CANT1 deficiency in a mouse model of Desbuquois dysplasia impairs glycosaminoglycan synthesis and chondrocyte differentiation in growth plate cartilage

CANT1 deficiency in a mouse model of Desbuquois dysplasia impairs glycosaminoglycan synthesis and chondrocyte differentiation in growth plate cartilage

Desbuquois dysplasia (DD) type 1 is a rare skeletal dysplasia characterized by a short stature, round face, progressive scoliosis, and joint laxity. The causative gene has been identified as calcium‐activated nucleotidase 1 (CANT1), which encodes a nucleotidase that preferentially hydrolyzes UDP to...

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Bibliographic Details
Main Authors: Kazuki Kodama, Hiroaki Takahashi, Nobuyasu Oiji, Kenta Nakano, Tadashi Okamura, Kimie Niimi, Eiki Takahashi, Long Guo, Shiro Ikegawa, Tatsuya Furuichi
Format: Article
Language:English
Published: Wiley 2020-06-01
Series:FEBS Open Bio
Subjects:
CANT1
chondrocyte
Desbuquois dysplasia
extracellular matrix
genome editing
glycosaminoglycan
Online Access:https://doi.org/10.1002/2211-5463.12859

Internet

https://doi.org/10.1002/2211-5463.12859

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