Ontology highlight
ABSTRACT:
SUBMITTER: Peng Y
PROVIDER: S-EPMC5886230 | biostudies-literature | 2017 Dec
REPOSITORIES: biostudies-literature
Peng Yanyan Y Shinde Deepali N DN Valencia C Alexander CA Mo Jun-Song JS Rosenfeld Jill J Truitt Cho Megan M Chamberlin Adam A Li Zhuo Z Liu Jie J Gui Baoheng B Brockhage Rachel R Basinger Alice A Alvarez-Leon Brenda B Heydemann Peter P Magoulas Pilar L PL Lewis Andrea M AM Scaglia Fernando F Gril Solange S Chong Shuk Ching SC Bower Matthew M Monaghan Kristin G KG Willaert Rebecca R Plona Maria-Renee MR Dineen Rich R Milan Francisca F Hoganson George G Powis Zoe Z Helbig Katherine L KL Keller-Ramey Jennifer J Harris Belinda B Anderson Laura C LC Green Torrian T Sukoff Rizzo Stacey J SJ Kaylor Julie J Chen Jiani J Guan Min-Xin MX Sellars Elizabeth E Sparagana Steven P SP Gibson James B JB Reinholdt Laura G LG Tang Sha S Huang Taosheng T
Human molecular genetics 20171201 24
Iron-sulfur (Fe-S) clusters are ubiquitous cofactors essential to various cellular processes, including mitochondrial respiration, DNA repair, and iron homeostasis. A steadily increasing number of disorders are being associated with disrupted biogenesis of Fe-S clusters. Here, we conducted whole-exome sequencing of patients with optic atrophy and other neurological signs of mitochondriopathy and identified 17 individuals from 13 unrelated families with recessive mutations in FDXR, encoding the m ...[more]