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Molecular biomarkers in GNAO1 encephalopathies.

作者信息

Katanaev Vladimir L, Valnohova Jana

机构信息

Translational Research Center in Oncohaematology, Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, Geneva, Switzerland (Katanaev VL, Valnohova J).

Translational Oncology Research Center, Qatar Biomedical Research Institute (QBRI), College of Health and Life Sciences, Hamad Bin Khalifa University (HBKU), Qatar Foundation, Doha, Qatar (Katanaev VL).

出版信息

Neural Regen Res. 2026 Apr 1;21(4):1570-1571. doi: 10.4103/NRR.NRR-D-24-01550. Epub 2025 Mar 25.

DOI:10.4103/NRR.NRR-D-24-01550
PMID:40145969
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12407524/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/056e/12407524/52290ab702bd/NRR-21-1570-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/056e/12407524/52290ab702bd/NRR-21-1570-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/056e/12407524/52290ab702bd/NRR-21-1570-g001.jpg

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本文引用的文献

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Clinical-molecular profiling of atypical patients: Novel pathogenic variants, unusual manifestations, and severe molecular dysfunction.非典型患者的临床分子特征分析：新型致病变异、不寻常表现及严重分子功能障碍
Genes Dis. 2025 Jan 9;12(5):101522. doi: 10.1016/j.gendis.2025.101522. eCollection 2025 Sep.
2
Phenotypic Diversity in GNAO1 Patients: A Comprehensive Overview of Variants and Phenotypes.GNAO1患者的表型多样性：变异与表型的全面概述
Hum Mutat. 2023 Aug 7;2023:6628283. doi: 10.1155/2023/6628283. eCollection 2023.
3
Germline mutations in a G protein identify signaling cross-talk in T cells.
胚系突变的 G 蛋白鉴定了 T 细胞中的信号串扰。
Science. 2024 Sep 20;385(6715):eadd8947. doi: 10.1126/science.add8947.
4
Zinc for GNAO1 encephalopathy: Preclinical profiling and a clinical case.用于GNAO1脑病的锌：临床前分析及1例临床病例
Med. 2025 Jan 10;6(1):100495. doi: 10.1016/j.medj.2024.07.023. Epub 2024 Aug 16.
5
Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation.GNAO1 中的临床和分子特征分析可实现表型-基因型相关性。
Mov Disord. 2024 Sep;39(9):1578-1591. doi: 10.1002/mds.29881. Epub 2024 Jun 16.
6
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.
7
Molecular annotation of G protein variants in a neurological disorder.神经紊乱中 G 蛋白变体的分子注释。
Cell Rep. 2023 Dec 26;42(12):113462. doi: 10.1016/j.celrep.2023.113462. Epub 2023 Nov 18.
8
Severity of GNAO1-Related Disorder Correlates with Changes in G-Protein Function.GNAO1 相关疾病的严重程度与 G 蛋白功能变化相关。
Ann Neurol. 2023 Nov;94(5):987-1004. doi: 10.1002/ana.26758. Epub 2023 Aug 31.
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Sci Adv. 2022 Oct 7;8(40):eabn9350. doi: 10.1126/sciadv.abn9350.
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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.