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Article

NOTCH2 Hajdu-Cheney Mutations Escape SCFFBW7-Dependent Proteolysis to Promote Osteoporosis.

Molecular cell - 16 Nov 2017

Fukushima Hidefumi, Shimizu Kouhei, Watahiki Asami, Hoshikawa Seira, Kosho Tomoki, Oba Daiju, Sakano Seiji, Arakaki Makiko, Yamada Aya, Nagashima Katsuyuki, Okabe Koji, Fukumoto Satoshi, Jimi Eijiro, Bigas Anna, Nakayama Keiichi I, Nakayama Keiko, Aoki Yoko, Wei Wenyi, Inuzuka Hiroyuki

Abstract excerpt

Hajdu-Cheney syndrome (HCS), a rare autosomal disorder caused by heterozygous mutations in NOTCH2, is clinically characterized by acro-osteolysis, severe osteoporosis, short stature, neurological symptoms, cardiovascular defects, and polycystic kidneys. Recent studies identified that aberrant NOTCH2 signaling and consequent osteoclast hyperactivity are closely associated with the bone-related disorder...

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Identifiers

PMID: 29149593
DOI: 10.1016/j.molcel.2017.10.018
PMCID: PMC5730348

Genes

NOTCH2

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