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Article

Ubiquitin ligase RNF146 coordinates bone dynamics and energy metabolism

4 Jun 2017

Abstract excerpt

Cleidocranial dysplasia (CCD) is an autosomal dominant human disorder characterized by abnormal bone development that is mainly due to defective intramembranous bone formation by osteoblasts. Here, we describe a mouse strain lacking the E3 ubiquitin ligase RNF146 that shows phenotypic similarities to CCD. Loss of RNF146 stabilized its substrate AXIN1, leading to impairment of WNT3a-induced β-catenin activation...

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PMID: 28581440
DOI: 10.1172/jci92233

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