Detalhe da pesquisa
1.
Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss-of-function phenotypes in vitro.
J Inherit Metab Dis
; 44(1): 240-252, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32876354
2.
Structural determinants and cellular environment define processed actin as the sole substrate of the N-terminal acetyltransferase NAA80.
Proc Natl Acad Sci U S A
; 115(17): 4405-4410, 2018 04 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-29581307
3.
NAA10 dysfunction with normal NatA-complex activity in a girl with non-syndromic ID and a de novo NAA10 p.(V111G) variant - a case report.
BMC Med Genet
; 19(1): 47, 2018 03 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-29558889
4.
A Role for Human N-alpha Acetyltransferase 30 (Naa30) in Maintaining Mitochondrial Integrity.
Mol Cell Proteomics
; 15(11): 3361-3372, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27694331
5.
The world of protein acetylation.
Biochim Biophys Acta
; 1864(10): 1372-401, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27296530
6.
Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects.
Hum Mol Genet
; 24(7): 1956-76, 2015 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25489052
7.
RACK1 (receptor for activated C-kinase 1) interactions with spectrin repeat elements.
J Mol Recognit
; 28(1): 49-58, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26268370
8.
Optimized bisubstrate inhibitors for the actin N-terminal acetyltransferase NAA80.
Front Chem
; 11: 1202501, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37408560
9.
Identification of an alternatively spliced nuclear isoform of human N-terminal acetyltransferase Naa30.
Gene
; 644: 27-37, 2018 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-29247799
10.
A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy.
Eur J Hum Genet
; 26(9): 1294-1305, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29748569
11.
LEDGF/p75 has increased expression in blasts from chemotherapy-resistant human acute myelogenic leukemia patients and protects leukemia cells from apoptosis in vitro.
Mol Cancer
; 6: 31, 2007 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-17451600
12.
The N-terminal acetyltransferase Naa10 is essential for zebrafish development.
Biosci Rep
; 35(5)2015 Aug 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26251455
13.
De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females.
Eur J Hum Genet
; 23(5): 602-9, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25099252
14.
Downregulation of N-terminal acetylation triggers ABA-mediated drought responses in Arabidopsis.
Nat Commun
; 6: 7640, 2015 Jul 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-26184543
15.
Receptor for activated protein C kinase 1 (RACK1) is overexpressed in papillary thyroid carcinoma.
Thyroid
; 21(11): 1217-25, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22007921
16.
The MDM2 promoter SNP285C/309G haplotype diminishes Sp1 transcription factor binding and reduces risk for breast and ovarian cancer in Caucasians.
Cancer Cell
; 19(2): 273-82, 2011 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21316605
17.
Naa10 in development and disease.
Oncotarget
; 6(33): 34041-2, 2015 Oct 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-26431279
18.
RACK1 regulates Ki-Ras-mediated signaling and morphological transformation of NIH 3T3 cells.
Int J Cancer
; 120(5): 961-9, 2007 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-17149700