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Clinical-molecular profiling of atypical patients: Novel pathogenic variants, unusual manifestations, and severe molecular dysfunction.

作者信息

Solis Gonzalo P, Danti Federica Rachele, Larasati Yonika A, Graziola Federica, Croci Carolina, Osanni Elisa, Koval Alexey, Zorzi Giovanna, Katanaev Vladimir L

机构信息

Translational Research Center in Oncohaematology, Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, Geneva 1211, Switzerland.

Child Neuropsychiatry Unit, Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano 20133, Italy.

出版信息

Genes Dis. 2025 Jan 9;12(5):101522. doi: 10.1016/j.gendis.2025.101522. eCollection 2025 Sep.

DOI:10.1016/j.gendis.2025.101522
PMID:40452885
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12124604/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5db6/12124604/cb4d9b2d098c/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5db6/12124604/cb4d9b2d098c/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5db6/12124604/cb4d9b2d098c/gr1.jpg

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2
Neomorphic Gαo mutations gain interaction with Ric8 proteins in GNAO1 encephalopathies.在GNAO1脑病中，新形态的Gαo突变增强了与Ric8蛋白的相互作用。
J Clin Invest. 2024 Jun 14;134(15):e172057. doi: 10.1172/JCI172057.
3
GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments.GNAO1 相关运动障碍：表型、临床病程和治疗反应的最新进展。
Parkinsonism Relat Disord. 2023 Jun;111:105405. doi: 10.1016/j.parkreldis.2023.105405. Epub 2023 Apr 29.
4
Highlighting the Dystonic Phenotype Related to GNAO1.凸显与 GNAO1 相关的肌张力障碍表型。
Mov Disord. 2022 Jul;37(7):1547-1554. doi: 10.1002/mds.29074. Epub 2022 Jun 20.
5
Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation.严重儿童言语障碍：基因发现突显转录失调。
Neurology. 2020 May 19;94(20):e2148-e2167. doi: 10.1212/WNL.0000000000009441. Epub 2020 Apr 28.