Share to Anemia, Sideroblastic
Share to Cell Respiration

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fibroblasts

Share to Fluorescent Antibody Technique

Share to Membrane Potential, Mitochondrial

Share to Microscopy, Electron, Transmission

Share to Nucleotidyltransferases

Share to Oxidative Phosphorylation

Source

Open in PubMed Open full text

Identifiers

PMID: 27317422
DOI: 10.1186/s13023-016-0466-3
PMCID: PMC4912790

Genes

TRNT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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