GEOapplication/xmlftp://ftp.ncbi.nlm.nih.gov/geo/series/GSE284nnn/GSE284549/primaryOK200Methylation profilingHomo sapiensMethylation profiling by high throughput sequencing Expression profiling by high throughput sequencing Otherhttps://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE284549GEOGSEfalseRFTS mutation alters RNA splicing and drives neurodegeneration via its RNA-binding functionDNA 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.2026/06/01GSE284549GSM8683156GSM8683178GSM8683211GSM8683179GSM8683212GSM8683157GSM8683213GSM8683158GSM8683159GSM8683214GSM8683215GSM8683216GSM8683170GSM8683171GSM8683172GSM8683173GSM8683152GSM8683174GSM8683153GSM8683175GSM8683176GSM8683154GSM8683210GSM8683155GSM8683177GSM8683208GSM8683209GSM8683167GSM8683168GSM8683169GSM8866187GSM8683181GSM8866186GSM8683160GSM8683182GSM8683161GSM8683183GSM8866185GSM8866184GSM8683162GSM8866183GSM8683163GSM8683164GSM8683165GSM8683166GSM8683180GSM886618824676284549Homo sapiens