A mouse model for dominant collagen VI disorders Heterozygous Deletion of Col6a3 EXON 16

Te Cheng Pan; Rui Zhu Zhang; Machiko Arita; Sasha Bogdanovich; Sheila M. Adams; Sudheer Kumar Gara; Raimund Wagener; Tejvior S. Khurana; David E. Birk; Mon Li Chu

doi:10.1074/jbc.M114.549311

A mouse model for dominant collagen VI disorders Heterozygous Deletion of Col6a3 EXON 16

Te Cheng Pan, Rui Zhu Zhang, Machiko Arita, Sasha Bogdanovich, Sheila M. Adams, Sudheer Kumar Gara, Raimund Wagener, Tejvior S. Khurana, David E. Birk, Mon Li Chu^*

^*Corresponding author for this work

Medicine, Cardiology Division

Research output: Contribution to journal › Article › peer-review

29 Scopus citations

Abstract

Background: Dominant collagen VI gene mutations cause the severe Ullrich congenital muscular dystrophy (UCMD) and mild Bethlem myopathy. Results: A mutant mouse mimicking the most common molecular defect in dominant UCMD patients was generated and characterized. Conclusion: The mutant mouse displays muscle and connective tissue abnormalities. Significance: The mutant mouse provides an animal model for dominant collagen VI disorders.

Original language	English (US)
Pages (from-to)	10293-10307
Number of pages	15
Journal	Journal of Biological Chemistry
Volume	289
Issue number	15
DOIs	https://doi.org/10.1074/jbc.M114.549311
State	Published - Apr 11 2014

ASJC Scopus subject areas

Molecular Biology
Biochemistry
Cell Biology

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@article{54b574ec41994db3a763042689e1dcc0,

title = "A mouse model for dominant collagen VI disorders Heterozygous Deletion of Col6a3 EXON 16",

abstract = "Background: Dominant collagen VI gene mutations cause the severe Ullrich congenital muscular dystrophy (UCMD) and mild Bethlem myopathy. Results: A mutant mouse mimicking the most common molecular defect in dominant UCMD patients was generated and characterized. Conclusion: The mutant mouse displays muscle and connective tissue abnormalities. Significance: The mutant mouse provides an animal model for dominant collagen VI disorders.",

author = "Pan, {Te Cheng} and Zhang, {Rui Zhu} and Machiko Arita and Sasha Bogdanovich and Adams, {Sheila M.} and Gara, {Sudheer Kumar} and Raimund Wagener and Khurana, {Tejvior S.} and Birk, {David E.} and Chu, {Mon Li}",

year = "2014",

month = apr,

day = "11",

doi = "10.1074/jbc.M114.549311",

language = "English (US)",

volume = "289",

pages = "10293--10307",

journal = "Journal of Biological Chemistry",

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T1 - A mouse model for dominant collagen VI disorders Heterozygous Deletion of Col6a3 EXON 16

AU - Pan, Te Cheng

AU - Zhang, Rui Zhu

AU - Arita, Machiko

AU - Bogdanovich, Sasha

AU - Adams, Sheila M.

AU - Gara, Sudheer Kumar

AU - Wagener, Raimund

AU - Khurana, Tejvior S.

AU - Birk, David E.

AU - Chu, Mon Li

PY - 2014/4/11

Y1 - 2014/4/11

N2 - Background: Dominant collagen VI gene mutations cause the severe Ullrich congenital muscular dystrophy (UCMD) and mild Bethlem myopathy. Results: A mutant mouse mimicking the most common molecular defect in dominant UCMD patients was generated and characterized. Conclusion: The mutant mouse displays muscle and connective tissue abnormalities. Significance: The mutant mouse provides an animal model for dominant collagen VI disorders.

AB - Background: Dominant collagen VI gene mutations cause the severe Ullrich congenital muscular dystrophy (UCMD) and mild Bethlem myopathy. Results: A mutant mouse mimicking the most common molecular defect in dominant UCMD patients was generated and characterized. Conclusion: The mutant mouse displays muscle and connective tissue abnormalities. Significance: The mutant mouse provides an animal model for dominant collagen VI disorders.

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DO - 10.1074/jbc.M114.549311

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SP - 10293

EP - 10307

JO - Journal of Biological Chemistry

JF - Journal of Biological Chemistry

IS - 15

ER -

A mouse model for dominant collagen VI disorders Heterozygous Deletion of Col6a3 EXON 16

Abstract

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