RNA polymerase (Pol) III transcribes small untranslated RNAs such as 5S ribosomal RNA,
transfer RNAs, and U6 small nuclear RNA. Because of the functions of these RNAs, Pol III …

GEMIN5 is essential for core assembly of small nuclear Ribonucleoproteins (snRNPs), the
building blocks of spliceosome formation. Loss-of-function mutations in GEMIN5 lead to a …

Background Identifying differentially expressed genes (DEGs) is a core task of transcriptome
analysis, as DEGs can reveal the molecular mechanisms underlying biological processes …

Matrin‐3 (MATR3) is an RNA‐binding protein implicated in neurodegenerative and
neurodevelopmental diseases. However, little is known regarding the role of MATR3 in …

Mutations in the Fused in Sarcoma (FUS) gene cause the familial and progressive form of
amyotrophic lateral sclerosis (ALS). FUS is a nuclear RNA-binding protein involved in RNA …

Abstract Gemin5 in the Survival Motor Neuron (SMN) complex serves as the RNA-binding
protein to deliver small nuclear RNAs (snRNAs) to the small nuclear ribonucleoprotein Sm …

CAPRIN1 is a ubiquitously expressed protein, abundant in the brain, where it regulates the
transport and translation of mRNAs of genes involved in synaptic plasticity. Here we …

Cerebellar ataxia is a genetically heterogeneous disorder. GEMIN5 encoding an RNA‐
binding protein of the survival of motor neuron complex, is essential for small nuclear …

The hereditary ataxias are a heterogenous group of disorders with an increasing number of
causative genes being described. Due to the clinical and genetic heterogeneity seen in …

Aim Mutations in the valosin‐containing protein (VCP) gene cause various lethal
proteinopathies that mainly include inclusion body myopathy with Paget's disease of bone …