M. Clinical manifestations associated with the N-terminal-acetyltransferase NAA10 gene mutation in a girl: Ogden syndrome. Pediatr. Neurol. 76, 82-85 (2017).Sidhu, M., Brady, L., Tarnopolsky, M., and Ronen, G.M. (2017). Clinical manifestations associated with the N-terminal-acetyl- ...
(MIM 303600); depending on the severity of the mutation in the RSK2 gene, females either have only minor manifestations or develop the full phenotype with facial dysmorphism, tapering fingers and skeletal deformities.53,54 Although the inherited p.(Ser37Pro) variant lies close to the N-...
re ceptor UNC5B as Naa10's downstream targets, and their negative regulation may involves in regulation of both vasculogenesis and cell growth, the multifunction of Naa10 can help us better explain the variety of clinical manifestations and early death of Naa10 gene mutation induced Ogden ...
4E). When FIH was silenced, the target gene expressions were enhanced due to the blockade of HIF-1α N803 hydroxylation. However, they were no more regulated by NAA10 knockdown because NAA10 was not capable of acetylating HIF-1α without FIH. Under hypoxia, the target genes were highly ...
De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and femalesHUMAN missense mutationDEVELOPMENTAL delayACETYLTRANSFERASESX-linked intellectual disabilitiesHUMAN genetic variationMUSCLE dysmorphiaGENETICSRecent studies revealed the power of whole-exome sequencing ...
In this study, we aim to find the disease-causing gene for this condition. Using exome sequencing in a family with three affected brothers, we identified a mutation in the intron 7 splice donor site (c.471+2T鈫扐) of the N-acetyltransferase NAA10 gene. NAA10 has been previously shown ...
1c). The mutation of the present patient is a frameshift mutation that is identical to that of a boy reported by Cheng3. We presumed that he survived because the mutation is in a region where nonsense-mediated degradation does not occur. However, our patient did not show microphthalmia/...
Moreover, the coIP experiment demonstrated that A1P mutation greatly enhanced the interaction of Pgc1α and Pparγ (Figure 6J, compare lane 6 to 5). Collectively, these results show that Naa10p-mediated Pgc1α N-terminal acetylation inhibits thermogenic gene expression likely through compromising ...
the first human genetic disorder caused by a mutation in a NAT gene was reported; boys diagnosed with the X-linked Ogden syndrome harbor a p.Ser37Pro (S37P) mutation in the gene encoding Naa10, the catalytic subunit of the NatA complex, and suffer from global developmental delays and letha...