Article
PARP10 deficiency manifests by severe developmental delay and DNA repair defect.
Neurogenetics - 1 Oct 2016
Shahrour Maher Awni, Nicolae Claudia M, Edvardson Simon, Ashhab Motee, Galvan Adri M, Constantin Daniel, Abu-Libdeh Bassam, Moldovan George-Lucian, Elpeleg Orly
Abstract excerpt
DNA repair mechanisms such as nucleotide excision repair (NER) and translesion synthesis (TLS) are dependent on proliferating cell nuclear antigen (PCNA), a DNA polymerase accessory protein. Recently, homozygosity for p.Ser228Ile mutation in the PCNA gene was reported in patients with neurodegeneration and impaired NER. Using exome sequencing, we identified a homozygous deleterious mutation, c.648delAG, in the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.