PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation
Sangwoo T. Han, Andrew C. Kim, Karolyn Garcia, Lisa A. Schimmenti, Ellen F. Macnamara, Undiagnosed Diseases Network, William A. Gahl, May Christine V. Malicdan, Cynthia J. Tifft
Topics & Concepts
Autism spectrum disorderTranslation (biology)PhenotypeDownregulation and upregulationAutismProbandGeneBiologyProtein biosynthesisNeurodevelopmental disorderGeneticsMedicineMessenger RNAMutationPsychiatryBiochemical and Molecular ResearchCytomegalovirus and herpesvirus researchRNA modifications and cancer