Collagen VI microfibril formation is abolished by an {alpha}2(VI) von Willebrand factor type A domain mutation in a patient with Ullrich congenital muscular dystrophy.

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

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.

Afiliação

Tooley LD; From the Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia; Departments of Paediatrics, Parkville, Victoria 3052, Australia.
Zamurs LK; From the Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia.
Beecher N; Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, University of Manchester, Manchester M13 9PL, United Kingdom.
Baker NL; From the Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia.
Peat RA; Neurogenetics Research Unit, Children's Hospital at Westmead and Discipline of Paediatrics and Child Health, University of Sydney, Westmead, New South Wales 2145, Australia.
Adams NE; From the Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia.
Bateman JF; From the Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia; Biochemistry and Molecular Biology, University of Melbourne, Royal Children's Hospital, Parkville, Victoria 3052, Australia.
North KN; Neurogenetics Research Unit, Children's Hospital at Westmead and Discipline of Paediatrics and Child Health, University of Sydney, Westmead, New South Wales 2145, Australia.
Baldock C; Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, University of Manchester, Manchester M13 9PL, United Kingdom.
Lamandé SR; From the Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia; Departments of Paediatrics, Parkville, Victoria 3052, Australia. Electronic address: shireen.lamande@mcri.edu.au.

J Biol Chem ; 285(43): 33567-33576, 2010 Oct 22.

Article em En | MEDLINE | ID: mdl-20729548

Assuntos

Colágeno Tipo VI/metabolismo; Distrofias Musculares/metabolismo; Mutação; Dobramento de Proteína; Multimerização Proteica; Fator de von Willebrand/metabolismo; Linhagem Celular; Colágeno Tipo VI/genética; Éxons/genética; Matriz Extracelular/genética; Matriz Extracelular/metabolismo; Humanos; Distrofias Musculares/genética; Estrutura Quaternária de Proteína; Estrutura Terciária de Proteína; RNA Mensageiro/genética; RNA Mensageiro/metabolismo; Fator de von Willebrand/genética

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fator de von Willebrand / Dobramento de Proteína / Colágeno Tipo VI / Multimerização Proteica / Distrofias Musculares / Mutação Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2010 Tipo de documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google