Regulation of purine metabolism connects KCTD13 to a metabolic disorder with autistic features

Regulation of purine metabolism connects KCTD13 to a metabolic disorder with autistic features

Summary: 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 ne...

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Bibliographic Details
Main Authors: Jon M. Madison, Karen Duong, Ellen F. Vieux, Namrata D. Udeshi, Sumaiya Iqbal, Elise Requadt, Shaunt Fereshetian, Michael C. Lewis, Antonio S. Gomes, Kerry A. Pierce, Randall J. Platt, Feng Zhang, Arthur J. Campbell, Dennis Lal, Florence F. Wagner, Clary B. Clish, Steven A. Carr, Morgan Sheng, Edward M. Scolnick, Jeffrey R. Cottrell
Format: Article
Language:English
Published: Elsevier 2021-01-01
Series:iScience
Subjects:
Molecular Neuroscience
Proteomics
Metabolomics
Online Access:http://www.sciencedirect.com/science/article/pii/S2589004220311329

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http://www.sciencedirect.com/science/article/pii/S2589004220311329

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