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 ...
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 ...
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 ...
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/...
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...
(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-...
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- ...