KBG syndrome-associated protein ANKRD11 regulates SETD5 expression to modulate rRNA levels and translation

KBG syndrome-associated protein ANKRD11 regulates SETD5 expression to modulate rRNA levels and translation

Summary: ANKRD11 haploinsufficiency is implicated in KBG syndrome, characterized by intellectual disability, autism spectrum disorders, and skeletal abnormalities. While SETD5 mutations are linked to a distinct clinical disorder, they also appear in KBG-like cases, suggesting shared molecular pathwa...

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Main Authors: Shoko Sashiyama, Tadashi Nakagawa, Makiko Nakagawa, Masaki Hosogane, Yasuaki Watanabe, Honoka Ashitomi, Kazusa Yamane, Norihiro Shibuya, Toshiro Moroishi, Keiko Nakayama, Toru Hosoi
Format: Article
Language:English
Published: Elsevier 2025-06-01
Series:iScience
Subjects:
Molecular biology
Cell biology
Online Access:http://www.sciencedirect.com/science/article/pii/S2589004225009605
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