FASEB J. 2000 Apr;14(5):761-8.

A Bethlem myopathy Gly to Glu mutation in the von Willebrand factor A domain N2 of the collagen alpha3(VI) chain interferes with protein folding.

Sasaki T, Hohenester E, Zhang RZ, Gotta S, Speer MC, Tandan R, Timpl R, Chu ML.

Source

Max-Planck-Institut für Biochemie, D-82152 Martinsried, Germany.

Abstract

A single G1679E mutation in the amino-terminal globular domain N2 of the alpha3 chain of type VI collagen was found in a large family affected with Bethlem myopathy. Recombinant production of N2 ( approximately 200 residues) in transfected mammalian cells has now been used to examine the possibility that the mutation interfered with protein folding. The wild-type form and a G1679A mutant were produced at high levels and shown to fold into a stable globular structure. Only a small amount of secretion was observed for mutants G1679E and G1679Q, which apparently were efficiently degraded within the cells. Homology modeling onto the related von Willebrand factor A1 structure indicated that substitution of G1679 by the bulky E or Q cannot be accommodated without considerable changes in the folding pattern. This suggests protein misfolding as a molecular basis for this particular mutation in Bethlem myopathy, in agreement with radioimmunoassay data showing reduced levels of domain N2 in cultured fibroblasts from two patients.

PMID:: 10744632; [PubMed - indexed for MEDLINE]

Free full text

Publication Types, MeSH Terms, Substances, Grant Support

LinkOut - more resources

Full Text Sources

Other Literature Sources

COS Scholar Universe

Medical

Supplemental Content

Save items

Related citations in PubMed

Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy. [Hum Mol Genet. 1998]
Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy.
Pan TC, Zhang RZ, Pericak-Vance MA, Tandan R, Fries T, Stajich JM, Viles K, Vance JM, Chu ML, Speer MC. Hum Mol Genet. 1998 May; 7(5):807-12.
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. [J Biol Chem. 2010]
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 LD, Zamurs LK, Beecher N, Baker NL, Peat RA, Adams NE, Bateman JF, North KN, Baldock C, Lamandé SR. J Biol Chem. 2010 Oct 22; 285(43):33567-76. Epub 2010 Aug 21.
Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion. [J Biol Chem. 1999]
Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion.
Lamandé SR, Shields KA, Kornberg AJ, Shield LK, Bateman JF. J Biol Chem. 1999 Jul 30; 274(31):21817-22.
Review Molecular genetics of type 2 von Willebrand disease. [Int J Hematol. 2002]
Review Molecular genetics of type 2 von Willebrand disease.
Fressinaud E, Mazurier C, Meyer D. Int J Hematol. 2002 Jan; 75(1):9-18.
Review Laboratory diagnosis of von Willebrand disease type 1/2E (2A subtype IIE), type 1 Vicenza and mild type 1 caused by mutations in the D3, D4, B1-B3 and C1-C2 domains of the von Willebrand factor gene. Role of von Willebrand factor multimers and the von Willebrand factor propeptide/antigen ratio. [Acta Haematol. 2009]
Review Laboratory diagnosis of von Willebrand disease type 1/2E (2A subtype IIE), type 1 Vicenza and mild type 1 caused by mutations in the D3, D4, B1-B3 and C1-C2 domains of the von Willebrand factor gene. Role of von Willebrand factor multimers and the von Willebrand factor propeptide/antigen ratio.
Gadisseur A, Berneman Z, Schroyens W, Michiels JJ. Acta Haematol. 2009; 121(2-3):128-38. Epub 2009 Jun 8.

See reviews... See all...

Cited by 7 PubMed Central articles

ColVI myopathies: where do we stand, where do we go? [Skelet Muscle. 2011]
ColVI myopathies: where do we stand, where do we go?
Allamand V, Briñas L, Richard P, Stojkovic T, Quijano-Roy S, Bonne G. Skelet Muscle. 2011 Sep 23; 1:30. Epub 2011 Sep 23.
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. [J Biol Chem. 2010]
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 LD, Zamurs LK, Beecher N, Baker NL, Peat RA, Adams NE, Bateman JF, North KN, Baldock C, Lamandé SR. J Biol Chem. 2010 Oct 22; 285(43):33567-76. Epub 2010 Aug 21.
Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant. [J Biol Chem. 2010]
Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant.
Zhang RZ, Zou Y, Pan TC, Markova D, Fertala A, Hu Y, Squarzoni S, Reed UC, Marie SK, Bönnemann CG, et al. J Biol Chem. 2010 Mar 26; 285(13):10005-15. Epub 2010 Jan 27.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
Substance (MeSH Keyword)
PubChem chemical substance (submitted) records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.
Cited in Books
NCBI Bookshelf books that cite the current articles.

Recent activity

Clear Turn Off Turn On

A Bethlem myopathy Gly to Glu mutation in the von Willebrand factor A domain N2 ...
A Bethlem myopathy Gly to Glu mutation in the von Willebrand factor A domain N2 of the collagen alpha3(VI) chain interferes with protein folding.
FASEB J. 2000 Apr ;14(5):761-8.

PubMed
The effect of flow on lysis of plasma clots in a plasma environment.
The effect of flow on lysis of plasma clots in a plasma environment.
Thromb Haemost. 2000 Mar ;83(3):469-74.

PubMed
Familial occurrence of carcinoid tumors and association with other malignant neo...
Familial occurrence of carcinoid tumors and association with other malignant neoplasms.
Cancer Epidemiol Biomarkers Prev. 1999 Aug ;8(8):715-9.

PubMed
Carbamazepine reduces dopamine-mediated behavior in chronic neuroleptic-treated ...
Carbamazepine reduces dopamine-mediated behavior in chronic neuroleptic-treated and untreated rats: implications for treatment of tardive dyskinesia and hyperdopaminergic states.
Exp Clin Psychopharmacol. 2000 Feb ;8(1):125-32.

PubMed
Effect of an essential oil-containing antiseptic mouthrinse on plaque and saliva...
Effect of an essential oil-containing antiseptic mouthrinse on plaque and salivary Streptococcus mutans levels.
J Clin Periodontol. 2000 Mar ;27(3):157-61.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to:

A Bethlem myopathy Gly to Glu mutation in the von Willebrand factor A domain N2 of the collagen alpha3(VI) chain interferes with protein folding.

Source

Abstract

Publication Types, MeSH Terms, Substances, Grant Support

Publication Types

MeSH Terms

Substances

Grant Support

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical

Supplemental Content

Save items

Related citations in PubMed

Cited by 7 PubMed Central articles

Related information

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information