Mechanisms of congenital heart disease caused by NAA15 haploinsufficiency
Rationale: NAA15 (N-alpha-acetyltransferase 15) is a component of the NatA (N-terminal
acetyltransferase complex). The mechanism by which NAA15 haploinsufficiency causes …
acetyltransferase complex). The mechanism by which NAA15 haploinsufficiency causes …
A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy
SI Støve, M Blenski, A Stray-Pedersen… - European Journal of …, 2018 - nature.com
Abstract The NAA10-NAA15 complex (NatA) is an N-terminal acetyltransferase that
catalyzes N-terminal acetylation of~ 40% of all human proteins. N-terminal acetylation has …
catalyzes N-terminal acetylation of~ 40% of all human proteins. N-terminal acetylation has …
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
I Bader, N McTiernan, C Darbakk, E Boltshauser… - BMC medical …, 2020 - Springer
Background NAA10 is the catalytic subunit of the major N-terminal acetyltransferase
complex NatA which acetylates almost half the human proteome. Over the past decade …
complex NatA which acetylates almost half the human proteome. Over the past decade …
NAA10 variant in 38-week-gestation male patient: a case study
A Afrin, JW Prokop, A Underwood… - Molecular …, 2020 - molecularcasestudies.cshlp.org
We present a male patient born at 38-wk gestation with rhizomelic shortening of extremities,
hepatomegaly, ventriculomegaly, heart failure, severely depressed left ventricular function …
hepatomegaly, ventriculomegaly, heart failure, severely depressed left ventricular function …
Truncating variants in NAA15 are associated with variable levels of intellectual disability, autism spectrum disorder, and congenital anomalies
N-alpha-acetylation is a common co-translational protein modification that is essential for
normal cell function in humans. We previously identified the genetic basis of an X-linked …
normal cell function in humans. We previously identified the genetic basis of an X-linked …
Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation
N McTiernan, L Tranebjærg, AS Bjørheim, JS Hogue… - Human Genetics, 2022 - Springer
NAA10 is the catalytic subunit of the N-terminal acetyltransferase complex, NatA, which is
responsible for N-terminal acetylation of nearly half the human proteome. Since 2011, at …
responsible for N-terminal acetylation of nearly half the human proteome. Since 2011, at …
The biological functions of Naa10—from amino-terminal acetylation to human disease
MJ Dörfel, GJ Lyon - Gene, 2015 - Elsevier
N-terminal acetylation (NTA) is one of the most abundant protein modifications known, and
the N-terminal acetyltransferase (NAT) machinery is conserved throughout all Eukarya. Over …
the N-terminal acetyltransferase (NAT) machinery is conserved throughout all Eukarya. Over …
Novel biallelic variants expand the phenotype of NAA20‐related syndrome
G D'Onofrio, C Cuccurullo, SK Larsen… - Clinical …, 2023 - Wiley Online Library
NAA20 is the catalytic subunit of the NatB complex, which is responsible for N‐terminal
acetylation of approximately 20% of the human proteome. Recently, pathogenic biallelic …
acetylation of approximately 20% of the human proteome. Recently, pathogenic biallelic …
Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome
GJ Lyon, M Vedaie, T Beisheim, A Park… - European Journal of …, 2023 - nature.com
Abstract Amino-terminal (Nt-) acetylation (NTA) is a common protein modification, affecting
80% of cytosolic proteins in humans. The human essential gene, NAA10, encodes for the …
80% of cytosolic proteins in humans. The human essential gene, NAA10, encodes for the …
Novel roles of GATA4/6 in the postnatal heart identified through temporally controlled, cardiomyocyte-specific gene inactivation by adeno-associated virus delivery of …
GATA4 and GATA6 are central cardiac transcriptional regulators. The postnatal, stage-
specific function of the cardiac transcription factors GATA4 and GATA6 have not been …
specific function of the cardiac transcription factors GATA4 and GATA6 have not been …