{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Al-Azzani M"],"funding":["Leverhulme Trust","NIA NIH HHS","Michael J. Fox Foundation for Parkinson's Research","Addenbrooke's Charitable Trust","National Institutes of Health","Else Kröner-Fresenius-Stiftung","Royal Society","German Federal Ministry of Education and Research","Deutsche Forschungsgemeinschaft","NINDS NIH HHS","European Joint Programme on Rare Diseases, EJP RD Joint Transnational Call 2022","NIH HHS","Michael J. Fox Foundation for Parkinson&apos;s Research"],"pagination":["2732-2745"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12710137"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["40(12)"],"pubmed_abstract":["<h4>Background</h4>Parkinson's disease (PD) is a complex multifactorial disorder with a genetic component in about 15% of cases. Multiplications and point mutations in SNCA gene, encoding α-synuclein (aSyn), are linked to rare familial forms of PD.<h4>Objective</h4>Our goal was to assess the clinical presentation and the biological effects of a novel K58N aSyn mutation identified in a patient with PD.<h4>Methods</h4>We describe the clinical presentation associated with the novel mutation, together with genetic testing through whole exome sequencing (WES). Furthermore, we conducted extensive biophysical and cellular assays to assess the functional consequences of this novel variant.<h4>Results</h4>The patient exhibited typical features of sporadic PD with early onset and a benign disease co"],"journal":["Movement disorders : official journal of the Movement Disorder Society"],"pubmed_title":["A Novel α-Synuclein K58N Missense Variant in a Patient with Parkinson's Disease."],"pmcid":["PMC12710137"],"funding_grant_id":["SFB1286 (B8)","900325","RF1 NS133979","R21 NS121826","RF1 NS122880","EXC 2067/1- 390729940","NS121826","DHF/R1/201228","NS099328","R01 NS122880","EXC 2067/1‐ 390729940","01GM2302","SFB1286 (A12)","2022_EKSE.185","MJFF‐022411","R01 NS109209","MJFF-022411","NS122880","AG085401","R21 AG085401","R01 NS099328","RPG‐2022‐257","NS109209","RPG-2022-257"],"pubmed_authors":["Winkelmann J","Fernandez-Busnadiego R","Jayanthi V","Sicking K","Zech M","de Opakua AI","Ramalingam N","Fernandez CO","Chandran A","Agarwal A","Zweckstetter M","Mestre G","Lautenschlager J","Outeiro TF","Al-Azzani M","Schwager M","Shvachiy L","Chaves SR","Pauli S","Ramon M","Dettmer U","Mollenhauer B","Trenkwalder C","Weber S","Amaral L"],"additional_accession":[]},"is_claimable":false,"name":"A Novel α-Synuclein K58N Missense Variant in a Patient with Parkinson's Disease.","description":"<h4>Background</h4>Parkinson's disease (PD) is a complex multifactorial disorder with a genetic component in about 15% of cases. Multiplications and point mutations in SNCA gene, encoding α-synuclein (aSyn), are linked to rare familial forms of PD.<h4>Objective</h4>Our goal was to assess the clinical presentation and the biological effects of a novel K58N aSyn mutation identified in a patient with PD.<h4>Methods</h4>We describe the clinical presentation associated with the novel mutation, together with genetic testing through whole exome sequencing (WES). Furthermore, we conducted extensive biophysical and cellular assays to assess the functional consequences of this novel variant.<h4>Results</h4>The patient exhibited typical features of sporadic PD with early onset and a benign disease co","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Dec","modification":"2026-07-15T07:46:12.62Z","creation":"2026-07-01T03:07:43.231Z"},"accession":"S-EPMC12710137","cross_references":{"pubmed":["40905240"],"doi":["10.1002/mds.70030"]}}