Literature DB >> 22183385

Modeling the structural consequences of BEST1 missense mutations.

Karina E Guziewicz1, Gustavo D Aguirre, Barbara Zangerl.   

Abstract

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Year:  2012        PMID： 22183385      PMCID： PMC3951900          DOI： 10.1007/978-1-4614-0631-0_78

Source DB:  PubMed          Journal:  Adv Exp Med Biol        ISSN： 0065-2598            Impact factor:   2.622


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  19 in total

1.  In silico prediction of the structure of membrane proteins: is it feasible?

Authors:  Rita Casadio; Piero Fariselli; Pier Luigi Martelli
Journal:  Brief Bioinform       Date:  2003-12       Impact factor: 11.622

Review 2.  Disease-related misassembly of membrane proteins.

Authors:  Charles R Sanders; Jeffrey K Myers
Journal:  Annu Rev Biophys Biomol Struct       Date:  2004

3.  Insertion and topology of normal and mutant bestrophin-1 in the endoplasmic reticulum membrane.

Authors:  Vladimir M Milenkovic; Andrea Rivera; Franziska Horling; Bernhard H F Weber
Journal:  J Biol Chem       Date:  2006-11-15       Impact factor: 5.157

4.  Molecular consequences of BEST1 gene mutations in canine multifocal retinopathy predict functional implications for human bestrophinopathies.

Authors:  Karina E Guziewicz; Julianna Slavik; Sarah J P Lindauer; Gustavo D Aguirre; Barbara Zangerl
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-06-23       Impact factor: 4.799

5.  SOSUI: classification and secondary structure prediction system for membrane proteins.

Authors:  T Hirokawa; S Boon-Chieng; S Mitaku
Journal:  Bioinformatics       Date:  1998       Impact factor: 6.937

6.  The vitelliform macular dystrophy protein defines a new family of chloride channels.

Authors:  Hui Sun; Takashi Tsunenari; King-Wai Yau; Jeremy Nathans
Journal:  Proc Natl Acad Sci U S A       Date:  2002-03-19       Impact factor: 11.205

Review 7.  Identifying nonpolar transbilayer helices in amino acid sequences of membrane proteins.

Authors:  D M Engelman; T A Steitz; A Goldman
Journal:  Annu Rev Biophys Biophys Chem       Date:  1986

8.  TopPred II: an improved software for membrane protein structure predictions.

Authors:  M G Claros; G von Heijne
Journal:  Comput Appl Biosci       Date:  1994-12

9.  Allelic variation in the VMD2 gene in best disease and age-related macular degeneration.

Authors:  A J Lotery; F L Munier; G A Fishman; R G Weleber; S G Jacobson; L M Affatigato; B E Nichols; D F Schorderet; V C Sheffield; E M Stone
Journal:  Invest Ophthalmol Vis Sci       Date:  2000-05       Impact factor: 4.799

10.  Structure-function analysis of the bestrophin family of anion channels.

Authors:  Takashi Tsunenari; Hui Sun; John Williams; Hugh Cahill; Philip Smallwood; King-Wai Yau; Jeremy Nathans
Journal:  J Biol Chem       Date:  2003-08-07       Impact factor: 5.157
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  3 in total

Review 1.  Bestrophin 1 and retinal disease.

Authors:  Adiv A Johnson; Karina E Guziewicz; C Justin Lee; Ravi C Kalathur; Jose S Pulido; Lihua Y Marmorstein; Alan D Marmorstein
Journal:  Prog Retin Eye Res       Date:  2017-01-30       Impact factor: 21.198

Review 2.  Bestrophinopathy: An RPE-photoreceptor interface disease.

Authors:  Karina E Guziewicz; Divya Sinha; Néstor M Gómez; Kathryn Zorych; Emily V Dutrow; Anuradha Dhingra; Robert F Mullins; Edwin M Stone; David M Gamm; Kathleen Boesze-Battaglia; Gustavo D Aguirre
Journal:  Prog Retin Eye Res       Date:  2017-01-19       Impact factor: 21.198

3.  Recombinant AAV-mediated BEST1 transfer to the retinal pigment epithelium: analysis of serotype-dependent retinal effects.

Authors:  Karina E Guziewicz; Barbara Zangerl; András M Komáromy; Simone Iwabe; Vincent A Chiodo; Sanford L Boye; William W Hauswirth; William A Beltran; Gustavo D Aguirre
Journal:  PLoS One       Date:  2013-10-15       Impact factor: 3.240
  3 in total

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