Spinocerebellar ataxia (SCA) is a heterogeneous group of neurodegenerative ataxic
disorders with autosomal dominant inheritance. We aim to provide an update on the recent …

Mammalian Pumilio proteins, PUM1 and PUM2, are members of the PUF family of sequence-
specific RNA-binding proteins. In this review, we explore their mechanisms, regulatory …

Liquid–liquid phase separation is a major mechanism of subcellular compartmentalization,.
Although the segregation of RNA into phase-separated condensates broadly affects RNA …

Autosomal dominant cerebellar ataxias (ADCAs) are a group of neurodegenerative
disorders characterized by degeneration of the cerebellum and its connections. All ADCAs …

Dominantly inherited spinocerebellar ataxias (SCAs) are associated with phenotypes that
range from pure cerebellar to multisystemic. The list of implicated genes has lengthened in …

Objective To assess the benefits and limitations of whole genome sequencing (WGS)
compared to exome sequencing (ES) or multigene panel (MGP) in the molecular diagnosis …

Although numerous long noncoding RNAs (lncRNAs) have been identified, our
understanding of their roles in mammalian physiology remains limited. Here, we …

Abstract In 2016, the Movement Disorder Society Task Force for the Nomenclature of
Genetic Movement Disorders presented a new system for naming genetically determined …

Fragile X syndrome (FXS) is caused by the loss of fragile X mental retardation protein
(FMRP), an RNA binding protein whose deficiency impacts many brain functions, including …

Recent advances in understanding dominant spinocerebellar ataxias from clinical and
genetic points of view - PMC Back to Top Skip to main content NIH NLM Logo Access keys …