Literature DB >> 15195661

Nuclear factor TDP-43 binds to the polymorphic TG repeats in CFTR intron 8 and causes skipping of exon 9: a functional link with disease penetrance.

Emanuele Buratti, Antonia Brindisi, Franco Pagani, Francisco E Baralle.   

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Year:  2004        PMID： 15195661      PMCID： PMC1182100          DOI： 10.1086/420978

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  8 in total

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2.  Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation.

Authors:  H Cuppens; W Lin; M Jaspers; B Costes; H Teng; A Vankeerberghen; M Jorissen; G Droogmans; I Reynaert; M Goossens; B Nilius; J J Cassiman
Journal:  J Clin Invest       Date:  1998-01-15       Impact factor: 14.808

3.  Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.

Authors:  Joshua D Groman; Timothy W Hefferon; Teresa Casals; Lluís Bassas; Xavier Estivill; Marie Des Georges; Caroline Guittard; Monika Koudova; M Daniele Fallin; Krisztina Nemeth; Gyorgy Fekete; Ludovit Kadasi; Ken Friedman; Martin Schwarz; Cristina Bombieri; Pier Franco Pignatti; Emmanuel Kanavakis; Maria Tzetis; Marianne Schwartz; Giuseppe Novelli; Maria Rosaria D'Apice; Agnieszka Sobczynska-Tomaszewska; Jerzy Bal; Manfred Stuhrmann; Milan Macek; Mireille Claustres; Garry R Cutting
Journal:  Am J Hum Genet       Date:  2003-12-18       Impact factor: 11.025

4.  Expression of an abundant alternatively spliced form of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is not associated with a cAMP-activated chloride conductance.

Authors:  T V Strong; D J Wilkinson; M K Mansoura; D C Devor; K Henze; Y Yang; J M Wilson; J A Cohn; D C Dawson; R A Frizzell
Journal:  Hum Mol Genet       Date:  1993-03       Impact factor: 6.150

5.  Structural diversity and functional implications of the eukaryotic TDP gene family.

Authors:  Hurng-Yi Wang; I-Fan Wang; Jayaramakrishnan Bose; C-K James Shen
Journal:  Genomics       Date:  2004-01       Impact factor: 5.736

6.  Cystic fibrosis transmembrane conductance regulator splice variants are not conserved and fail to produce chloride channels.

Authors:  S J Delaney; D P Rich; S A Thomson; M R Hargrave; P K Lovelock; M J Welsh; B J Wainwright
Journal:  Nat Genet       Date:  1993-08       Impact factor: 38.330

7.  Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9.

Authors:  E Buratti; F E Baralle
Journal:  J Biol Chem       Date:  2001-07-24       Impact factor: 5.157

8.  Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping.

Authors:  E Buratti; T Dörk; E Zuccato; F Pagani; M Romano; F E Baralle
Journal:  EMBO J       Date:  2001-04-02       Impact factor: 11.598
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Review 3.  Gains or losses: molecular mechanisms of TDP43-mediated neurodegeneration.

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Journal:  Nat Rev Neurosci       Date:  2011-11-30       Impact factor: 34.870

Review 4.  TAR DNA-binding protein 43 in neurodegenerative disease.

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Review 5.  Reverse engineering human neurodegenerative disease using pluripotent stem cell technology.

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Review 6.  Influence of RNA secondary structure on the pre-mRNA splicing process.

Authors:  Emanuele Buratti; Francisco E Baralle
Journal:  Mol Cell Biol       Date:  2004-12       Impact factor: 4.272

Review 7.  Splicing in action: assessing disease causing sequence changes.

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Journal:  J Med Genet       Date:  2005-10       Impact factor: 6.318

8.  TDP-43 is a key player in the clinical features associated with Alzheimer's disease.

Authors:  Keith A Josephs; Jennifer L Whitwell; Stephen D Weigand; Melissa E Murray; Nirubol Tosakulwong; Amanda M Liesinger; Leonard Petrucelli; Matthew L Senjem; David S Knopman; Bradley F Boeve; Robert J Ivnik; Glenn E Smith; Clifford R Jack; Joseph E Parisi; Ronald C Petersen; Dennis W Dickson
Journal:  Acta Neuropathol       Date:  2014-03-23       Impact factor: 17.088

9.  RNA-binding ability of FUS regulates neurodegeneration, cytoplasmic mislocalization and incorporation into stress granules associated with FUS carrying ALS-linked mutations.

Authors:  J Gavin Daigle; Nicholas A Lanson; Rebecca B Smith; Ian Casci; Astha Maltare; John Monaghan; Charles D Nichols; Dmitri Kryndushkin; Frank Shewmaker; Udai Bhan Pandey
Journal:  Hum Mol Genet       Date:  2012-12-20       Impact factor: 6.150

Review 10.  Neurodegenerative dementia and parkinsonism.

Authors:  A Gabelle; F Portet; C Berr; J Touchon
Journal:  J Nutr Health Aging       Date:  2010-01       Impact factor: 4.075
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