Ontology highlight
ABSTRACT:
SUBMITTER: Thorn A
PROVIDER: S-EPMC3458558 | biostudies-literature | 2012 Sep
REPOSITORIES: biostudies-literature
Nucleic acids research 20120626 17
Mutations in the gene of human RNase T2 are associated with white matter disease of the human brain. Although brain abnormalities (bilateral temporal lobe cysts and multifocal white matter lesions) and clinical symptoms (psychomotor impairments, spasticity and epilepsy) are well characterized, the pathomechanism of RNase T2 deficiency remains unclear. RNase T2 is the only member of the Rh/T2/S family of acidic hydrolases in humans. In recent years, new functions such as tumor suppressing propert ...[more]