(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-...
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 ...
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 ...
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...