Article

Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome

2022-11-01

Abstract excerpt

<title>Abstract</title> <p> Smith-Magenis syndrome (SMS) is a neurodevelopmental disorder characterized by cognitive and behavioral symptoms, obesity, and sleep disturbance. There is no therapy to alleviate its symptoms or delay disease onset. SMS occurs due to haploinsufficiency of the retinoic acid-induced-1 ( <italic>RAI1</italic> ) gene caused by either chromosomal deletion (SMS-del) or <italic>RAI1</ital...

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Literature Corpus work: e0fb3c04-da5f-5ae9-83ed-86386e04f7b4
DOI: 10.21203/rs.3.rs-1489912/v2

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