Contactin-associated protein-like 2 (CNTNAP2) mutations impair the essential α-secretase cleavages,...
Contactin-associated protein-like 2 (CNTNAP2) mutations impair the essential α-secretase cleavages, leading to autism-like phenotypes
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Author / Creator
Zhang, Qing , Xing, Mengen , Bao, Zhengkai , Xu, Lu , Bai, Yang , Chen, Wanqi , Pan, Wenhao , Cai, Fang , Wang, Qunxian , Guo, Shipeng , Zhang, Jing , Wang, Zhe , Wu, Yili , Zhang, Yun , Li, Jia-Da and Song, Weihong
Publisher
London: Nature Publishing Group UK
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Language
English
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Publisher
London: Nature Publishing Group UK
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Contents
Mutations in the
Contactin-associated protein-like 2
(
CNTNAP2
) gene are associated with autism spectrum disorder (ASD), and ectodomain shedding of the CNTNAP2 protein plays a role in its function. However, key enzymes involved in the C-terminal cleavage of CNTNAP2 remain largely unknown, and the effect of ASD-associated mutations on t...
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Full title
Contactin-associated protein-like 2 (CNTNAP2) mutations impair the essential α-secretase cleavages, leading to autism-like phenotypes
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TN_cdi_doaj_primary_oai_doaj_org_article_19850e2db8e747e9b9ff10e5865eac4d
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_19850e2db8e747e9b9ff10e5865eac4d
Other Identifiers
ISSN
2059-3635,2095-9907
E-ISSN
2059-3635
DOI
10.1038/s41392-024-01768-6
