关于Ⅵ型胶原性肌营养不良症的发病机制——评希克斯等人的文章 - Suppr

On the pathogenesis of collagen VI muscular dystrophies--comment on article of Hicks et al.

作者信息

Bernardi Paolo, Bonaldo Paolo, Maraldi Nadir M, Merlini Luciano, Sabatelli Patrizia

出版信息

Brain. 2009 Oct;132(Pt 10):e121; author reply e122. doi: 10.1093/brain/awp021. Epub 2009 Mar 17.

DOI:10.1093/brain/awp021

PMID:19293242

Abstract

摘要

相似文献

On the pathogenesis of collagen VI muscular dystrophies--comment on article of Hicks et al.

Brain. 2009 Oct;132(Pt 10):e121; author reply e122. doi: 10.1093/brain/awp021. Epub 2009 Mar 17.

Muscle interstitial fibroblasts are the main source of collagen VI synthesis in skeletal muscle: implications for congenital muscular dystrophy types Ullrich and Bethlem.

J Neuropathol Exp Neurol. 2008 Feb;67(2):144-54. doi: 10.1097/nen.0b013e3181634ef7.

Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes.

Muscle Nerve. 2008 Sep;38(3):1192-5. doi: 10.1002/mus.21030.

Congenital muscular dystrophies and the extracellular matrix.

Semin Pediatr Neurol. 2006 Jun;13(2):80-9. doi: 10.1016/j.spen.2006.06.003.

Collagen VI status and clinical severity in Ullrich congenital muscular dystrophy: phenotype analysis of 11 families linked to the COL6 loci.

Neuropediatrics. 2004 Apr;35(2):103-12. doi: 10.1055/s-2004-815832.

Inhibition of nonsense-mediated mRNA decay rescues the phenotype in Ullrich's disease.

Ann Neurol. 2004 May;55(5):740-4. doi: 10.1002/ana.20107.

Reduced cell anchorage may cause sarcolemma-specific collagen VI deficiency in Ullrich disease.

Neurology. 2007 Sep 4;69(10):1043-9. doi: 10.1212/01.wnl.0000271386.89878.22.

Variable penetrance of COL6A1 null mutations: implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families.

Neuromuscul Disord. 2007 Jul;17(7):547-57. doi: 10.1016/j.nmd.2007.03.017. Epub 2007 May 29.

Fibronectin receptor reduction in skin and fibroblasts of patients with Ullrich's disease.

Muscle Nerve. 2002 Nov;26(5):696-701. doi: 10.1002/mus.10250.

Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.

Hum Mol Genet. 2005 Jan 15;14(2):279-93. doi: 10.1093/hmg/ddi025. Epub 2004 Nov 24.

引用本文的文献

Mitochondrial dysfunction and defective autophagy in the pathogenesis of collagen VI muscular dystrophies.

Cold Spring Harb Perspect Biol. 2013 May 1;5(5):a011387. doi: 10.1101/cshperspect.a011387.

Critical evaluation of the use of cell cultures for inclusion in clinical trials of patients affected by collagen VI myopathies.

J Cell Physiol. 2012 Jul;227(7):2927-35. doi: 10.1002/jcp.23039.

Autophagy thwarts muscle disease.

Nat Med. 2010 Nov;16(11):1188-90. doi: 10.1038/nm1110-1188.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

On the pathogenesis of collagen VI muscular dystrophies--comment on article of Hicks et al.

作者信息

出版信息

相似文献

引用本文的文献

文献AI研究员

用中文搜PubMed

文档翻译

Suppr 超能文献

相似文献

引用本文的文献