Literature DB >> 30424919

234th ENMC International Workshop: Chaperone dysfunction in muscle disease Naarden, The Netherlands, 8-10 December 2017.

Conrad C Weihl1, Bjarne Udd2, Michael Hanna3.   

Abstract

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Year:  2018        PMID： 30424919      PMCID： PMC6515901          DOI： 10.1016/j.nmd.2018.09.004

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


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  19 in total

1.  Impaired autophagy, chaperone expression, and protein synthesis in response to critical illness interventions in porcine skeletal muscle.

Authors:  Varuna C Banduseela; Yi-Wen Chen; Hanna Göransson Kultima; Holly S Norman; Sudhakar Aare; Peter Radell; Lars I Eriksson; Eric P Hoffman; Lars Larsson
Journal:  Physiol Genomics       Date:  2013-04-09       Impact factor: 3.107

Review 2.  BAG3-mediated proteostasis at a glance.

Authors:  Christina Klimek; Barbara Kathage; Judith Wördehoff; Jörg Höhfeld
Journal:  J Cell Sci       Date:  2017-08-14       Impact factor: 5.285

3.  Proteomics of rimmed vacuoles define new risk allele in inclusion body myositis.

Authors:  Anne-Katrin Güttsches; Stefen Brady; Kathryn Krause; Alexandra Maerkens; Julian Uszkoreit; Martin Eisenacher; Anja Schreiner; Sara Galozzi; Janine Mertens-Rill; Martin Tegenthoff; Janice L Holton; Matthew B Harms; Thomas E Lloyd; Matthias Vorgerd; Conrad C Weihl; Katrin Marcus; Rudolf A Kley
Journal:  Ann Neurol       Date:  2017-01-27       Impact factor: 10.422

4.  A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy.

Authors:  P Vicart; A Caron; P Guicheney; Z Li; M C Prévost; A Faure; D Chateau; F Chapon; F Tomé; J M Dupret; D Paulin; M Fardeau
Journal:  Nat Genet       Date:  1998-09       Impact factor: 38.330

5.  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

Review 6.  Animal models and therapeutic prospects for Charcot-Marie-Tooth disease.

Authors:  Delphine Bouhy; Vincent Timmerman
Journal:  Ann Neurol       Date:  2013-09       Impact factor: 10.422

7.  Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy.

Authors:  Jaakko Sarparanta; Per Harald Jonson; Christelle Golzio; Satu Sandell; Helena Luque; Mark Screen; Kristin McDonald; Jeffrey M Stajich; Ibrahim Mahjneh; Anna Vihola; Olayinka Raheem; Sini Penttilä; Sara Lehtinen; Sanna Huovinen; Johanna Palmio; Giorgio Tasca; Enzo Ricci; Peter Hackman; Michael Hauser; Nicholas Katsanis; Bjarne Udd
Journal:  Nat Genet       Date:  2012-02-26       Impact factor: 38.330

Review 8.  Chaperonopathies: Spotlight on Hereditary Motor Neuropathies.

Authors:  Vincenzo Lupo; Carmen Aguado; Erwin Knecht; Carmen Espinós
Journal:  Front Mol Biosci       Date:  2016-12-14

9.  Sil1-Mutant Mice Elucidate Chaperone Function in Neurological Disorders.

Authors:  Stephan Buchkremer; José Andrés González Coraspe; Joachim Weis; Andreas Roos
Journal:  J Neuromuscul Dis       Date:  2016-05-27

10.  Human myocytes are protected from titin aggregation-induced stiffening by small heat shock proteins.

Authors:  Sebastian Kötter; Andreas Unger; Nazha Hamdani; Patrick Lang; Matthias Vorgerd; Luitgard Nagel-Steger; Wolfgang A Linke
Journal:  J Cell Biol       Date:  2014-01-13       Impact factor: 10.539
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  2 in total

1.  Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.

Authors:  Sandra Donkervoort; Carl E Kutzner; Ying Hu; Xavière Lornage; John Rendu; Tanya Stojkovic; Jonathan Baets; Sarah B Neuhaus; Jantima Tanboon; Reza Maroofian; Véronique Bolduc; Magdalena Mroczek; Stefan Conijn; Nancy L Kuntz; Ana Töpf; Soledad Monges; Fabiana Lubieniecki; Riley M McCarty; Katherine R Chao; Serena Governali; Johann Böhm; Kanokwan Boonyapisit; Edoardo Malfatti; Tumtip Sangruchi; Iren Horkayne-Szakaly; Carola Hedberg-Oldfors; Stephanie Efthymiou; Satoru Noguchi; Sarah Djeddi; Aritoshi Iida; Gabriella di Rosa; Chiara Fiorillo; Vincenzo Salpietro; Niklas Darin; Julien Fauré; Henry Houlden; Anders Oldfors; Ichizo Nishino; Willem de Ridder; Volker Straub; Wojciech Pokrzywa; Jocelyn Laporte; A Reghan Foley; Norma B Romero; Coen Ottenheijm; Thorsten Hoppe; Carsten G Bönnemann
Journal:  Am J Hum Genet       Date:  2020-11-19       Impact factor: 11.025

2.  BAG3 Pro209 mutants associated with myopathy and neuropathy relocate chaperones of the CASA-complex to aggresomes.

Authors:  Elias Adriaenssens; Barbara Tedesco; Laura Mediani; Bob Asselbergh; Valeria Crippa; Francesco Antoniani; Serena Carra; Angelo Poletti; Vincent Timmerman
Journal:  Sci Rep       Date:  2020-05-29       Impact factor: 4.379
  2 in total

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