A biallelic loss-of-function variant in TMEM147 causes profound intellectual disability and spasticity
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Genetics (clinical),Genetics
Link
https://link.springer.com/content/pdf/10.1007/s10048-023-00734-8.pdf
Reference22 articles.
1. Harripaul R, Noor A, Ayub M, Vincent JB (2017) The use of next-generation sequencing for research and diagnostics for intellectual disability. Cold Spring Harb Perspect Med 7(3). https://doi.org/10.1101/cshperspect.a026864
2. Hu H, Kahrizi K, Musante L, Fattahi Z, Herwig R, Hosseini M, Oppitz C, Abedini SS, Suckow V, Larti F, Beheshtian M (2019) Genetics of intellectual disability in consanguineous families. Mol Psychiatry 24(7):1027–1039. https://doi.org/10.1038/s41380-017-0012-2
3. Reuter MS et al (2017) Diagnostic yield and novel candidate genes by exome sequencing in 152 consanguineous families with neurodevelopmental disorders. JAMA Psychiatry 74(3):293–299. https://doi.org/10.1001/jamapsychiatry.2016.3798
4. Dettmer U, Kuhn PH, Abou-Ajram C et al (2010) Transmembrane protein 147 (TMEM147) is a novel component of the Nicalin-NOMO protein complex. J Biol Chem 285(34):26174–26181. https://doi.org/10.1074/jbc.M110.132548
5. Rosemond E, Rossi M, McMillin SM, Scarselli M, Donaldson JG, Wess J (2011) Regulation of M3 muscarinic receptor expression and function by transmembrane protein 147. Mol Pharmacol 79(2):251–261. https://doi.org/10.1124/mol.110.067363
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