{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,20]],"date-time":"2025-09-20T05:15:35Z","timestamp":1758345335130,"version":"3.44.0"},"reference-count":77,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2025,9,10]],"date-time":"2025-09-10T00:00:00Z","timestamp":1757462400000},"content-version":"vor","delay-in-days":252,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100009659","name":"Guangzhou Medical University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100021171","name":"Basic and Applied Basic Research Foundation of Guangdong Province","doi-asserted-by":"publisher","award":["2021A1515110596","2022A1515220024"],"award-info":[{"award-number":["2021A1515110596","2022A1515220024"]}],"id":[{"id":"10.13039\/501100021171","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Basic and Applied Basic Research Fund of Guangzhou science","award":["2024A04J3630"],"award-info":[{"award-number":["2024A04J3630"]}]},{"name":"Hunan Provincial Health Commission Scientific Research Plan Project","award":["A20182006"],"award-info":[{"award-number":["A20182006"]}]},{"name":"Guangzhou Medical Key Discipline Construction Project"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,9,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Non-coding CGG repeat expansions in fragile X messenger ribonucleoprotein 1 (FMR1) gene lead to fragile X\u2013related disorders. Other than the CGG repeat expansion, several FMR1 coding variants have recently been identified to impair the molecular functions of fragile X messenger ribonucleoprotein 1 (FMRP), implicating in FMR1-associated phenotypes. This study aims to investigate the pathogenic role of a novel FMR1 missense variant from a parkinsonism patient without the typical CGG repeat expansion. Pathogenicity of the FMRP-P626L mutant was predicted using in silico analysis and structural prediction. A mouse model of FMRP-P608L mutation matched with the human FMRP-P626L was established. The effects on dopamine pathway in FMRP-P608L mice were investigated using behavioural test, immunohistochemistry, ELISA, quantitative PCR (qPCR), western blotting, co-immunoprecipitation and pharmacological intervention. We identified a missense variant (c.1877 C&amp;gt;T, p.P626L) in coding region of FMR1 gene from a patient diagnosed with progressive rigidity and bradykinesia, which was predicted to be a damaging mutation. The corresponding mutation (P608L) mice at 6 months old exhibited impaired motor behaviours and decreased in striatal dopamine level in an age-dependent fashion. The mutant reduced FMRP binding to G protein\u2013coupled receptor kinase 2 (GRK2), which resulted in abnormal localization of GRK2 and impairment of dopamine D1 receptor (D1R) pathways. Administration of D1R agonist rescued the motor disabilities observed in the mutation mice. This is the first report linking a point mutation in FMR1 to parkinsonism, demonstrating that the FMRP-P608L mutation impairs the D1R pathway by reducing its binding to GRK2. Our findings enhance the understanding of pathogenic mechanisms underlying selective functional impairment by mutations.<\/jats:p>","DOI":"10.1093\/braincomms\/fcaf338","type":"journal-article","created":{"date-parts":[[2025,9,4]],"date-time":"2025-09-04T11:54:01Z","timestamp":1756986841000},"source":"Crossref","is-referenced-by-count":0,"title":["Age-dependent impairment of dopamine D1 receptor signalling in mouse striatum by <i>FMR1<\/i> variant P626L"],"prefix":"10.1093","volume":"7","author":[{"given":"Junyi","family":"Fu","sequence":"first","affiliation":[{"name":"Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and Ministry of Education of China, The Second Affiliated Hospital of Guangzhou Medical University , Guangzhou, Guangdong 510260 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and Ministry of Education of China, The Second Affiliated Hospital of Guangzhou Medical University , Guangzhou, Guangdong 510260 ,","place":["China"]},{"name":"Department of Neurology, The Third People\u2019s Hospital of Huizhou, Affiliated Hospital of Guangzhou Medical University , Huizhou, Guangdong 516002 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liping","family":"Shen","sequence":"additional","affiliation":[{"name":"Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and Ministry of Education of China, The Second Affiliated Hospital of Guangzhou Medical University , Guangzhou, Guangdong 510260 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiaming","family":"Fu","sequence":"additional","affiliation":[{"name":"School of of Life Sciences and Biopharmaceutics, Guangdong Pharmaceutical University , Guangzhou, Guangdong 510006 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xianlai","family":"Duan","sequence":"additional","affiliation":[{"name":"Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and Ministry of Education of China, The Second Affiliated Hospital of Guangzhou Medical University , Guangzhou, Guangdong 510260 ,","place":["China"]},{"name":"Department of Neurology, The Third Hospital of Changsha , Hunan 410015 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Detian","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and Ministry of Education of China, The Second Affiliated Hospital of Guangzhou Medical University , Guangzhou, Guangdong 510260 ,","place":["China"]},{"name":"Department of Neurology, Longgang District Central Hospital of Shenzhen , Shenzhen, Guangdong 510120 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jingyi","family":"Long","sequence":"additional","affiliation":[{"name":"Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and Ministry of Education of China, The Second Affiliated Hospital of Guangzhou Medical University , Guangzhou, Guangdong 510260 ,","place":["China"]},{"name":"Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center , Nijmegen 6525 GA ,","place":["The Netherlands"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shunhua","family":"Ye","sequence":"additional","affiliation":[{"name":"Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and Ministry of Education of China, The Second Affiliated Hospital of Guangzhou Medical University , Guangzhou, Guangdong 510260 ,","place":["China"]},{"name":"Department of Emergency, Sun Yat-sen Memorial Hospital, Sun Yat-sen University , Guangzhou, Guangdong 518116 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lingjia","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and Ministry of Education of China, The Second Affiliated Hospital of Guangzhou Medical University , Guangzhou, Guangdong 510260 ,","place":["China"]},{"name":"Department of Geriatrics, The Second Hospital of Ningbo , Ningbo, Zhejiang 315010 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