| Identification of a novel compound heterozygous SMG9 variants in a Chinese family with heart and brain malformation syndrome using whole exome sequencing. | Identification of a novel compound heterozygous SMG9 variants in a Chinese family with heart and brain malformation syndrome using whole exome sequencing.
Yang Q, Qin Z, Zhang Q, Yi S, Yi S, Luo J., Free PMC Article | 06/18/2022 |
| A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development. | A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development.
Rahikkala E, Urpa L, Ghimire B, Topa H, Kurki MI, Koskela M, Airavaara M, Hämäläinen E, Pylkäs K, Körkkö J, Savolainen H, Suoranta A, Bertoli-Avella A, Rolfs A, Mattila P, Daly M, Palotie A, Pietiläinen O, Moilanen J, Kuismin O., Free PMC Article | 05/21/2022 |
| Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait. | Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait.
Abdel-Salam GMH, Duan R, Abdel-Hamid MS, Sayed ISM, Jhangiani SN, Khan Z, Du H, Gibbs RA, Posey JE, Marafi D, Lupski JR. | 04/16/2022 |
| SMG9 drives ferroptosis by directly inhibiting GPX4 degradation. | SMG9 drives ferroptosis by directly inhibiting GPX4 degradation.
Han L, Bai L, Fang X, Liu J, Kang R, Zhou D, Tang D, Dai E. | 11/22/2021 |
| SMG9-deficiency syndrome caused by a homozygous missense variant: Expanding the genotypic and phenotypic spectrum of this developmental disorder. | SMG9-deficiency syndrome caused by a homozygous missense variant: Expanding the genotypic and phenotypic spectrum of this developmental disorder.
Lemire G, MacDonald SK, Boycott KM. | 05/1/2021 |
| Structure of substrate-bound SMG1-8-9 kinase complex reveals molecular basis for phosphorylation specificity. | Structure of substrate-bound SMG1-8-9 kinase complex reveals molecular basis for phosphorylation specificity.
Langer LM, Gat Y, Bonneau F, Conti E., Free PMC Article | 03/20/2021 |
| Cryo-EM structure of SMG1-SMG8-SMG9 complex. | Cryo-EM structure of SMG1-SMG8-SMG9 complex.
Zhu L, Li L, Qi Y, Yu Z, Xu Y., Free PMC Article | 09/19/2020 |
| This study reports the 3.45-A resolution cryo-EM structure of human SMG1-SMG8-SMG9, a phosphatidylinositol-3-kinase (PI(3)K)-related protein kinase (PIKK) complex central to messenger RNA surveillance. | InsP(6) binding to PIKK kinases revealed by the cryo-EM structure of an SMG1-SMG8-SMG9 complex.
Gat Y, Schuller JM, Lingaraju M, Weyher E, Bonneau F, Strauss M, Murray PJ, Conti E. | 02/29/2020 |
| These results indicated that miR-4651 regulated Nonsense-mediated mRNA decay by targeting SMG9 mRNA. | MicroRNA 4651 regulates nonsense-mediated mRNA decay by targeting SMG9 mRNA.
Tan Y, Ma Z, Jin Y, Zong R, Wu J, Ren Z. | 05/4/2019 |
| Mutations in SMG9 cause a multiple congenital anomaly syndrome in humans and mice | Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice.
Shaheen R, Anazi S, Ben-Omran T, Seidahmed MZ, Caddle LB, Palmer K, Ali R, Alshidi T, Hagos S, Goodwin L, Hashem M, Wakil SM, Abouelhoda M, Colak D, Murray SA, Alkuraya FS., Free PMC Article | 09/3/2016 |
| IQGAP1 protein, an actin cytoskeleton modifier acts as a binding partner with SMG-9 and this binding is regulated by phosphorylation of SMG-9 at Tyr-41. | Role of a tyrosine phosphorylation of SMG-9 in binding of SMG-9 to IQGAP and the NMD complex.
Takeda S, Fujimoto A, Yamauchi E, Hiyoshi M, Kido H, Watanabe T, Kaibuchi K, Ohta T, Konishi H. | 09/3/2011 |