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...

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Detalles Bibliográficos
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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Article
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

Internet

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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