{"database":"GEO","file_versions":[{"headers":{"Content-Type":["application/json"]},"body":{"files":{"Other":["ftp://ftp.ncbi.nlm.nih.gov/geo/series/GSE284nnn/GSE284389/"]},"type":"primary"},"statusCode":"OK","statusCodeValue":200}],"scores":null,"additional":{"omics_type":["Other"],"species":["Homo sapiens"],"gds_type":["Other"],"full_dataset_link":["https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE284389"],"repository":["GEO"],"entry_type":["GSE"],"additional_accession":[]},"is_claimable":false,"name":"DNMT1 RFTS mutation alters RNA splicing and drives neurodegeneration via its RNA-binding function [RNA-BisSeq]","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":"GSE284389","cross_references":{"GSM":["GSM8683211","GSM8683212","GSM8683213","GSM8683214","GSM8683215","GSM8683216","GSM8683208","GSM8683209","GSM8683210"],"GPL":["24676"],"GSE":["284389"],"taxon":["Homo sapiens"]}}