In two brothers born to consanguineous parents, we identified an unusual neurological
disease that manifested with ataxia, psychomotor retardation, cerebellar and cerebral …

Transcription of ribosomal RNA (rRNA) by RNA Polymerase (Pol) I in the nucleolus is
necessary for ribosome biogenesis, which is intimately tied to cell growth and proliferation …

Age-related changes such as increased oxidative stress and DNA damage are important
risk factors for Alzheimer's disease (AD). This study aimed to clarify the role of POLD1, the …

Mutation in CUL4B gene is one of the most common causes for X-linked intellectual
disability (XLID). CUL4B is the scaffold protein in CUL4B-RING ubiquitin ligase (CRL4B) …

Purpose Neural tube defects are a group of birth defects caused by failure of neural tube
closure during development. The etiology of NTD, requiring a complex interaction between …

Oligodendrocytes (OLs) produce myelin in the central nervous system (CNS), which
accelerates the propagation of action potentials and supports axonal integrity. As a major …

By integrating genome-wide maps of RNA polymerase II (Polr2a) binding with gene
expression data and H3ac and H3K4me3 profiles, we characterized promoters with …

Overlapping gene arrangements can potentially contribute to gene expression regulation. A
mammalian interspersed repeat (MIR) nested in antisense orientation within the first intron of …

Accumulating evidence indicates that the lysosomal Ragulator complex is essential for full
activation of the mechanistic target of rapamycin complex 1 (mTORC1). Abnormal mTORC1 …

Sir, We read with great interest the original article 'Hypomorphic mutations in POLR3A are a
frequent cause of sporadic and recessive spastic ataxia'(Minnerop et al., 2017). In a large …