Article

Evaluating possible maternal effect lethality and genetic background effects in <i>Naa10</i> knockout mice

2023-04-27

Abstract excerpt

<h4>ABSTRACT</h4> Amino-terminal (Nt-) acetylation (NTA) is a common protein modification, affecting approximately 80% of all human proteins. The human essential X-linked gene, NAA10, encodes for the enzyme NAA10, which is the catalytic subunit in the N-terminal acetyltransferase A (NatA) complex. There is extensive genetic variation in humans with missense, splice-site, and C-terminal frameshift variants in NA...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: b95c41b8-47db-5d31-b510-b7f037d499e1
DOI: 10.1101/2023.04.27.538618

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Evaluating possible maternal effect lethality and genetic background effects in <i>Naa10</i> knockout miceDOI 10.1101/2023.04.27.538618Read

Evaluating possible maternal effect lethality and genetic background effects in Naa10 knockout mice.Semantic proximity Read

NAA10-related syndromeSemantic proximity Read

Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.Semantic proximity Read

A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy.Semantic proximity Read

Expanding the Phenotypic spectrum of<i>NAA10</i>-related neurodevelopmental syndrome and<i>NAA15</i>-related neurodevelopmental syndromeSemantic proximity Read

Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylationSemantic proximity Read

The biological functions of Naa10 – from amino-terminal acetylation to human diseaseSemantic proximity Read

NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy.Semantic proximity Read

The biological functions of Naa10 — From amino-terminal acetylation to human diseaseSemantic proximity Read

Severe syndromic ID and skewed X-inactivation in a girl with NAA10 dysfunction and a novel heterozygous de novo NAA10 p.(His16Pro) variant - a case report.Semantic proximity Read

Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome.Semantic proximity Read

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15Semantic proximity Read