Sökning: onr:"swepub:oai:lup.lub.lu.se:b4e64e78-035a-4237-bde4-339243f06988" > Molecular consequen...
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000 | 03912naa a2200517 4500 | |
001 | oai:lup.lub.lu.se:b4e64e78-035a-4237-bde4-339243f06988 | |
003 | SwePub | |
008 | 160401s2007 | |||||||||||000 ||eng| | |
024 | 7 | a https://lup.lub.lu.se/record/9744422 URI |
024 | 7 | a https://doi.org/10.1002/ana.212132 DOI |
040 | a (SwePub)lu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a art2 swepub-publicationtype |
072 | 7 | a ref2 swepub-contenttype |
100 | 1 | a Baker, Naomi L.4 aut |
245 | 1 0 | a Molecular consequences of dominant Bethlem myopathy collagen VI mutations |
264 | c 2007-09-20 | |
264 | 1 | b Wiley,c 2007 |
520 | a Objective: Dominant mutations in the three collagen VI genes cause Bethlem myopathy, a disorder characterized by proximal muscle weakness and commonly contractures of the fingers, wrists, and ankles. Although more than 20 different dominant mutations have been identified in Bethlem myopathy patients, the biosynthetic consequences of only a subset of these have been studied, and in many cases, the pathogenic mechanisms remain unknown. Methods: We have screened fourteen Bethlem myopathy patients for collagen VI mutations and performed detailed analyses of collagen VI biosynthesis and intracellular and extracellular assembly. Results: Collagen VI abnormalities were identified in eight patients. One patient produced around half the normal amount of alpha 1(VI) messenger RNA and reduced amounts of collagen VI protein. Two patients had a previously reported mutation causing skipping of COL6A1 exon 14, and three patients had novel mutations leading to in-frame deletions toward the N-terminal end of the triple-helical domain. These mutations have different and complex effects on collagen VI intracellular and extracellular assembly. Two patients had single amino acid substitutions in the A-domains of COL6A2 and COL6A3. Collagen VI intracellular and extracellular assembly was normal in one of these patients. Interpretation: The key to dissecting the pathogenic mechanisms of collagen VI mutations lies in detailed analysis of collagen VI biosynthesis and assembly. The majority of mutations result in secretion and deposition of structurally abnormal collagen VI. However, one A-domain mutation had no detectable effect on assembly, suggesting that it acts by compromising collagen VI interactions in the extracellular matrix of muscle. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Infektionsmedicin0 (SwePub)302092 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Infectious Medicine0 (SwePub)302092 hsv//eng |
700 | 1 | a Mörgelin, Matthiasu Lund University,Lunds universitet,Infektionsmedicin,Sektion III,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Infection Medicine (BMC),Section III,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)medk-mmn |
700 | 1 | a Pace, Rishika A.4 aut |
700 | 1 | a Peat, Rachel A.4 aut |
700 | 1 | a Adams, Naomi E.4 aut |
700 | 1 | a Gardner, R. J. McKinlay4 aut |
700 | 1 | a Rowland, Lewis P.4 aut |
700 | 1 | a Miller, Geoffrey4 aut |
700 | 1 | a De Jonghe, Peter4 aut |
700 | 1 | a Ceulemans, Berten4 aut |
700 | 1 | a Hannibal, Mark C.4 aut |
700 | 1 | a Edwards, Matthew4 aut |
700 | 1 | a Thompson, Elizabeth M.4 aut |
700 | 1 | a Jacobson, Richard4 aut |
700 | 1 | a Quinlivan, Ros C. M.4 aut |
700 | 1 | a Aftimos, Salim4 aut |
700 | 1 | a Kornberg, Andrew J.4 aut |
700 | 1 | a North, Kathryn N.4 aut |
700 | 1 | a Bateman, John F.4 aut |
700 | 1 | a Lamande, Shireen R.4 aut |
710 | 2 | a Infektionsmedicinb Sektion III4 org |
773 | 0 | t Annals of Neurologyd : Wileyg 62:4, s. 390-405q 62:4<390-405x 1531-8249x 0364-5134 |
856 | 4 | u http://dx.doi.org/10.1002/ana.21213y FULLTEXT |
856 | 4 8 | u https://lup.lub.lu.se/record/974442 |
856 | 4 8 | u https://doi.org/10.1002/ana.21213 |
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