Article

Recessive PPTC7 deficiency triggers excessive mitophagy to cause a severe inborn error of metabolism with hypomyelinating leukodystrophy

2026-02-17

Abstract excerpt

<title>Abstract</title> The mitochondrial phosphatase PPTC7 has emerged as a potent regulator of metabolism and mitophagy as its global knockout leads to perinatal lethality in mice. However, no known Mendelian diseases have been linked to <italic>PPTC7</italic> deficiency, rendering its role in human pathophysiology unclear. Here, we identify two independent homozygous variants in <italic>PPTC7</italic>...

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Literature Corpus work: 73af4aae-cda8-5b4d-9371-baa24b87901a
DOI: 10.21203/rs.3.rs-8815446/v1

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Recessive PPTC7 deficiency triggers excessive mitophagy to cause a severe inborn error of metabolism with hypomyelinating leukodystrophyDOI 10.21203/rs.3.rs-8815446/v1Read

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