Literature DB >> 15565283

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

Bei-sha Tang1, 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.   

Abstract

Charcot-Marie-Tooth (CMT) disease is the most common inherited motor and sensory neuropathy. We have previously described a large Chinese CMT family and assigned the locus underlying the disease (CMT2L; OMIM 608673) to chromosome 12q24. Here, we report a novel c.423G-->T (Lys141Asn) missense mutation of small heat-shock protein 22-kDa protein 8 (encoded by HSPB8), which is also responsible for distal hereditary motor neuropathy type (dHMN) II. No disease-causing mutations have been identified in another 114 CMT families.

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Year:  2004        PMID： 15565283     DOI： 10.1007/s00439-004-1218-3

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  7 in total

Review 1.  Charcot-Marie-Tooth disease and related peripheral neuropathies.

Authors:  P De Jonghe; V Timmerman; E Nelis; J J Martin; C Van Broeckhoven
Journal:  J Peripher Nerv Syst       Date:  1997       Impact factor: 3.494

Review 2.  2nd Workshop of the European CMT Consortium: 53rd ENMC International Workshop on Classification and Diagnostic Guidelines for Charcot-Marie-Tooth Type 2 (CMT2-HMSN II) and Distal Hereditary Motor Neuropathy (distal HMN-Spinal CMT) 26-28 September 1997, Naarden, The Netherlands.

Authors: 
Journal:  Neuromuscul Disord       Date:  1998-08       Impact factor: 4.296

3.  Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

Authors:  Anthony Antonellis; Rachel E Ellsworth; Nyamkhishig Sambuughin; Imke Puls; Annette Abel; Shih-Queen Lee-Lin; Albena Jordanova; Ivo Kremensky; Kyproula Christodoulou; Lefkos T Middleton; Kumaraswamy Sivakumar; Victor Ionasescu; Benoit Funalot; Jeffery M Vance; Lev G Goldfarb; Kenneth H Fischbeck; Eric D Green
Journal:  Am J Hum Genet       Date:  2003-04-10       Impact factor: 11.025

4.  Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy.

Authors:  Joy Irobi; Katrien Van Impe; Pavel Seeman; Albena Jordanova; Ines Dierick; Nathalie Verpoorten; Andrej Michalik; Els De Vriendt; An Jacobs; Veerle Van Gerwen; Krist'l Vennekens; Radim Mazanec; Ivailo Tournev; David Hilton-Jones; Kevin Talbot; Ivo Kremensky; Ludo Van Den Bosch; Wim Robberecht; Joël Van Vandekerckhove; Christine Van Broeckhoven; Jan Gettemans; Peter De Jonghe; Vincent Timmerman
Journal:  Nat Genet       Date:  2004-05-02       Impact factor: 38.330

5.  Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.

Authors:  Oleg V Evgrafov; Irena Mersiyanova; Joy Irobi; Ludo Van Den Bosch; Ines Dierick; Conrad L Leung; Olga Schagina; Nathalie Verpoorten; Katrien Van Impe; Valeriy Fedotov; Elena Dadali; Michaela Auer-Grumbach; Christian Windpassinger; Klaus Wagner; Zoran Mitrovic; David Hilton-Jones; Kevin Talbot; Jean-Jacques Martin; Natalia Vasserman; Svetlana Tverskaya; Alexander Polyakov; Ronald K H Liem; Jan Gettemans; Wim Robberecht; Peter De Jonghe; Vincent Timmerman
Journal:  Nat Genet       Date:  2004-05-02       Impact factor: 38.330

6.  Linkage analysis of distal hereditary motor neuropathy type II (distal HMN II) in a single pedigree.

Authors:  V Timmerman; P Raeymaekers; E Nelis; P De Jonghe; L Muylle; C Ceuterick; J J Martin; C Van Broeckhoven
Journal:  J Neurol Sci       Date:  1992-05       Impact factor: 3.181

7.  A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24.

Authors:  Bei-Sha Tang; Wei Luo; Kun Xia; Jian-Feng Xiao; Hong Jiang; Lu Shen; Jian-Guang Tang; Guo-Hua Zhao; Fang Cai; Qian Pan; He-Ping Dai; Qi-Dong Yang; Jia-Hui Xia; Oleg V Evgrafov
Journal:  Hum Genet       Date:  2004-03-12       Impact factor: 4.132
  7 in total
  57 in total

Review 1.  Inherited neuropathies: clinical overview and update.

Authors:  Christopher J Klein; Xiaohui Duan; Michael E Shy
Journal:  Muscle Nerve       Date:  2013-06-26       Impact factor: 3.217

2.  Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy.

Authors:  Kazuki Kijima; Chikahiko Numakura; Tomohide Goto; Takao Takahashi; Tesshu Otagiri; Kazuo Umetsu; Kiyoshi Hayasaka
Journal:  J Hum Genet       Date:  2005-09-10       Impact factor: 3.172

3.  Comparison of CMT1A and CMT2: similarities and differences.

Authors:  Henriette M E Bienfait; Camiel Verhamme; Ivo N van Schaik; Johannes H T M Koelman; Bram W Ongerboer de Visser; Rob J de Haan; Frank Baas; Baziel G M van Engelen; Marianne de Visser
Journal:  J Neurol       Date:  2006-08-28       Impact factor: 4.849

Review 4.  Small heat-shock proteins: important players in regulating cellular proteostasis.

Authors:  Teresa M Treweek; Sarah Meehan; Heath Ecroyd; John A Carver
Journal:  Cell Mol Life Sci       Date:  2014-10-29       Impact factor: 9.261

Review 5.  The BAG3-dependent and -independent roles of cardiac small heat shock proteins.

Authors:  Xi Fang; Julius Bogomolovas; Christa Trexler; Ju Chen
Journal:  JCI Insight       Date:  2019-02-21

Review 6.  A review of genetic counseling for Charcot Marie Tooth disease (CMT).

Authors:  Carly E Siskind; Seema Panchal; Corrine O Smith; Shawna M E Feely; Joline C Dalton; Alice B Schindler; Karen M Krajewski
Journal:  J Genet Couns       Date:  2013-04-21       Impact factor: 2.537

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

Authors:  Michael Shy; Adriana P Rebelo; Shawna Me Feely; Lisa A Abreu; Feifei Tao; Andrea Swenson; Chelsea Bacon; Stephan Zuchner
Journal:  J Neurol Neurosurg Psychiatry       Date:  2017-07-28       Impact factor: 10.154

8.  Phenotype of cardiomyopathy in cardiac-specific heat shock protein B8 K141N transgenic mouse.

Authors:  Atsushi Sanbe; Tetsuro Marunouchi; Tsutomu Abe; Yu Tezuka; Mizuki Okada; Sayuri Aoki; Hideki Tsumura; Junji Yamauchi; Kouichi Tanonaka; Hideo Nishigori; Akito Tanoue
Journal:  J Biol Chem       Date:  2013-02-06       Impact factor: 5.157

Review 9.  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

10.  Mutant HSPB8 causes motor neuron-specific neurite degeneration.

Authors:  Joy Irobi; Leonardo Almeida-Souza; Bob Asselbergh; Vicky De Winter; Sofie Goethals; Ines Dierick; Jyothsna Krishnan; Jean-Pierre Timmermans; Wim Robberecht; Peter De Jonghe; Ludo Van Den Bosch; Sophie Janssens; Vincent Timmerman
Journal:  Hum Mol Genet       Date:  2010-06-10       Impact factor: 6.150
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