A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly
Abstract Background N-terminal acetylation is a common protein modification in human cells and is catalysed by N-terminal acetyltransferases (NATs), mostly cotranslationally. The NAA10-NAA15 (NatA) protein complex is the major NAT, responsible for acetylating ~ 40% of human proteins. Recently, NAA10...
Saved in:
Main Authors: | Rasmus Ree (Author), Anni Sofie Geithus (Author), Pernille Mathiesen Tørring (Author), Kristina Pilekær Sørensen (Author), Mads Damkjær (Author), DDD study (Author), Sally Ann Lynch (Author), Thomas Arnesen (Author) |
---|---|
Format: | Book |
Published: |
BMC,
2019-06-01T00:00:00Z.
|
Subjects: | |
Online Access: | Connect to this object online. |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
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
by: Ingrid Bader, et al.
Published: (2020) -
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
by: Nina McTiernan, et al.
Published: (2018) -
Human Naa50 Shows Serotonin <i>N</i>-Acetyltransferase Activity, and Its Overexpression Enhances Melatonin Biosynthesis, Resulting in Osmotic Stress Tolerance in Rice
by: Kyungjin Lee, et al.
Published: (2023) -
PEMBELAJARAN AL-NAḤWU TERAPAN (APLIKASI DASAR-DASAR AL-NAḤWU BAGI PEMULA)
by: Usman Husein
Published: (2013) -
Clinical manifestations in a Chinese girl with heterozygous de novo NAA10 variant c. 247C > T, p. (Arg83Cys): a case report
by: Kaiyan Wei, et al.
Published: (2023)