Article

Biallelic mutations in SUPV3L1 cause an inherited neurodevelopmental disorder with variable leukodystrophy due to aberrant mitochondrial double stranded RNA processing

2024-05-10

Abstract excerpt

<title>Abstract</title> <p> We describe eighteen individuals from twelve families with an autosomal recessive neurodevelopmental disorder and variable leukodystrophy harbouring biallelic variants in <italic>SUPV3L1</italic> . <italic>SUPV3L1</italic> encodes the RNA helicase SUV3 (also known as SUPV3L1), with previous studies demonstrating a role for the protein as part of the mitochondrial degradosome. Pati...

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Literature Corpus work: 01c1967f-83b8-5ef6-b1bb-028a69400038
DOI: 10.21203/rs.3.rs-4356120/v1

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