Literature DB >> 28754666

Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease.

Michael Shy1, Adriana P Rebelo2, Shawna Me Feely1, Lisa A Abreu2, Feifei Tao2, Andrea Swenson1, Chelsea Bacon1, Stephan Zuchner2.   

Abstract

Entities:  

Keywords:  Genetics; Hmsn (charcot-marie-tooth)

Mesh：

Substances：

Year:  2017        PMID： 28754666      PMCID： PMC6152909          DOI： 10.1136/jnnp-2017-315929

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  9 in total

1.  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

2.  Impairments and comorbidities of polyneuropathy revealed by population-based analyses.

Authors:  E Matthew Hoffman; Nathan P Staff; Jared M Robb; Jennifer L St Sauver; Peter J Dyck; Christopher J Klein
Journal:  Neurology       Date:  2015-04-01       Impact factor: 9.910

3.  Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L.

Authors:  Bei-sha Tang; Guo-hua Zhao; Wei Luo; Kun Xia; Fang Cai; Qian Pan; Ru-xu Zhang; Fu-feng Zhang; Xiao-min Liu; Biao Chen; Cheng Zhang; Lu Shen; Hong Jiang; Zhi-gao Long; He-ping Dai
Journal:  Hum Genet       Date:  2004-11-23       Impact factor: 4.132

4.  Mutation in BAG3 causes severe dominant childhood muscular dystrophy.

Authors:  Duygu Selcen; Francesco Muntoni; Barbara K Burton; Elena Pegoraro; Caroline Sewry; Anna V Bite; Andrew G Engel
Journal:  Ann Neurol       Date:  2009-01       Impact factor: 10.422

5.  An evolutionarily conserved family of Hsp70/Hsc70 molecular chaperone regulators.

Authors:  S Takayama; Z Xie; J C Reed
Journal:  J Biol Chem       Date:  1999-01-08       Impact factor: 5.157

6.  Identification of the key structural motifs involved in HspB8/HspB6-Bag3 interaction.

Authors:  Margit Fuchs; Dominic J Poirier; Samuel J Seguin; Herman Lambert; Serena Carra; Steve J Charette; Jacques Landry
Journal:  Biochem J       Date:  2009-12-14       Impact factor: 3.857

7.  BAG3 mutations: another cause of giant axonal neuropathy.

Authors:  Fatima Jaffer; Sinéad M Murphy; Mariacristina Scoto; Estelle Healy; Alexander M Rossor; Sebastian Brandner; Rahul Phadke; Duygu Selcen; Heinz Jungbluth; Francesco Muntoni; Mary M Reilly
Journal:  J Peripher Nerv Syst       Date:  2012-06       Impact factor: 3.494

8.  Induction and adaptation of chaperone-assisted selective autophagy CASA in response to resistance exercise in human skeletal muscle.

Authors:  Anna Ulbricht; Sebastian Gehlert; Barbara Leciejewski; Thorsten Schiffer; Wilhelm Bloch; Jörg Höhfeld
Journal:  Autophagy       Date:  2015       Impact factor: 16.016

9.  Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.

Authors:  Anna-Lena Semmler; Sabrina Sacconi; J Elisa Bach; Claus Liebe; Jan Bürmann; Rudolf A Kley; Andreas Ferbert; Roland Anderheiden; Peter Van den Bergh; Jean-Jacques Martin; Peter De Jonghe; Eva Neuen-Jacob; Oliver Müller; Marcus Deschauer; Markus Bergmann; J Michael Schröder; Matthias Vorgerd; Jörg B Schulz; Joachim Weis; Wolfram Kress; Kristl G Claeys
Journal:  Orphanet J Rare Dis       Date:  2014-08-01       Impact factor: 4.123
  9 in total
  8 in total

Review 1.  The role of BAG3 in dilated cardiomyopathy and its association with Charcot-Marie-Tooth disease type 2.

Authors:  Nitya Yerabandi; Valentina L Kouznetsova; Santosh Kesari; Igor F Tsigelny
Journal:  Acta Myol       Date:  2022-06-30

Review 2.  Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.

Authors:  Jaakko Sarparanta; Per Harald Jonson; Sabita Kawan; Bjarne Udd
Journal:  Int J Mol Sci       Date:  2020-02-19       Impact factor: 5.923

Review 3.  The role of BAG3 in health and disease: A "Magic BAG of Tricks".

Authors:  Heng Lin; Shon A Koren; Gregor Cvetojevic; Peter Girardi; Gail V W Johnson
Journal:  J Cell Biochem       Date:  2021-05-14       Impact factor: 4.480

Review 4.  Small heat shock proteins in neurodegenerative diseases.

Authors:  Leen Vendredy; Elias Adriaenssens; Vincent Timmerman
Journal:  Cell Stress Chaperones       Date:  2020-04-22       Impact factor: 3.667

Review 5.  Insights on Human Small Heat Shock Proteins and Their Alterations in Diseases.

Authors:  B Tedesco; R Cristofani; V Ferrari; M Cozzi; P Rusmini; E Casarotto; M Chierichetti; F Mina; M Galbiati; M Piccolella; V Crippa; A Poletti
Journal:  Front Mol Biosci       Date:  2022-02-25

Review 6.  Role of the Ubiquitin System in Stress Granule Metabolism.

Authors:  Nazife Tolay; Alexander Buchberger
Journal:  Int J Mol Sci       Date:  2022-03-26       Impact factor: 5.923

7.  Case Report: Early-Onset Charcot-Marie-Tooth 2N With Reversible White Matter Lesions Repeatedly Mimicked Stroke or Encephalitis.

Authors:  Huasheng Huang; Yu Zhang; Mingxiu Yang; Baorong Lian; Rui Guo; Liming Cao
Journal:  Front Pediatr       Date:  2022-07-13       Impact factor: 3.569

8.  A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.

Authors:  Andre Megarbane; Sami Bizzari; Asha Deepthi; Sandra Sabbagh; Hicham Mansour; Eliane Chouery; Ghassan Hmaimess; Rosette Jabbour; Cybel Mehawej; Saada Alame; Abeer Hani; Dana Hasbini; Ismat Ghanem; Salam Koussa; Mahmoud Taleb Al-Ali; Marc Obeid; Diana Bou Talea; Gerard Lefranc; Nicolas Lévy; France Leturcq; Stephany El Hayek; Valérie Delague; J Andoni Urtizberea
Journal:  J Neuromuscul Dis       Date:  2022
  8 in total

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