De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females
about
N-terminal modifications of cellular proteins: The enzymes involved, their substrate specificities and biological effectsBiochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defectsCrystal Structure of the Golgi-Associated Human Nα-Acetyltransferase 60 Reveals the Molecular Determinants for Substrate-Specific AcetylationThe biological functions of Naa10 - From amino-terminal acetylation to human diseaseDNA Damage Analysis in Children with Non-syndromic Developmental Delay by Comet AssayNAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment.Acetylation and deacetylation of Cdc25A constitutes a novel mechanism for modulating Cdc25A functions with implications for cancer.Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation DeficiencyN-terminal acetylation promotes synaptonemal complex assembly in C. elegans.Proteomic and genomic characterization of a yeast model for Ogden syndrome.Lessons learned from additional research analyses of unsolved clinical exome cases.Developmental roles of protein N-terminal acetylation.SILProNAQ: A Convenient Approach for Proteome-Wide Analysis of Protein N-Termini and N-Terminal Acetylation Quantitation.Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test.Structural basis of HypK regulating N-terminal acetylation by the NatA complex.Naa10 in development and disease.Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.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.Investigating the functionality of a ribosome-binding mutant of NAA15 using Saccharomyces cerevisiae.
P2860
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P2860
De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females
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2015 nî lūn-bûn
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2015 թուականի Մայիսին հրատարակուած գիտական յօդուած
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2015 թվականի մայիսին հրատարակված գիտական հոդված
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2015年の論文
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2015年論文
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2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
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name
De novo missense mutations in ...... tal delay in males and females
@ast
De novo missense mutations in ...... tal delay in males and females
@en
De novo missense mutations in ...... tal delay in males and females
@nl
type
label
De novo missense mutations in ...... tal delay in males and females
@ast
De novo missense mutations in ...... tal delay in males and females
@en
De novo missense mutations in ...... tal delay in males and females
@nl
prefLabel
De novo missense mutations in ...... tal delay in males and females
@ast
De novo missense mutations in ...... tal delay in males and females
@en
De novo missense mutations in ...... tal delay in males and females
@nl
P2093
P2860
P50
P3181
P356
P1476
De novo missense mutations in ...... tal delay in males and females
@en
P2093
Bernt Popp
Line M Myklebust
Silvia Azzarello-Burri
P2860
P2888
P3181
P356
10.1038/EJHG.2014.150
P407
P577
2015-05-01T00:00:00Z
P5875
P6179
1010234479