{"database":"GEO","file_versions":[{"headers":{"Content-Type":["application/json"]},"body":{"files":{"Other":["ftp://ftp.ncbi.nlm.nih.gov/geo/series/GSE284nnn/GSE284549/"]},"type":"primary"},"statusCodeValue":200,"statusCode":"OK"}],"scores":null,"additional":{"omics_type":["Methylation profiling"],"species":["Homo sapiens"],"gds_type":["Methylation profiling by high throughput sequencing"," Expression profiling by high throughput sequencing"," Other"],"full_dataset_link":["https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE284549"],"repository":["GEO"],"entry_type":["GSE"],"additional_accession":[]},"is_claimable":false,"name":"RFTS mutation alters RNA splicing and drives neurodegeneration via its RNA-binding function","description":"DNA Methyltransferase 1 (DNMT1) is a key enzyme in maintaining DNA methylation. Mutations in the RFTS domain of DNMT1 are associated with two neurodegenerative diseases: Hereditary sensory and autonomic neuropathy type 1E with dementia and hearing loss (HSAN1E) and Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN), the molecular pathogenic mechanisms of which have not yet been elucidated. Pre-mRNA alternative splicing is an important post-transcriptional process for increasing protein functional diversity in organisms, and the dysregulation of the alternative splicing process plays a significant role in the occurrence and development of neurodegenerative diseases.","dates":{"publication":"2026/06/01"},"accession":"GSE284549","cross_references":{"GSM":["GSM8683156","GSM8683178","GSM8683211","GSM8683179","GSM8683212","GSM8683157","GSM8683213","GSM8683158","GSM8683159","GSM8683214","GSM8683215","GSM8683216","GSM8683170","GSM8683171","GSM8683172","GSM8683173","GSM8683152","GSM8683174","GSM8683153","GSM8683175","GSM8683176","GSM8683154","GSM8683210","GSM8683155","GSM8683177","GSM8683208","GSM8683209","GSM8683167","GSM8683168","GSM8683169","GSM8866187","GSM8683181","GSM8866186","GSM8683160","GSM8683182","GSM8683161","GSM8866185","GSM8683183","GSM8866184","GSM8683162","GSM8866183","GSM8683163","GSM8683164","GSM8683165","GSM8683166","GSM8866188","GSM8683180"],"GPL":["24676"],"GSE":["284549"],"taxon":["Homo sapiens"]}}