Literature DB >> 25795730

Detecting collagen VI in Bethlem myopathy.

Patrizia Sabatelli1, Francesca Gualandi2, Paolo Bonaldo3, Luciano Merlini4.   

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Year:  2015        PMID: 25795730      PMCID: PMC4367299          DOI: 10.1074/jbc.L115.639088

Source DB:  PubMed          Journal:  J Biol Chem        ISSN: 0021-9258            Impact factor:   5.157


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  5 in total

1.  A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations.

Authors:  C Jimenez-Mallebrera; M A Maioli; J Kim; S C Brown; L Feng; A K Lampe; K Bushby; D Hicks; K M Flanigan; C Bonnemann; C A Sewry; F Muntoni
Journal:  Neuromuscul Disord       Date:  2006-08-28       Impact factor: 4.296

2.  Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant.

Authors:  Rui-Zhu Zhang; Yaqun Zou; Te-Cheng Pan; Dessislava Markova; Andrzej Fertala; Ying Hu; Stefano Squarzoni; Umbertina Conti Reed; Suely K N Marie; Carsten G Bönnemann; Mon-Li Chu
Journal:  J Biol Chem       Date:  2010-01-27       Impact factor: 5.157

3.  Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain.

Authors:  Laura K Zamurs; Miguel A Idoate; Eric Hanssen; Asier Gomez-Ibañez; Pau Pastor; Shireen R Lamandé
Journal:  J Biol Chem       Date:  2014-12-22       Impact factor: 5.157

4.  Influence of pH on extracellular matrix preservation during lung decellularization.

Authors:  Tomoshi Tsuchiya; Jenna L Balestrini; Julio Mendez; Elizabeth A Calle; Liping Zhao; Laura E Niklason
Journal:  Tissue Eng Part C Methods       Date:  2014-06-03       Impact factor: 3.056

5.  Autosomal recessive myosclerosis myopathy is a collagen VI disorder.

Authors:  L Merlini; E Martoni; P Grumati; P Sabatelli; S Squarzoni; A Urciuolo; A Ferlini; F Gualandi; P Bonaldo
Journal:  Neurology       Date:  2008-10-14       Impact factor: 9.910

  5 in total
  2 in total

1.  Reply to Sabatelli et al.: Detecting collagen VI in Bethlem myopathy.

Authors:  Shireen R Lamande
Journal:  J Biol Chem       Date:  2015-03-20       Impact factor: 5.157

2.  Authentication of collagen VI antibodies.

Authors:  Jamie Endicott; Paul Holden; Jamie Fitzgerald
Journal:  BMC Res Notes       Date:  2017-07-29
  2 in total

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