{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Song JM"],"funding":["Korea Health Industry Development Institute","National Research Foundation of Korea"],"pagination":["2344-2359"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7984599"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["41(11)"],"pubmed_abstract":["Metabotropic glutamate receptor 7 (mGlu7) is an inhibitory heterotrimeric G-protein-coupled receptor that modulates neurotransmitter release and synaptic plasticity at presynaptic terminals in the mammalian central nervous system. Recent studies have shown that rare mutations in glutamate receptors and synaptic scaffold proteins are associated with neurodevelopmental disorders (NDDs). However, the role of presynaptic mGlu7 in the pathogenesis of NDDs remains largely unknown. Recent whole-exome sequencing (WES) studies in families with NDDs have revealed that several missense mutations (c.1865G>A:p.R622Q; c.461T>C:p.I154T; c.1972C>T:p.R658W and c.2024C>A:p.T675K) or a nonsense mutation (c.1757G>A:p.W586X) in the <i>GRM7</i> gene may be linked to NDDs. In the present study, we investigated t"],"journal":["The Journal of neuroscience : the official journal of the Society for Neuroscience"],"pubmed_title":["Pathogenic <i>GRM7</i> Mutations Associated with Neurodevelopmental Disorders Impair Axon Outgrowth and Presynaptic Terminal Development."],"pmcid":["PMC7984599"],"funding_grant_id":["NRF-2017M3C7A1029611","NRF-2020R1A5A1019023","HI18C0789","NRF-2018R1A2B6004759"],"pubmed_authors":["Lee S","Song JM","Kang M","Park DH","Suh YH","Park S"],"additional_accession":[]},"is_claimable":false,"name":"Pathogenic <i>GRM7</i> Mutations Associated with Neurodevelopmental Disorders Impair Axon Outgrowth and Presynaptic Terminal Development.","description":"Metabotropic glutamate receptor 7 (mGlu7) is an inhibitory heterotrimeric G-protein-coupled receptor that modulates neurotransmitter release and synaptic plasticity at presynaptic terminals in the mammalian central nervous system. Recent studies have shown that rare mutations in glutamate receptors and synaptic scaffold proteins are associated with neurodevelopmental disorders (NDDs). However, the role of presynaptic mGlu7 in the pathogenesis of NDDs remains largely unknown. Recent whole-exome sequencing (WES) studies in families with NDDs have revealed that several missense mutations (c.1865G>A:p.R622Q; c.461T>C:p.I154T; c.1972C>T:p.R658W and c.2024C>A:p.T675K) or a nonsense mutation (c.1757G>A:p.W586X) in the <i>GRM7</i> gene may be linked to NDDs. In the present study, we investigated t","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Mar","modification":"2025-04-19T14:20:12.926Z","creation":"2022-02-11T11:02:42.529Z"},"accession":"S-EPMC7984599","cross_references":{"pubmed":["33500274"],"doi":["10.1523/JNEUROSCI.2108-20.2021","10.1523/jneurosci.2108-20.2021"]}}