Literature DB >> 9330890

Desmin-related myopathies.

H H Goebel1.   

Abstract

Desmin-related myopathies are marked by accumulation of desmin, which is often familial and associated with cardiomyopathy. When multifocal this excess is characterized by inclusions such as cytoplasmic or spheroid bodies, when disseminated the excess is called granulofilamentous material. Excess of desmin might represent an abnormal type of protein metabolism.

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Year:  1997        PMID： 9330890     DOI： 10.1097/00019052-199710000-00012

Source DB:  PubMed          Journal:  Curr Opin Neurol        ISSN： 1350-7540            Impact factor:   5.710


  11 in total

Review 1.  Stress-response proteins in cardiovascular disease.

Authors:  X Xiao; I J Benjamin
Journal:  Am J Hum Genet       Date:  1999-03       Impact factor: 11.025

2.  Hepatocyte cytokeratins are hyperphosphorylated at multiple sites in human alcoholic hepatitis and in a mallory body mouse model.

Authors:  C Stumptner; M B Omary; P Fickert; H Denk; K Zatloukal
Journal:  Am J Pathol       Date:  2000-01       Impact factor: 4.307

Review 3.  Molecular insights into cardiomyopathies associated with desmin (DES) mutations.

Authors:  Andreas Brodehl; Anna Gaertner-Rommel; Hendrik Milting
Journal:  Biophys Rev       Date:  2018-06-20

4.  A dysfunctional desmin mutation in a patient with severe generalized myopathy.

Authors:  A M Muñoz-Mármol; G Strasser; M Isamat; P A Coulombe; Y Yang; X Roca; E Vela; J L Mate; J Coll; M T Fernández-Figueras; J J Navas-Palacios; A Ariza; E Fuchs
Journal:  Proc Natl Acad Sci U S A       Date:  1998-09-15       Impact factor: 11.205

5.  Autophagic vacuolar pathology in desminopathies.

Authors:  Conrad C Weihl; Stanley Iyadurai; Robert H Baloh; Sara K Pittman; Robert E Schmidt; Glenn Lopate; Alan Pestronk; Matthew B Harms
Journal:  Neuromuscul Disord       Date:  2014-12-12       Impact factor: 4.296

6.  Desmin splice variants causing cardiac and skeletal myopathy.

Authors:  K Y Park; M C Dalakas; H H Goebel; V J Ferrans; C Semino-Mora; S Litvak; K Takeda; L G Goldfarb
Journal:  J Med Genet       Date:  2000-11       Impact factor: 6.318

7.  Cardiovascular Complications of Neuromuscular Disorders.

Authors:  Bhavesh Sachdev; Perry M. Elliott; William J. McKenna
Journal:  Curr Treat Options Cardiovasc Med       Date:  2002-04

8.  Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy.

Authors:  David Hassel; Tillman Dahme; Jeanette Erdmann; Benjamin Meder; Andreas Huge; Monika Stoll; Steffen Just; Alexander Hess; Philipp Ehlermann; Dieter Weichenhan; Matthias Grimmler; Henrike Liptau; Roland Hetzer; Vera Regitz-Zagrosek; Christine Fischer; Peter Nürnberg; Heribert Schunkert; Hugo A Katus; Wolfgang Rottbauer
Journal:  Nat Med       Date:  2009-11-01       Impact factor: 53.440

9.  Distinct muscle imaging patterns in myofibrillar myopathies.

Authors:  D Fischer; R A Kley; K Strach; C Meyer; T Sommer; K Eger; A Rolfs; W Meyer; A Pou; J Pradas; C M Heyer; A Grossmann; A Huebner; W Kress; J Reimann; R Schröder; B Eymard; M Fardeau; B Udd; L Goldfarb; M Vorgerd; M Olivé
Journal:  Neurology       Date:  2008-09-02       Impact factor: 9.910

10.  The NADPH metabolic network regulates human αB-crystallin cardiomyopathy and reductive stress in Drosophila melanogaster.

Authors:  Heng B Xie; Anthony Cammarato; Namakkal S Rajasekaran; Huali Zhang; Jennifer A Suggs; Ho-Chen Lin; Sanford I Bernstein; Ivor J Benjamin; Kent G Golic
Journal:  PLoS Genet       Date:  2013-06-20       Impact factor: 5.917
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