Detalhe da pesquisa
1.
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Am J Med Genet A
; 167A(2): 296-312, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25604658
2.
N-terminal acetylation inhibits protein targeting to the endoplasmic reticulum.
PLoS Biol
; 9(5): e1001073, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21655302
3.
Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.
Hum Mutat
; 34(8): 1066-70, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23592335
4.
Nitrogen regulates AMPK to control TORC1 signaling.
Curr Biol
; 25(4): 445-54, 2015 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-25639242
5.
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.
Lancet Neurol
; 12(12): 1159-69, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24183309
6.
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.
Nat Genet
; 44(11): 1243-8, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23001123
7.
Sec61p is required for ERAD-L: genetic dissection of the translocation and ERAD-L functions of Sec61P using novel derivatives of CPY.
J Biol Chem
; 283(49): 33883-8, 2008 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-18819915