Multi-parametric analysis of 57 SYNGAP1 variants reveal impacts on GTPase signaling, localization, and protein stability.

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Title: Multi-parametric analysis of 57 SYNGAP1 variants reveal impacts on GTPase signaling, localization, and protein stability.
Authors: Meili F; Djavad Mowafaghian Centre for Brain Health, University of British Columbia, Vancouver, BC V6T2B5, Canada., Wei WJ; Department of Cellular and Physiological Sciences, University of British Columbia, Vancouver, BC V6T1Z3, Canada., Sin WC; Djavad Mowafaghian Centre for Brain Health, University of British Columbia, Vancouver, BC V6T2B5, Canada., Meyers WM; Djavad Mowafaghian Centre for Brain Health, University of British Columbia, Vancouver, BC V6T2B5, Canada., Dascalu I; Department of Cellular and Physiological Sciences, University of British Columbia, Vancouver, BC V6T1Z3, Canada., Callaghan DB; Department of Psychiatry, University of British Columbia, Vancouver, BC V6T2A1, Canada., Rogic S; Department of Psychiatry, University of British Columbia, Vancouver, BC V6T2A1, Canada; Michael Smith Laboratories, University of British Columbia, Vancouver, BC V6T1Z4, Canada., Pavlidis P; Djavad Mowafaghian Centre for Brain Health, University of British Columbia, Vancouver, BC V6T2B5, Canada; Department of Psychiatry, University of British Columbia, Vancouver, BC V6T2A1, Canada; Michael Smith Laboratories, University of British Columbia, Vancouver, BC V6T1Z4, Canada., Haas K; Djavad Mowafaghian Centre for Brain Health, University of British Columbia, Vancouver, BC V6T2B5, Canada; Department of Cellular and Physiological Sciences, University of British Columbia, Vancouver, BC V6T1Z3, Canada. Electronic address: kurt.haas@ubc.ca.
Source: American journal of human genetics [Am J Hum Genet] 2021 Jan 07; Vol. 108 (1), pp. 148-162. Date of Electronic Publication: 2020 Dec 11.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1537-6605
DOI:10.1016/j.ajhg.2020.11.011