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Article

Autism-associated mutation in Hevin/Sparcl1 induces endoplasmic reticulum stress through structural instability.

Scientific reports - 13 Jul 2022

Taketomi Takumi, Yasuda Takunori, Morita Rikuri, Kim Jaehyun, Shigeta Yasuteru, Eroglu Cagla, Harada Ryuhei, Tsuruta Fuminori

Abstract excerpt

Hevin is a secreted extracellular matrix protein that is encoded by the SPARCL1 gene. Recent studies have shown that Hevin plays an important role in regulating synaptogenesis and synaptic plasticity. Mutations in the SPARCL1 gene increase the risk of autism spectrum disorder (ASD). However, the molecular basis of how mutations in SPARCL1 increase the risk of ASD is not been fully understood. In this study, we...

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Identifiers

PMID: 35831437
DOI: 10.1038/s41598-022-15784-5
PMCID: PMC9279342

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