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Article

Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion.

Human mutation - 1 Apr 2018

Alaimo Joseph T, Besse Arnaud, Alston Charlotte L, Pang Ki, Appadurai Vivek, Samanta Monisha, Smpokou Patroula, McFarland Robert, Taylor Robert W, Bonnen Penelope E

Abstract excerpt

Iron-sulfur (Fe-S) clusters are essential cofactors for proteins that participate in fundamental cellular processes including metabolism, DNA replication and repair, transcriptional regulation, and the mitochondrial electron transport chain (ETC). ISCA2 plays a role in the biogenesis of Fe-S clusters and a recent report described subjects displaying infantile-onset leukodystrophy due to bi-allelic mutation of...

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Identifiers

PMID: 29297947
DOI: 10.1002/humu.23396
PMCID: PMC5839994

Genes

ISCA2

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Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion.PMID 29297947Read ↗

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