Collagen VI Microfibril Formation Is Abolished by an α2(VI) von Willebrand Factor Type A Domain Mutation in a Patient with Ullrich Congenital Muscular Dystrophy-Reference-Cited by-同舟云学术

Collagen VI Microfibril Formation Is Abolished by an α2(VI) von Willebrand Factor Type A Domain Mutation in a Patient with Ullrich Congenital Muscular Dystrophy

Published:2010-10 Issue:43 Volume:285 Page:33567-33576
ISSN:0021-9258
Container-title:Journal of Biological Chemistry
language:en
Short-container-title:Journal of Biological Chemistry

Author:

Tooley Leona D.,Zamurs Laura K.,Beecher Nicola,Baker Naomi L.,Peat Rachel A.,Adams Naomi E.,Bateman John F.,North Kathryn N.,Baldock Clair,Lamandé Shireen R.

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry

Reference45 articles.

1. Three Novel Collagen VI Chains, α4(VI), α5(VI), and α6(VI)

2. Three Novel Collagen VI Chains with High Homology to the α3 Chain

3. Amino acid sequence of the triple-helical domain of human collagen type VI.

4. α1 Chain of Chick Type VI Collagen

5. Sequence analysis of alpha 1(VI) and alpha 2(VI) chains of human type VI collagen reveals internal triplication of globular domains similar to the A domains of von Willebrand factor and two alpha 2(VI) chain variants that differ in the carboxy terminus.

Cited by 17 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The UCMD-Causing COL6A1 ( $c . 930 + 189 C > T$ ) Intron Mutation Leads to the Secretion and Aggregation of Single Mutated Collagen VI α1 Chains;Human Mutation;2023-09-06

2. Collagens and Muscle Diseases: A Focus on Collagen VI;The Collagen Superfamily and Collagenopathies;2021

3. Collagen VIα2 chain deficiency causes trabecular bone loss by potentially promoting osteoclast differentiation through enhanced TNFα signaling;Scientific Reports;2020-08-13

4. Genetic Disorders of the Extracellular Matrix;The Anatomical Record;2019-03-06

5. Collagen VI disorders: Insights on form and function in the extracellular matrix and beyond;Matrix Biology;2018-10