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Sökning: onr:"swepub:oai:lup.lub.lu.se:b4e64e78-035a-4237-bde4-339243f06988" > Molecular consequen...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00003912naa a2200517 4500
001oai:lup.lub.lu.se:b4e64e78-035a-4237-bde4-339243f06988
003SwePub
008160401s2007 | |||||||||||000 ||eng|
024a https://lup.lub.lu.se/record/9744422 URI
024a https://doi.org/10.1002/ana.212132 DOI
040 a (SwePub)lu
041 a engb eng
042 9 SwePub
072 7a art2 swepub-publicationtype
072 7a ref2 swepub-contenttype
100a Baker, Naomi L.4 aut
2451 0a Molecular consequences of dominant Bethlem myopathy collagen VI mutations
264 c 2007-09-20
264 1b 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 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Infektionsmedicin0 (SwePub)302092 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Infectious Medicine0 (SwePub)302092 hsv//eng
700a 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
700a Pace, Rishika A.4 aut
700a Peat, Rachel A.4 aut
700a Adams, Naomi E.4 aut
700a Gardner, R. J. McKinlay4 aut
700a Rowland, Lewis P.4 aut
700a Miller, Geoffrey4 aut
700a De Jonghe, Peter4 aut
700a Ceulemans, Berten4 aut
700a Hannibal, Mark C.4 aut
700a Edwards, Matthew4 aut
700a Thompson, Elizabeth M.4 aut
700a Jacobson, Richard4 aut
700a Quinlivan, Ros C. M.4 aut
700a Aftimos, Salim4 aut
700a Kornberg, Andrew J.4 aut
700a North, Kathryn N.4 aut
700a Bateman, John F.4 aut
700a Lamande, Shireen R.4 aut
710a Infektionsmedicinb Sektion III4 org
773t Annals of Neurologyd : Wileyg 62:4, s. 390-405q 62:4<390-405x 1531-8249x 0364-5134
856u http://dx.doi.org/10.1002/ana.21213y FULLTEXT
8564 8u https://lup.lub.lu.se/record/974442
8564 8u https://doi.org/10.1002/ana.21213

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