NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment (Q36237829)

12 August 2017

NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment (English)

1 reference

disability affecting intellectual abilities

12 August 2017

0 references

intellectual disability

1 reference

based on heuristic

inferred from title

1 reference

10

1 reference

12 August 2017

Aimee Dunne

6

0 references

Svein I Støve

object named as

Svein I Støve

2

0 references

Sean Ennis

object named as

Sean Ennis

7

0 references

author name string

Jillian P Casey

1

1 reference

12 August 2017

Catherine McGorrian

3

1 reference

12 August 2017

Joseph Galvin

4

1 reference

12 August 2017

Marina Blenski

5

1 reference

12 August 2017

Francesca Brett

8

1 reference

12 August 2017

Mary D King

9

1 reference

12 August 2017

Sally Ann Lynch

11

1 reference

12 August 2017

language of work or name

English

0 references

publication date

2 November 2015

1 reference

12 August 2017

1 reference

12 August 2017

5

1 reference

12 August 2017

16022

1 reference

Creative Commons Attribution 4.0 International

12 August 2017

start time

2 November 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Molecular, cellular, and physiological significance of N-terminal acetylation.

1 reference

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X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

1 October 2017

1 reference

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Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects

1 October 2017

1 reference

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De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females

1 October 2017

1 reference

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Loss of amino-terminal acetylation suppresses a prion phenotype by modulating global protein folding

1 October 2017

1 reference

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A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome

1 October 2017

1 reference

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A Saccharomyces cerevisiae model reveals in vivo functional impairment of the Ogden syndrome N-terminal acetyltransferase NAA10 Ser37Pro mutant

1 October 2017

1 reference

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Molecular basis for N-terminal acetylation by the heterodimeric NatA complex

1 October 2017

1 reference

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XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing

1 October 2017

1 reference

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Control of protein quality and stoichiometries by N-terminal acetylation and the N-end rule pathway

1 October 2017

1 reference

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Design, synthesis, and kinetic characterization of protein N-terminal acetyltransferase inhibitors

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4629191

Protein N-terminal acetyltransferases in cancer

1 October 2017

1 reference

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N-Terminal Acetylation Acts as an Avidity Enhancer Within an Interconnected Multiprotein Complex

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4629191

Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4629191

N-terminal acetylation inhibits protein targeting to the endoplasmic reticulum

1 October 2017

1 reference

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A framework for variation discovery and genotyping using next-generation DNA sequencing data

1 October 2017

1 reference

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Proteome-derived peptide libraries allow detailed analysis of the substrate specificities of N(alpha)-acetyltransferases and point to hNaa10p as the post-translational actin N(alpha)-acetyltransferase

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4629191

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4629191

N-terminal acetylation of cellular proteins creates specific degradation signals

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4629191

Application of reverse-phase HPLC to quantify oligopeptide acetylation eliminates interference from unspecific acetyl CoA hydrolysis

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4629191

Fast and accurate short read alignment with Burrows-Wheeler transform

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4629191

Proteomics analyses reveal the evolutionary conservation and divergence of N-terminal acetyltransferases from yeast and humans

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4629191

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4629191

PLINK: a tool set for whole-genome association and population-based linkage analyses

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4629191

MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4629191

Characterization of hARD2, a processed hARD1 gene duplicate, encoding a human protein N-alpha-acetyltransferase

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4629191

Identification and characterization of the human ARD1-NATH protein acetyltransferase complex

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4629191

Golgi targeting of ARF-like GTPase Arl3p requires its Nalpha-acetylation and the integral membrane protein Sys1p

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4629191

Targeting of the Arf-like GTPase Arl3p to the Golgi requires N-terminal acetylation and the membrane protein Sys1p

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4629191

Identification and characterization of genes and mutants for an N-terminal acetyltransferase from yeast.

1 October 2017

1 reference

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Regulation of the p300 HAT domain via a novel activation loop.

1 October 2017

1 reference

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Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4629191

Evidence that SIZN1 is a candidate X-linked mental retardation gene.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4629191

Stocco dos Santos X-linked mental retardation syndrome: clinical elucidation and localization to Xp11.3-Xq21.3.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4629191

Acetylation of protein N-terminal amino groups structural observations on α-amino acetylated proteins

22 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26522270

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/SREP16022

1 reference

12 August 2017

1 reference

12 August 2017

PubMed publication ID

26522270

1 reference