{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Yuan Z"],"funding":["China Postdoctoral Science Foundation","National Natural Science Foundation of China (National Science Foundation of China)"],"pagination":["296"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12423332"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["10(1)"],"pubmed_abstract":["Essential tremor (ET) is a common neurological disease that is characterized by 4-12 Hz kinetic tremors of the upper limbs and high genetic heterogeneity. Although numerous candidate genes and loci have been reported, the etiology of ET remains unclear. A novel ET-related gene was initially identified in a five-generation family via whole-exome sequencing, and other variants were identified in 772 familial ET probands and 640 sporadic individuals via whole-genome sequencing. Among 71 (9.18%) Chinese families and 47 (7.34%) sporadic individuals with ET, we identified 15 types of protein-altering variants in solute carrier family 38 member 6 (SLC38A6), which encodes sodium-coupled neutral amino acid transporter 6 (SNAT6) and is inherited in an autosomal dominant pattern. Over-expression of m"],"journal":["Signal transduction and targeted therapy"],"pubmed_title":["Loss-of-function variations in solute carrier family 38 member 6 are associated with essential tremor."],"pmcid":["PMC12423332"],"funding_grant_id":["2024M762007","U20A20355","GZB20240453"],"pubmed_authors":["Liu CJ","Liu J","Yang K","Wang C","Cheng A","Cui J","Tang B","Zhang L","Ma T","Jiang M","Guo J","Sun Q","Luo J","Zhang Y","Cao Y","Wang T","Cui H","Liu JY","Shen Y","Sun H","Xu X","Guo AY","Yang S","Yuan Z"],"additional_accession":[]},"is_claimable":false,"name":"Loss-of-function variations in solute carrier family 38 member 6 are associated with essential tremor.","description":"Essential tremor (ET) is a common neurological disease that is characterized by 4-12 Hz kinetic tremors of the upper limbs and high genetic heterogeneity. Although numerous candidate genes and loci have been reported, the etiology of ET remains unclear. A novel ET-related gene was initially identified in a five-generation family via whole-exome sequencing, and other variants were identified in 772 familial ET probands and 640 sporadic individuals via whole-genome sequencing. Among 71 (9.18%) Chinese families and 47 (7.34%) sporadic individuals with ET, we identified 15 types of protein-altering variants in solute carrier family 38 member 6 (SLC38A6), which encodes sodium-coupled neutral amino acid transporter 6 (SNAT6) and is inherited in an autosomal dominant pattern. Over-expression of m","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Sep","modification":"2026-06-03T02:19:15.759Z","creation":"2026-04-23T03:09:57.255Z"},"accession":"S-EPMC12423332","cross_references":{"pubmed":["40931016"],"doi":["10.1038/s41392-025-02380-y"]}}