Literature DB >> 21880997

Novel p.Ile151Val mutation in VCP in a patient of African American descent with sporadic ALS.

M DeJesus-Hernandez1, P Desaro, A Johnston, O A Ross, Z K Wszolek, N Ertekin-Taner, N R Graff-Radford, R Rademakers, K Boylan.   

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Year:  2011        PMID： 21880997      PMCID： PMC3174069          DOI： 10.1212/WNL.0b013e31822e563c

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  5 in total

1.  A novel ATP-dependent conformation in p97 N-D1 fragment revealed by crystal structures of disease-related mutants.

Authors:  Wai Kwan Tang; Dongyang Li; Chou-chi Li; Lothar Esser; Renming Dai; Liang Guo; Di Xia
Journal:  EMBO J       Date:  2010-05-28       Impact factor: 11.598

2.  The ALSFRS-R: a revised ALS functional rating scale that incorporates assessments of respiratory function. BDNF ALS Study Group (Phase III).

Authors:  J M Cedarbaum; N Stambler; E Malta; C Fuller; D Hilt; B Thurmond; A Nakanishi
Journal:  J Neurol Sci       Date:  1999-10-31       Impact factor: 3.181

3.  Exome sequencing reveals VCP mutations as a cause of familial ALS.

Authors:  Janel O Johnson; Jessica Mandrioli; Michael Benatar; Yevgeniya Abramzon; Vivianna M Van Deerlin; John Q Trojanowski; J Raphael Gibbs; Maura Brunetti; Susan Gronka; Joanne Wuu; Jinhui Ding; Leo McCluskey; Maria Martinez-Lage; Dana Falcone; Dena G Hernandez; Sampath Arepalli; Sean Chong; Jennifer C Schymick; Jeffrey Rothstein; Francesco Landi; Yong-Dong Wang; Andrea Calvo; Gabriele Mora; Mario Sabatelli; Maria Rosaria Monsurrò; Stefania Battistini; Fabrizio Salvi; Rossella Spataro; Patrizia Sola; Giuseppe Borghero; Giuliana Galassi; Sonja W Scholz; J Paul Taylor; Gabriella Restagno; Adriano Chiò; Bryan J Traynor
Journal:  Neuron       Date:  2010-12-09       Impact factor: 17.173

Review 4.  Inclusion body myopathy, Paget's disease of the bone and fronto-temporal dementia: a disorder of autophagy.

Authors:  Jeong-Sun Ju; Conrad C Weihl
Journal:  Hum Mol Genet       Date:  2010-04-21       Impact factor: 6.150

5.  Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein.

Authors:  Giles D J Watts; Jill Wymer; Margaret J Kovach; Sarju G Mehta; Steven Mumm; Daniel Darvish; Alan Pestronk; Michael P Whyte; Virginia E Kimonis
Journal:  Nat Genet       Date:  2004-03-21       Impact factor: 38.330
  5 in total
  22 in total

Review 1.  Clinical neurogenetics: amyotrophic lateral sclerosis.

Authors:  Matthew B Harms; Robert H Baloh
Journal:  Neurol Clin       Date:  2013-11       Impact factor: 3.806

2.  A progressive translational mouse model of human valosin-containing protein disease: the VCP(R155H/+) mouse.

Authors:  Angèle Nalbandian; Katrina J Llewellyn; Mallikarjun Badadani; Hong Z Yin; Christopher Nguyen; Veeral Katheria; Giles Watts; Jogeshwar Mukherjee; Jouni Vesa; Vincent Caiozzo; Tahseen Mozaffar; John H Weiss; Virginia E Kimonis
Journal:  Muscle Nerve       Date:  2012-11-21       Impact factor: 3.217

Review 3.  Regulation of molecular chaperones through post-translational modifications: decrypting the chaperone code.

Authors:  Philippe Cloutier; Benoit Coulombe
Journal:  Biochim Biophys Acta       Date:  2013-02-28

4.  Altered cofactor regulation with disease-associated p97/VCP mutations.

Authors:  Xiaoyi Zhang; Lin Gui; Xiaoyan Zhang; Stacie L Bulfer; Valentina Sanghez; Daniel E Wong; YouJin Lee; Lynn Lehmann; James Siho Lee; Pei-Yin Shih; Henry J Lin; Michelina Iacovino; Conrad C Weihl; Michelle R Arkin; Yanzhuang Wang; Tsui-Fen Chou
Journal:  Proc Natl Acad Sci U S A       Date:  2015-03-16       Impact factor: 11.205

5.  Phenotypic variability in three families with valosin-containing protein mutation.

Authors:  S Spina; A D Van Laar; J R Murrell; R L Hamilton; J K Kofler; F Epperson; M R Farlow; O L Lopez; J Quinlan; S T DeKosky; B Ghetti
Journal:  Eur J Neurol       Date:  2012-08-20       Impact factor: 6.089

6.  Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia.

Authors:  S G Mehta; M Khare; R Ramani; G D J Watts; M Simon; K E Osann; S Donkervoort; E Dec; A Nalbandian; J Platt; M Pasquali; A Wang; T Mozaffar; C D Smith; V E Kimonis
Journal:  Clin Genet       Date:  2012-10-04       Impact factor: 4.438

Review 7.  State of play in amyotrophic lateral sclerosis genetics.

Authors:  Alan E Renton; Adriano Chiò; Bryan J Traynor
Journal:  Nat Neurosci       Date:  2013-12-26       Impact factor: 24.884

8.  Vapb/Amyotrophic lateral sclerosis 8 knock-in mice display slowly progressive motor behavior defects accompanying ER stress and autophagic response.

Authors:  Frédérique Larroquette; Lesley Seto; Perrine L Gaub; Brishna Kamal; Deeann Wallis; Roxanne Larivière; Joanne Vallée; Richard Robitaille; Hiroshi Tsuda
Journal:  Hum Mol Genet       Date:  2015-09-11       Impact factor: 6.150

Review 9.  A review of quality of life after predictive testing for and earlier identification of neurodegenerative diseases.

Authors:  Jane S Paulsen; Martha Nance; Ji-In Kim; Noelle E Carlozzi; Peter K Panegyres; Cheryl Erwin; Anita Goh; Elizabeth McCusker; Janet K Williams
Journal:  Prog Neurobiol       Date:  2013-09-11       Impact factor: 11.685

10.  215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13-15 November 2015, Heemskerk, The Netherlands.

Authors:  Teresinha Evangelista; Conrad C Weihl; Virginia Kimonis; Hanns Lochmüller
Journal:  Neuromuscul Disord       Date:  2016-05-30       Impact factor: 4.296
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