Literature DB >> 17099882

Unfolded protein response and aggresome formation in hereditary reducing-body myopathy.

Teerin Liewluck1, Yukiko K Hayashi, Maki Ohsawa, Rumi Kurokawa, Masako Fujita, Satoru Noguchi, Ikuya Nonaka, Ichizo Nishino.   

Abstract

Reducing-body myopathy (RBM) is a rare myopathy characterized by the presence of unique sarcoplasmic inclusions called reducing bodies (RBs). We characterized the aggresomal features of RBs that contained gamma-tubulin, ubiquitin, and endoplasmic reticulum (ER) chaperones, together with a set of membrane proteins, in a family with hereditary RBM. Increased messenger ribonucleic acid and protein levels of a molecular chaperone, glucose-related protein 78, were also observed. These results suggest that the unfolded protein response caused by the accumulation of misfolded proteins in the endoplasmic reticulum plays an important role in the formation of RBs.

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Year:  2007        PMID： 17099882     DOI： 10.1002/mus.20691

Source DB:  PubMed          Journal:  Muscle Nerve        ISSN： 0148-639X            Impact factor:   3.217


  11 in total

1.  Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts.

Authors:  Marco Garieri; Georgios Stamoulis; Xavier Blanc; Emilie Falconnet; Pascale Ribaux; Christelle Borel; Federico Santoni; Stylianos E Antonarakis
Journal:  Proc Natl Acad Sci U S A       Date:  2018-12-03       Impact factor: 11.205

2.  199th ENMC international workshop: FHL1 related myopathies, June 7-9, 2013, Naarden, The Netherlands.

Authors:  Anne T Bertrand; Carsten G Bönnemann; Gisèle Bonne
Journal:  Neuromuscul Disord       Date:  2014-02-14       Impact factor: 4.296

3.  Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.

Authors:  Joachim Schessl; Ana L Taratuto; Caroline Sewry; Roberta Battini; Steven S Chin; Baijayanta Maiti; Alberto L Dubrovsky; Marcela G Erro; Graciela Espada; Monica Robertella; Maria Saccoliti; Patricia Olmos; Leslie R Bridges; Peter Standring; Ying Hu; Yaqun Zou; Kathryn J Swoboda; Mena Scavina; Hans-Hilmar Goebel; Christina A Mitchell; Kevin M Flanigan; Francesco Muntoni; Carsten G Bönnemann
Journal:  Brain       Date:  2009-01-29       Impact factor: 13.501

4.  Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy.

Authors:  Joachim Schessl; Yaqun Zou; Meagan J McGrath; Belinda S Cowling; Baijayanta Maiti; Steven S Chin; Caroline Sewry; Roberta Battini; Ying Hu; Denny L Cottle; Michael Rosenblatt; Lynn Spruce; Arupa Ganguly; Janbernd Kirschner; Alexander R Judkins; Jeffrey A Golden; Hans-Hilmar Goebel; Francesco Muntoni; Kevin M Flanigan; Christina A Mitchell; Carsten G Bönnemann
Journal:  J Clin Invest       Date:  2008-03       Impact factor: 14.808

5.  Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders.

Authors:  Edoardo Malfatti; Montse Olivé; Ana Lía Taratuto; Pascale Richard; Guy Brochier; Marc Bitoun; Lucie Gueneau; Pascal Laforêt; Tanya Stojkovic; Thierry Maisonobe; Soledad Monges; Fabiana Lubieniecki; Gabriel Vasquez; Nathalie Streichenberger; Emmanuelle Lacène; Maria Saccoliti; Bernard Prudhon; Marilena Alexianu; Dominique Figarella-Branger; Joachim Schessl; Carsten Bonnemann; Bruno Eymard; Michel Fardeau; Gisèle Bonne; Norma Beatriz Romero
Journal:  J Neuropathol Exp Neurol       Date:  2013-09       Impact factor: 3.685

6.  Deletion of hexose-6-phosphate dehydrogenase activates the unfolded protein response pathway and induces skeletal myopathy.

Authors:  Gareth G Lavery; Elizabeth A Walker; Nil Turan; Daniela Rogoff; Jeffery W Ryder; John M Shelton; James A Richardson; Francesco Falciani; Perrin C White; Paul M Stewart; Keith L Parker; Daniel R McMillan
Journal:  J Biol Chem       Date:  2008-01-25       Impact factor: 5.157

7.  Loss of FHL1 induces an age-dependent skeletal muscle myopathy associated with myofibrillar and intermyofibrillar disorganization in mice.

Authors:  Andrea A Domenighetti; Pao-Hsien Chu; Tongbin Wu; Farah Sheikh; David S Gokhin; Ling T Guo; Ziyou Cui; Angela K Peter; Danos C Christodoulou; Michael G Parfenov; Joshua M Gorham; Daniel Y Li; Indroneal Banerjee; Xianyin Lai; Frank A Witzmann; Christine E Seidman; Jonathan G Seidman; Aldrin V Gomes; G Diane Shelton; Richard L Lieber; Ju Chen
Journal:  Hum Mol Genet       Date:  2013-08-23       Impact factor: 6.150

8.  Gene expression profiling in tibial muscular dystrophy reveals unfolded protein response and altered autophagy.

Authors:  Mark Screen; Olayinka Raheem; Jeanette Holmlund-Hampf; Per Harald Jonson; Sanna Huovinen; Peter Hackman; Bjarne Udd
Journal:  PLoS One       Date:  2014-03-11       Impact factor: 3.240

9.  Identification of FHL1 as a regulator of skeletal muscle mass: implications for human myopathy.

Authors:  Belinda S Cowling; Meagan J McGrath; Mai-Anh Nguyen; Denny L Cottle; Anthony J Kee; Susan Brown; Joachim Schessl; Yaqun Zou; Josephine Joya; Carsten G Bönnemann; Edna C Hardeman; Christina A Mitchell
Journal:  J Cell Biol       Date:  2008-12-15       Impact factor: 10.539

10.  Aggresome-Autophagy Involvement in a Sarcopenic Patient with Rigid Spine Syndrome and a p.C150R Mutation in FHL1 Gene.

Authors:  Patrizia Sabatelli; Silvia Castagnaro; Francesca Tagliavini; Martina Chrisam; Francesca Sardone; Laurence Demay; Pascale Richard; Spartaco Santi; Nadir M Maraldi; Luciano Merlini; Marco Sandri; Paolo Bonaldo
Journal:  Front Aging Neurosci       Date:  2014-08-19       Impact factor: 5.750
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