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Truncated profibrillin of a Marfan patient is of apparent similar size as fibrillin: intracellular retention leads to over-N-glycosylation.
Raghunath M, Kielty CM, Steinmann B. Raghunath M, et al. Among authors: kielty cm. J Mol Biol. 1995 May 19;248(5):901-9. doi: 10.1006/jmbi.1995.0270. J Mol Biol. 1995. PMID: 7760331
A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome.
Milewicz DM, Grossfield J, Cao SN, Kielty C, Covitz W, Jewett T. Milewicz DM, et al. J Clin Invest. 1995 May;95(5):2373-8. doi: 10.1172/JCI117930. J Clin Invest. 1995. PMID: 7738200 Free PMC article.
A point mutation creating an extra N-glycosylation site in fibrillin-1 results in neonatal Marfan syndrome.
Lönnqvist L, Karttunen L, Rantamäki T, Kielty C, Raghunath M, Peltonen L. Lönnqvist L, et al. Genomics. 1996 Sep 15;36(3):468-75. doi: 10.1006/geno.1996.0492. Genomics. 1996. PMID: 8884270
Fibrillin-rich microfibrils: elastic biopolymers of the extracellular matrix.
Kielty CM, Wess TJ, Haston L, Ashworth JL, Sherratt MJ, Shuttleworth CA. Kielty CM, et al. J Muscle Res Cell Motil. 2002;23(5-6):581-96. J Muscle Res Cell Motil. 2002. PMID: 12785107 Review.
Mutation of the gene encoding fibrillin-2 results in syndactyly in mice.
Chaudhry SS, Gazzard J, Baldock C, Dixon J, Rock MJ, Skinner GC, Steel KP, Kielty CM, Dixon MJ. Chaudhry SS, et al. Among authors: kielty cm. Hum Mol Genet. 2001 Apr 1;10(8):835-43. doi: 10.1093/hmg/10.8.835. Hum Mol Genet. 2001. PMID: 11285249
The supramolecular organization of fibrillin-rich microfibrils.
Baldock C, Koster AJ, Ziese U, Rock MJ, Sherratt MJ, Kadler KE, Shuttleworth CA, Kielty CM. Baldock C, et al. Among authors: kielty cm. J Cell Biol. 2001 Mar 5;152(5):1045-56. doi: 10.1083/jcb.152.5.1045. J Cell Biol. 2001. PMID: 11238459 Free PMC article.
Regulation of fibrillin carboxy-terminal furin processing by N-glycosylation, and association of amino- and carboxy-terminal sequences.
Ashworth JL, Kelly V, Rock MJ, Shuttleworth CA, Kielty CM. Ashworth JL, et al. Among authors: kielty cm. J Cell Sci. 1999 Nov;112 ( Pt 22):4163-71. J Cell Sci. 1999. PMID: 10547375
Fibrillin assembly: dimer formation mediated by amino-terminal sequences.
Ashworth JL, Kelly V, Wilson R, Shuttleworth CA, Kielty CM. Ashworth JL, et al. Among authors: kielty cm. J Cell Sci. 1999 Oct;112 ( Pt 20):3549-58. J Cell Sci. 1999. PMID: 10504303
X-Ray diffraction studies of fibrillin-rich microfibrils: effects of tissue extension on axial and lateral packing.
Wess TJ, Purslow PP, Kielty CM. Wess TJ, et al. Among authors: kielty cm. J Struct Biol. 1998;122(1-2):123-7. doi: 10.1006/jsbi.1998.3992. J Struct Biol. 1998. PMID: 9724613
Calcium determines the supramolecular organization of fibrillin-rich microfibrils.
Wess TJ, Purslow PP, Sherratt MJ, Ashworth J, Shuttleworth CA, Kielty CM. Wess TJ, et al. Among authors: kielty cm. J Cell Biol. 1998 May 4;141(3):829-37. doi: 10.1083/jcb.141.3.829. J Cell Biol. 1998. PMID: 9566980 Free PMC article.
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