ARMC5 is implicated in several pathological conditions, but its function remains unknown.
We have previously identified CUL3 and RPB1 (the largest subunit of RNA polymerase II …

Mutations in POLG disrupt mt DNA replication and cause devastating diseases often with
neurological phenotypes. Defining disease mechanisms has been hampered by limited …

Background Spina bifida is a malformation of the neural tube and is the most common of
neural tube defects (NTDs). The etiology of spina bifida is largely unknown, although it is …

Objective To expand the clinical phenotype of POLR3A mutations by assessing the
functional consequences of a missense and a splicing acceptor mutation. Methods We …

Abstract Background RNA polymerase III (Pol III)‐related disorders are autosomal recessive
neurodegenerative disorders caused by variants in POLR3A or POLR3B. Recently, a novel …

Genomic instability resulting from defective DNA damage responses or repair causes
several abnormalities, including progressive cerebellar ataxia, for which the molecular …

RNA polymerase III (Pol III) occurs in two versions, one containing the POLR3G subunit and
the other the closely related POLR3GL subunit. It is not clear whether these two Pol III forms …

DNA polymerase gamma (POLG), the mt DNA replicase, is a common cause of
mitochondrial neurodegeneration. Why POLG defects especially cause central nervous …

POLR3B gene encodes the 2nd largest catalytic subunit and affects the function of RNA
polymerase III enzymes in transcription. Bi‐allelic variants in POLR3B pathogenically cause …

Despite extensive efforts, half of patients with rare movement disorders such as hereditary
spastic paraplegias and cerebellar ataxias remain genetically unexplained, implicating …