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Regulation of purine metabolism connects KCTD13 to a metabolic disorder with autistic features
Genetic variation of the 16p11.2 deletion locus containing the KCTD13 gene and of CUL3 is linked with autism. This genetic connection suggested that substrates of a CUL3-KCTD13 ubiquitin ligase may be involved in disease pathogenesis. Comparison of Kctd13 mutant (Kctd13(−/−)) and wild-type neuronal...
Autores principales: | Madison, Jon M., Duong, Karen, Vieux, Ellen F., Udeshi, Namrata D., Iqbal, Sumaiya, Requadt, Elise, Fereshetian, Shaunt, Lewis, Michael C., Gomes, Antonio S., Pierce, Kerry A., Platt, Randall J., Zhang, Feng, Campbell, Arthur J., Lal, Dennis, Wagner, Florence F., Clish, Clary B., Carr, Steven A., Sheng, Morgan, Scolnick, Edward M., Cottrell, Jeffrey R. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7773955/ https://www.ncbi.nlm.nih.gov/pubmed/33409479 http://dx.doi.org/10.1016/j.isci.2020.101935 |
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