Article

<i>PISD</i> is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes

2018-09-12

Abstract excerpt

Exome sequencing of two sisters with congenital cataracts, short stature and white matter changes identified compound heterozygous variants in the PISD gene, encoding the phosphatidylserine decarboxylase enzyme that converts phosphatidylserine (PS) to phosphatidylethanolamine (PE) in the inner mitochondrial membrane (IMM). Decreased conversion of PS to PE, and depletion of total cellular PE levels in patient fibr...

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Literature Corpus work: cfd3e426-d0d2-57db-b8cd-ff74143ca53b
DOI: 10.1101/413070

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