Atypical Aicardi-Goutieres syndrome: is the WRN locus a modifier?
Lessel, Davor; Saha, Bidisha; Hisama, Fuki; Kaymakamzade, Bahar; Nurlu, Gulay; Gursoy-Özdemir, Yasemin; Thiele, Holger; Nürnberg, Peter; Martin, George M; Kubisch, Christian; Oshima, Junko.
Am J Med Genet A
; 164A(10): 2510-3, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-24989684
SAMHD1 acts at stalled replication forks to prevent interferon induction.
Impaired dNTPase activity of SAMHD1 by phosphomimetic mutation of Thr-592.
Unwinding forward and sliding back: an intermittent unwinding mode of the BLM helicase.
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
A clinical course of patient with Aicardi-Goutieres syndrome due to SAMHD1 gene abnormality.
Syndrome d'Aicardi-Goutières associé à un quasi-Moyamoya par une mutation biallélique de SAMHD1.
RECQL5 plays co-operative and complementary roles with WRN syndrome helicase.
SAMHD1-dependent retroviral control and escape in mice.
SAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi-goutières syndrome-associated mutations.
The Deoxynucleoside Triphosphate Triphosphohydrolase Activity of SAMHD1 Protein Contributes to the Mitochondrial DNA Depletion Associated with Genetic Deficiency of Deoxyguanosine Kinase.