Article
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.
Human molecular genetics - 15 Dec 2017
Peng Yanyan, Shinde Deepali N, Valencia C Alexander, Mo Jun-Song, Rosenfeld Jill, Truitt Cho Megan, Chamberlin Adam, Li Zhuo, Liu Jie, Gui Baoheng, Brockhage Rachel, Basinger Alice, Alvarez-Leon Brenda, Heydemann Peter, Magoulas Pilar L, Lewis Andrea M, Scaglia Fernando, Gril Solange, Chong Shuk Ching, Bower Matthew, Monaghan Kristin G, Willaert Rebecca, Plona Maria-Renee, Dineen Rich, Milan Francisca, Hoganson George, Powis Zoe, Helbig Katherine L, Keller-Ramey Jennifer, Harris Belinda, Anderson Laura C, Green Torrian, Sukoff Rizzo Stacey J, Kaylor Julie, Chen Jiani, Guan Min-Xin, Sellars Elizabeth, Sparagana Steven P, Gibson James B, Reinholdt Laura G, Tang Sha, Huang Taosheng
Abstract excerpt
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...
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