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http://hdl.handle.net/2445/172166
Title: | Large HERCs function as tumor suppressors |
Author: | Schneider, Taiane Martinez-Martinez, Arturo Cubillos Rojas, Mónica Bartrons Bach, Ramon Ventura Pujol, Francesc Rosa López, José Luis |
Keywords: | Tumors Proteïnes supressores de tumors Genètica Tumors Tumor suppressor protein Genetics |
Issue Date: | 18-Jun-2019 |
Publisher: | Frontiers Media |
Abstract: | Ubiquitin ligases regulate numerous cellular processes, including tissue homeostasis, cellular metabolism, and cell cycle progression. These enzymes recognize, interact with and ubiquitylate specific substrates. Homologous to the E6-AP carboxyl terminus (HECT) and regulator of chromosome condensation 1 (RCC1)-like domain-containing proteins (HERCs) belong to the family of HECT ubiquitin ligases. There are six human HERCs which can be divided into two subgroups: large HERCs (HERC1-2) and small HERCs (HERC3-6). Alterations in the function of large HERCs are associated with serious pathologies such as neurological disorders. Mutations in human HERC1 have been associated with overgrowth, intellectual disability and some autistic features; while mutations in HERC2 have been identified as the cause of a neurodevelopmental disorder with similarities to Angelman syndrome and autism. |
Note: | Reproducció del document publicat a: https://doi.org/10.3389/fonc.2019.00524 |
It is part of: | Frontiers In Oncology, 2019, vol. 9, p. 524 |
URI: | http://hdl.handle.net/2445/172166 |
Related resource: | https://doi.org/10.3389/fonc.2019.00524 |
ISSN: | 2234-943X |
Appears in Collections: | Articles publicats en revistes (Ciències Fisiològiques) Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
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