{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Noda M"],"funding":["JSPS KAKENHI Grant"],"pagination":["31911"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11686380"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["14(1)"],"pubmed_abstract":["Growth-associated protein 43 (GAP43) is a membrane-associated phosphoprotein predominantly expressed in the nervous systems, and controls axonal growth, branching, and pathfinding. While the association between GAP43 and human neurological disorders have been reported, the underlying mechanisms remain largely unknown. We performed whole exome sequencing on a patient with intellectual disability (ID), neurodevelopmental disorders, short stature, and skeletal abnormalities such as left-right difference in legs and digital deformities, and identified a heterozygous missense variation in the GAP43 gene [NM_001130064.2: c.436G > A/p.(E146K)]. The variant GAP43 protein was unstable in primary cultured cortical neurons and hippocampal neurons in vitro. In utero electroporation of the variant prot"],"journal":["Scientific reports"],"pubmed_title":["An unstable variant of GAP43 leads to neurodevelopmental deficiency."],"pmcid":["PMC11686380"],"funding_grant_id":["20K08265","20K08271","24390271"],"pubmed_authors":["Matsumoto A","Yamagata T","Nagata KI","Ito H","Kagami M","Matsumura T","Noda M","Tajima T"],"additional_accession":[]},"is_claimable":false,"name":"An unstable variant of GAP43 leads to neurodevelopmental deficiency.","description":"Growth-associated protein 43 (GAP43) is a membrane-associated phosphoprotein predominantly expressed in the nervous systems, and controls axonal growth, branching, and pathfinding. While the association between GAP43 and human neurological disorders have been reported, the underlying mechanisms remain largely unknown. We performed whole exome sequencing on a patient with intellectual disability (ID), neurodevelopmental disorders, short stature, and skeletal abnormalities such as left-right difference in legs and digital deformities, and identified a heterozygous missense variation in the GAP43 gene [NM_001130064.2: c.436G > A/p.(E146K)]. The variant GAP43 protein was unstable in primary cultured cortical neurons and hippocampal neurons in vitro. In utero electroporation of the variant prot","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Dec","modification":"2026-06-02T18:23:25.837Z","creation":"2025-04-05T22:53:42.137Z"},"accession":"S-EPMC11686380","cross_references":{"pubmed":["39738362"],"doi":["10.1038/s41598-024-83445-w"]}}