Published in Hum Mutat on May 04, 2016
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Proteomic and genomic characterization of a yeast model for Ogden syndrome. Yeast (2016) 0.75
A method and server for predicting damaging missense mutations. Nat Methods (2010) 78.53
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc (2009) 38.62
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Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet (1992) 11.38
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet (2012) 8.42
MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods (2014) 6.43
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Proteomics analyses reveal the evolutionary conservation and divergence of N-terminal acetyltransferases from yeast and humans. Proc Natl Acad Sci U S A (2009) 4.09
Identification and characterization of genes and mutants for an N-terminal acetyltransferase from yeast. EMBO J (1989) 4.08
Regulation of the p300 HAT domain via a novel activation loop. Nat Struct Mol Biol (2004) 3.70
Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency. Am J Hum Genet (2011) 3.43
Targeting of the Arf-like GTPase Arl3p to the Golgi requires N-terminal acetylation and the membrane protein Sys1p. Nat Cell Biol (2004) 2.37
Identification and characterization of the human ARD1-NATH protein acetyltransferase complex. Biochem J (2005) 1.96
Golgi targeting of ARF-like GTPase Arl3p requires its Nalpha-acetylation and the integral membrane protein Sys1p. Nat Cell Biol (2004) 1.94
N-terminal acetylation acts as an avidity enhancer within an interconnected multiprotein complex. Science (2011) 1.78
Control of protein quality and stoichiometries by N-terminal acetylation and the N-end rule pathway. Mol Cell (2013) 1.64
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. J Med Genet (2014) 1.48
N-terminal acetylation inhibits protein targeting to the endoplasmic reticulum. PLoS Biol (2011) 1.48
Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study. Lancet (1999) 1.46
Molecular basis for N-terminal acetylation by the heterodimeric NatA complex. Nat Struct Mol Biol (2013) 1.16
Skewed X-chromosome inactivation is common in fetuses or newborns associated with confined placental mosaicism. Am J Hum Genet (1997) 1.12
Molecular, cellular, and physiological significance of N-terminal acetylation. Int Rev Cell Mol Biol (2015) 1.11
Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects. Hum Mol Genet (2014) 1.02
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. Am J Hum Genet (2015) 1.01
A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome. J Med Genet (2014) 1.01
De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females. Eur J Hum Genet (2014) 0.99
Loss of amino-terminal acetylation suppresses a prion phenotype by modulating global protein folding. Nat Commun (2014) 0.95
Application of reverse-phase HPLC to quantify oligopeptide acetylation eliminates interference from unspecific acetyl CoA hydrolysis. BMC Proc (2009) 0.93
Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test. Clin Genet (2016) 0.92
A Saccharomyces cerevisiae model reveals in vivo functional impairment of the Ogden syndrome N-terminal acetyltransferase NAA10 Ser37Pro mutant. Mol Cell Proteomics (2014) 0.89
NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment. Sci Rep (2015) 0.87
The biological functions of Naa10 - From amino-terminal acetylation to human disease. Gene (2015) 0.87
A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype. J Med Genet (2013) 0.82
USP18 lack in microglia causes destructive interferonopathy of the mouse brain. EMBO J (2015) 1.05
Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. Eur J Hum Genet (2016) 0.87
N-terminal acetylome analysis reveals the specificity of Naa50 (Nat5) and suggests a kinetic competition between N-terminal acetyltransferases and methionine aminopeptidases. Proteomics (2015) 0.85
WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease. Hum Mutat (2015) 0.82
N-terminal modifications of cellular proteins: The enzymes involved, their substrate specificities and biological effects. Proteomics (2015) 0.82
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature. Genet Med (2015) 0.82
Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum. J Med Genet (2016) 0.79
Naa10 in development and disease. Oncotarget (2015) 0.77
FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum. J Med Genet (2016) 0.76
Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1. Eur J Med Genet (2016) 0.75
Holding it together: Naa60 at the Golgi. Oncotarget (2015) 0.75
Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma. Orphanet J Rare Dis (2016) 0.75
The Slavic NBN Founder Mutation: A Role for Reproductive Fitness? PLoS One (2016) 0.75
A recessive form of extreme macrocephaly and mild intellectual disability complements the spectrum of PTEN hamartoma tumour syndrome. Eur J Hum Genet (2015) 0.75
Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome. Epilepsy Behav (2017) 0.75
Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature. Sci Rep (2017) 0.75