Literature DB >> 19587450

"IF-pathies": a broad spectrum of intermediate filament-associated diseases.

M Bishr Omary1.   

Abstract

Intermediate filaments (IFs) are encoded by the largest gene family among the three major cytoskeletal protein groups. Unique IF compliments are expressed in selective cell types, and this expression is reflected in their involvement, upon mutation, as a cause of or predisposition to more than 80 human tissue-specific diseases. This Review Series covers diseases and functional and structural aspects pertaining to IFs and highlights the molecular and functional consequences of IF-associated diseases (IF-pathies). Exciting challenges and opportunities face the IF field, including developing both a better understanding of the pathogenesis of IF-pathies and targeted therapeutic approaches.

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Year:  2009        PMID: 19587450      PMCID: PMC2701889          DOI: 10.1172/JCI39894

Source DB:  PubMed          Journal:  J Clin Invest        ISSN: 0021-9738            Impact factor:   14.808


  70 in total

Review 1.  'Hard' and 'soft' principles defining the structure, function and regulation of keratin intermediate filaments.

Authors:  Pierre A Coulombe; M Bishr Omary
Journal:  Curr Opin Cell Biol       Date:  2002-02       Impact factor: 8.382

2.  Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities.

Authors:  J M Bonifas; A L Rothman; E H Epstein
Journal:  Science       Date:  1991-11-22       Impact factor: 47.728

3.  Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses.

Authors:  P A Coulombe; M E Hutton; A Letai; A Hebert; A S Paller; E Fuchs
Journal:  Cell       Date:  1991-09-20       Impact factor: 41.582

Review 4.  Astrocyte intermediate filaments in CNS pathologies and regeneration.

Authors:  Milos Pekny; Marcela Pekna
Journal:  J Pathol       Date:  2004-11       Impact factor: 7.996

5.  A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis.

Authors:  François Gros-Louis; Roxanne Larivière; Geneviève Gowing; Sandra Laurent; William Camu; Jean-Pierre Bouchard; Vincent Meininger; Guy A Rouleau; Jean-Pierre Julien
Journal:  J Biol Chem       Date:  2004-08-17       Impact factor: 5.157

6.  Organ-specific stress induces mouse pancreatic keratin overexpression in association with NF-kappaB activation.

Authors:  Bihui Zhong; Qin Zhou; Diana M Toivola; Guo-Zhong Tao; Evelyn Z Resurreccion; M Bishr Omary
Journal:  J Cell Sci       Date:  2004-04-01       Impact factor: 5.285

7.  The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes.

Authors:  J Cheng; A J Syder; Q C Yu; A Letai; A S Paller; E Fuchs
Journal:  Cell       Date:  1992-09-04       Impact factor: 41.582

8.  A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis.

Authors:  C C Chipev; B P Korge; N Markova; S J Bale; J J DiGiovanna; J G Compton; P M Steinert
Journal:  Cell       Date:  1992-09-04       Impact factor: 41.582

9.  A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering.

Authors:  E B Lane; E L Rugg; H Navsaria; I M Leigh; A H Heagerty; A Ishida-Yamamoto; R A Eady
Journal:  Nature       Date:  1992-03-19       Impact factor: 49.962

10.  Genes for intermediate filament proteins and the draft sequence of the human genome: novel keratin genes and a surprisingly high number of pseudogenes related to keratin genes 8 and 18.

Authors:  M Hesse; T M Magin; K Weber
Journal:  J Cell Sci       Date:  2001-07       Impact factor: 5.285

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  72 in total

Review 1.  The role of the ubiquitin proteasome pathway in keratin intermediate filament protein degradation.

Authors:  Micah R Rogel; Ariel Jaitovich; Karen M Ridge
Journal:  Proc Am Thorac Soc       Date:  2010-02

2.  Cell biology to disease and back.

Authors:  M Bishr Omary
Journal:  Nat Rev Mol Cell Biol       Date:  2015-12-02       Impact factor: 94.444

Review 3.  Intermediate Filaments Play a Pivotal Role in Regulating Cell Architecture and Function.

Authors:  Jason Lowery; Edward R Kuczmarski; Harald Herrmann; Robert D Goldman
Journal:  J Biol Chem       Date:  2015-05-08       Impact factor: 5.157

4.  Keratins significantly contribute to cell stiffness and impact invasive behavior.

Authors:  Kristin Seltmann; Anatol W Fritsch; Josef A Käs; Thomas M Magin
Journal:  Proc Natl Acad Sci U S A       Date:  2013-10-28       Impact factor: 11.205

Review 5.  Extending the knowledge in histochemistry and cell biology.

Authors:  Wolfgang-Moritz Heupel; Detlev Drenckhahn
Journal:  Histochem Cell Biol       Date:  2009-11-28       Impact factor: 4.304

6.  Atomic structure of the vimentin central α-helical domain and its implications for intermediate filament assembly.

Authors:  Anastasia A Chernyatina; Stefan Nicolet; Ueli Aebi; Harald Herrmann; Sergei V Strelkov
Journal:  Proc Natl Acad Sci U S A       Date:  2012-08-06       Impact factor: 11.205

Review 7.  Post-translational modifications of intermediate filament proteins: mechanisms and functions.

Authors:  Natasha T Snider; M Bishr Omary
Journal:  Nat Rev Mol Cell Biol       Date:  2014-03       Impact factor: 94.444

Review 8.  Lamins and Lamin-Associated Proteins in Gastrointestinal Health and Disease.

Authors:  Graham F Brady; Raymond Kwan; Juliana Bragazzi Cunha; Jared S Elenbaas; M Bishr Omary
Journal:  Gastroenterology       Date:  2018-03-13       Impact factor: 22.682

9.  Nuclear lamina genetic variants, including a truncated LAP2, in twins and siblings with nonalcoholic fatty liver disease.

Authors:  Graham F Brady; Raymond Kwan; Peter J Ulintz; Phirum Nguyen; Shirin Bassirian; Venkatesha Basrur; Alexey I Nesvizhskii; Rohit Loomba; M Bishr Omary
Journal:  Hepatology       Date:  2018-03-24       Impact factor: 17.425

10.  Characterization of in vivo keratin 19 phosphorylation on tyrosine-391.

Authors:  Qin Zhou; Natasha T Snider; Jian Liao; Daniel H Li; Anita Hong; Nam-On Ku; Christine A Cartwright; M Bishr Omary
Journal:  PLoS One       Date:  2010-10-25       Impact factor: 3.240

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