Article

<i>SURF1</i> mutations causative of Leigh syndrome impair human neurogenesis

2019-02-20

Abstract excerpt

Mutations in the mitochondrial complex IV assembly factor SURF1 represent a major cause of Leigh syndrome (LS), a rare fatal neurological disorder. SURF1 -deficient animals have failed to recapitulate the neuronal pathology of human LS, hindering our understanding of the disease mechanisms. We generated induced pluripotent stem cells from LS patients carrying homozygous SURF1 mutations (SURF1 iPS) and performed...

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Literature Corpus work: b88d7adf-8e35-517c-81a2-a6f94927cee4
DOI: 10.1101/551390

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