Literature DB >> 32093037

Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.

Jaakko Sarparanta1, Per Harald Jonson1, Sabita Kawan1, Bjarne Udd1,2,3.   

Abstract

Skeletal muscle and the nervous system depend on efficient protein quality control, and they express chaperones and cochaperones at high levels to maintain protein homeostasis. Mutations in many of these proteins cause neuromuscular diseases, myopathies, and hereditary motor and sensorimotor neuropathies. In this review, we cover mutations in DNAJB6, DNAJB2, αB-crystallin (CRYAB, HSPB5), HSPB1, HSPB3, HSPB8, and BAG3, and discuss the molecular mechanisms by which they cause neuromuscular disease. In addition, previously unpublished results are presented, showing downstream effects of BAG3 p.P209L on DNAJB6 turnover and localization.

Entities:  

Keywords:  J-domain protein; heat shock protein; myopathy; neuropathy; pathomechanism

Mesh：

Substances：

Year:  2020        PMID： 32093037      PMCID： PMC7073051          DOI： 10.3390/ijms21041409

Source DB:  PubMed          Journal:  Int J Mol Sci        ISSN： 1422-0067            Impact factor:   5.923


  529 in total

1.  Distinct chaperone mechanisms can delay the formation of aggresomes by the myopathy-causing R120G alphaB-crystallin mutant.

Authors:  Aura T Chávez Zobel; Anne Loranger; Normand Marceau; Jimmy R Thériault; Herman Lambert; Jacques Landry
Journal:  Hum Mol Genet       Date:  2003-07-01       Impact factor: 6.150

2.  Hsp27 inhibits cytochrome c-mediated caspase activation by sequestering both pro-caspase-3 and cytochrome c.

Authors:  C G Concannon; S Orrenius; A Samali
Journal:  Gene Expr       Date:  2001

3.  Heat shock protein 27 and alpha B-crystallin can form a complex, which dissociates by heat shock.

Authors:  A Zantema; M Verlaan-De Vries; D Maasdam; S Bol; A van der Eb
Journal:  J Biol Chem       Date:  1992-06-25       Impact factor: 5.157

4.  Cellular Functions and Mechanisms of Action of Small Heat Shock Proteins.

Authors:  Axel Mogk; Carmen Ruger-Herreros; Bernd Bukau
Journal:  Annu Rev Microbiol       Date:  2019-05-15       Impact factor: 15.500

5.  BAG3 deficiency results in fulminant myopathy and early lethality.

Authors:  Sachiko Homma; Masahiro Iwasaki; G Diane Shelton; Eva Engvall; John C Reed; Shinichi Takayama
Journal:  Am J Pathol       Date:  2006-09       Impact factor: 4.307

6.  Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy.

Authors:  Nadine Norton; Duanxiang Li; Mark J Rieder; Jill D Siegfried; Evadnie Rampersaud; Stephan Züchner; Steve Mangos; Jorge Gonzalez-Quintana; Libin Wang; Sean McGee; Jochen Reiser; Eden Martin; Deborah A Nickerson; Ray E Hershberger
Journal:  Am J Hum Genet       Date:  2011-02-25       Impact factor: 11.025

7.  Characterization of BAG3 cleavage during apoptosis of pancreatic cancer cells.

Authors:  Hua-Qin Wang; Xin Meng; Yan-Yan Gao; Bao-Qin Liu; Xiao-Fang Niu; Hai-Yan Zhang; Zhen-Xian Du
Journal:  J Cell Physiol       Date:  2010-07       Impact factor: 6.384

Review 8.  Desmin in muscle and associated diseases: beyond the structural function.

Authors:  Karim Hnia; Caroline Ramspacher; Julien Vermot; Jocelyn Laporte
Journal:  Cell Tissue Res       Date:  2014-10-31       Impact factor: 5.249

9.  Dilated cardiomyopathy-associated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes.

Authors:  Takuro Arimura; Taisuke Ishikawa; Shinichi Nunoda; Sachio Kawai; Akinori Kimura
Journal:  Hum Mutat       Date:  2011-09-29       Impact factor: 4.878

10.  DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions.

Authors:  Takatoshi Sato; Yukiko K Hayashi; Yasushi Oya; Tomoyoshi Kondo; Kazuma Sugie; Daita Kaneda; Hideki Houzen; Ichiro Yabe; Hidenao Sasaki; Satoru Noguchi; Ikuya Nonaka; Makiko Osawa; Ichizo Nishino
Journal:  Neuromuscul Disord       Date:  2013-02-06       Impact factor: 4.296
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  11 in total

1.  Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure.

Authors:  Conrad C Weihl; Ana Töpf; Rocio Bengoechea; Jennifer Duff; Richard Charlton; Solange Kapetanovic Garcia; Cristina Domínguez-González; Abdulaziz Alsaman; Aurelio Hernández-Laín; Luis Varona Franco; Monica Elizabeth Ponce Sanchez; Sarah J Beecroft; Hayley Goullee; Jil Daw; Ankan Bhadra; Heather True; Michio Inoue; Andrew R Findlay; Nigel Laing; Montse Olivé; Gianina Ravenscroft; Volker Straub
Journal:  Acta Neuropathol       Date:  2022-10-20       Impact factor: 15.887

2.  Early and late manifestations of neuropathy due to HSPB1 mutation in the Jewish Iranian population.

Authors:  Lior Greenbaum; Merav Ben-David; Vera Nikitin; Orna Gera; Ortal Barel; Adi Hersalis-Eldar; Jana Shamash; Noam Shimshoviz; Haike Reznik-Wolf; Mordechai Shohat; Dan Dominissini; Elon Pras; Amir Dori
Journal:  Ann Clin Transl Neurol       Date:  2021-05-11       Impact factor: 4.511

Review 3.  Cellular Stress in the Pathogenesis of Muscular Disorders-From Cause to Consequence.

Authors:  Alexander Mensch; Stephan Zierz
Journal:  Int J Mol Sci       Date:  2020-08-13       Impact factor: 5.923

4.  A novel recessive mutation affecting DNAJB6a causes myofibrillar myopathy.

Authors:  Fang-Yuan Qian; Yu-Dong Guo; Juan Zu; Jin-Hua Zhang; Yi-Ming Zheng; Idriss Ali Abdoulaye; Zhao-Hui Pan; Chun-Ming Xie; Han-Chao Gao; Zhi-Jun Zhang
Journal:  Acta Neuropathol Commun       Date:  2021-02-08       Impact factor: 7.801

5.  Panorama of the distal myopathies.

Authors:  Marco Savarese; Jaakko Sarparanta; Anna Vihola; Per Harald Jonson; Mridul Johari; Salla Rusanen; Peter Hackman; Bjarne Udd
Journal:  Acta Myol       Date:  2020-12-01

Review 6.  Skeletal and Cardiac Muscle Disorders Caused by Mutations in Genes Encoding Intermediate Filament Proteins.

Authors:  Lorenzo Maggi; Manolis Mavroidis; Stelios Psarras; Yassemi Capetanaki; Giovanna Lattanzi
Journal:  Int J Mol Sci       Date:  2021-04-20       Impact factor: 5.923

7.  Proximity proteomics of C9orf72 dipeptide repeat proteins identifies molecular chaperones as modifiers of poly-GA aggregation.

Authors:  Feilin Liu; Dmytro Morderer; Melissa C Wren; Sara A Vettleson-Trutza; Yanzhe Wang; Benjamin E Rabichow; Michelle R Salemi; Brett S Phinney; Björn Oskarsson; Dennis W Dickson; Wilfried Rossoll
Journal:  Acta Neuropathol Commun       Date:  2022-02-14       Impact factor: 7.801

8.  Case Report: A Novel Splice-Site Mutation in DNAJB6 Associated With Juvenile-Onset Proximal-Distal Myopathy in a Chinese Patient.

Authors:  Guang Ji; Ning Wang; Xu Han; Yaye Wang; Jinru Zhang; Yue Wu; Hongran Wu; Shaojuan Ma; Xueqin Song
Journal:  Front Genet       Date:  2022-06-23       Impact factor: 4.772

9.  DNAJB2-related Charcot-Marie-Tooth disease type 2: Pathomechanism insights and phenotypic spectrum widening.

Authors:  Paola Saveri; Stefania Magri; Emanuela Maderna; Francesca Balistreri; Raffaella Lombardi; Claudia Ciano; Fabio Moda; Barbara Garavaglia; Chiara Reale; Giuseppe Lauria Pinter; Franco Taroni; Davide Pareyson; Chiara Pisciotta
Journal:  Eur J Neurol       Date:  2022-03-23       Impact factor: 6.288

Review 10.  Homeostatic Roles of the Proteostasis Network in Dendrites.

Authors:  Erin N Lottes; Daniel N Cox
Journal:  Front Cell Neurosci       Date:  2020-08-14       Impact factor: 5.505
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