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Article

De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features.

Journal of medical genetics - 1 Mar 2021

Buratti Julien, Ji Lei, Keren Boris, Lee Youngha, Booke Stephanie, Erdin Serkan, Kim Soo Yeon, Palculict Timothy Blake, Meiner Vardiella, Chae Jong Hee, Woods Christopher Geoffrey, Tam Allison, Héron Delphine, Cong Feng, Harel Tamar

Abstract excerpt

BACKGROUND: Ubiquitination has a central role in numerous biological processes, including cell development, stress responses and ageing. Perturbed ubiquitination has been implicated in human diseases ranging from cancer to neurodegenerative diseases. SIAH1 encodes a RING-type E3 ubiquitin ligase involved in protein ubiquitination. Among numerous other roles, SIAH1 regulates metabotropic glutamate receptor...

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PMID: 32430360
DOI: 10.1136/jmedgenet-2019-106335

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