Distinct functional consequences of ECEL1/DINE missense mutations in the pathogenesis of congenital contracture disorders

Distinct functional consequences of ECEL1/DINE missense mutations in the pathogenesis of congenital contracture disorders

Abstract Endothelin-converting enzyme-like 1 (ECEL1, also termed DINE in rodents), a membrane-bound metalloprotease, has been identified as a gene responsible for distal arthrogryposis (DA). ECEL1-mutated DA is generally characterized by ocular phenotypes in addition to the congenital limb contractu...

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Bibliographic Details
Main Authors: Kenichi Nagata, Mika Takahashi, Sumiko Kiryu-Seo, Hiroshi Kiyama, Takaomi C. Saido
Format: Article
Language:English
Published: BMC 2017-11-01
Series:Acta Neuropathologica Communications
Subjects:
Distal arthrogryposis
ECEL1
DINE
Motor nerve
Axon guidance
Neuromuscular junction
Online Access:http://link.springer.com/article/10.1186/s40478-017-0486-9

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http://link.springer.com/article/10.1186/s40478-017-0486-9

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