Literature DB >> 11108952

Fibrillin-1, a calcium binding protein of extracellular matrix.

P A Handford1.   

Abstract

Fibrillin-1 is a large extracellular matrix glycoprotein which assembles to form 10-12 nm microfibrils in extracellular matrix. Mutations in the human fibrillin-1 gene (FBN-1) cause the connective tissue disease Marfan syndrome and related disorders, which are characterised by defects in the skeletal, cardiovascular and ocular systems of the body. Fibrillin-1 has a striking modular organisation which is dominated by multiple tandem repeats of the calcium binding epidermal growth factor-like (cbEGF) domain. This review focuses on recent studies which have investigated the structural and functional role of calcium binding to cbEGF domains in fibrillin-1 and 10-12 nm microfibrils.

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Year:  2000        PMID: 11108952     DOI: 10.1016/s0167-4889(00)00085-9

Source DB:  PubMed          Journal:  Biochim Biophys Acta        ISSN: 0006-3002


  24 in total

1.  Keeping up with calcium: conference on calcium-binding proteins and calcium function in health and disease.

Authors:  Claude B Klee; Anthony R Means
Journal:  EMBO Rep       Date:  2002-09       Impact factor: 8.807

2.  Identification and dissection of Ca(2+)-binding sites in the extracellular domain of Ca(2+)-sensing receptor.

Authors:  Yun Huang; Yubin Zhou; Wei Yang; Robert Butters; Hsiau-Wei Lee; Shunyi Li; Adriana Castiblanco; Edward M Brown; Jenny J Yang
Journal:  J Biol Chem       Date:  2007-05-03       Impact factor: 5.157

3.  ADAMTSL-6 is a novel extracellular matrix protein that binds to fibrillin-1 and promotes fibrillin-1 fibril formation.

Authors:  Ko Tsutsui; Ri-ichiroh Manabe; Tomiko Yamada; Itsuko Nakano; Yasuko Oguri; Douglas R Keene; Gerhard Sengle; Lynn Y Sakai; Kiyotoshi Sekiguchi
Journal:  J Biol Chem       Date:  2009-11-23       Impact factor: 5.157

4.  Variability in gene-based knowledge impacts variant classification: an analysis of FBN1 missense variants in ClinVar.

Authors:  Linnea M Baudhuin; Michelle L Kluge; Katrina E Kotzer; Susan A Lagerstedt
Journal:  Eur J Hum Genet       Date:  2019-06-21       Impact factor: 4.246

5.  Disorder and cysteines in proteins: A design for orchestration of conformational see-saw and modulatory functions.

Authors:  Anukool A Bhopatkar; Vladimir N Uversky; Vijayaraghavan Rangachari
Journal:  Prog Mol Biol Transl Sci       Date:  2020-06-27       Impact factor: 3.622

6.  Tissue stiffness at the human maternal-fetal interface.

Authors:  Yassen Abbas; Alejandro Carnicer-Lombarte; Lucy Gardner; Jake Thomas; Jan J Brosens; Ashley Moffett; Andrew M Sharkey; Kristian Franze; Graham J Burton; Michelle L Oyen
Journal:  Hum Reprod       Date:  2019-10-02       Impact factor: 6.918

7.  A disease-associated mutation in fibrillin-1 differentially regulates integrin-mediated cell adhesion.

Authors:  Joselyn S Del Cid; Nilgun Isik Reed; Kathleen Molnar; Sean Liu; Bobo Dang; Sacha A Jensen; William DeGrado; Penny A Handford; Dean Sheppard; Aparna B Sundaram
Journal:  J Biol Chem       Date:  2019-10-22       Impact factor: 5.157

8.  Dexamethasone Stiffens Trabecular Meshwork, Trabecular Meshwork Cells, and Matrix.

Authors:  Vijay Krishna Raghunathan; Joshua T Morgan; Shin Ae Park; Darren Weber; Brett S Phinney; Christopher J Murphy; Paul Russell
Journal:  Invest Ophthalmol Vis Sci       Date:  2015-07       Impact factor: 4.799

9.  Three intrinsically unstructured mussel adhesive proteins, mfp-1, mfp-2, and mfp-3: analysis by circular dichroism.

Authors:  Dong Soo Hwang; J Herbert Waite
Journal:  Protein Sci       Date:  2012-09-25       Impact factor: 6.725

10.  Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.

Authors:  L Faivre; G Collod-Beroud; B L Loeys; A Child; C Binquet; E Gautier; B Callewaert; E Arbustini; K Mayer; M Arslan-Kirchner; A Kiotsekoglou; P Comeglio; N Marziliano; H C Dietz; D Halliday; C Beroud; C Bonithon-Kopp; M Claustres; C Muti; H Plauchu; P N Robinson; L C Adès; A Biggin; B Benetts; M Brett; K J Holman; J De Backer; P Coucke; U Francke; A De Paepe; G Jondeau; C Boileau
Journal:  Am J Hum Genet       Date:  2007-07-25       Impact factor: 11.025

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