Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS
10.1016/j.neuron.2010.11.036
Crossref journal-article
Elsevier BV
Neuron (78)
Bibliography

Johnson, J. O., Mandrioli, J., Benatar, M., Abramzon, Y., Van Deerlin, V. M., Trojanowski, J. Q., Gibbs, J. R., Brunetti, M., Gronka, S., Wuu, J., Ding, J., McCluskey, L., Martinez-Lage, M., Falcone, D., Hernandez, D. G., Arepalli, S., Chong, S., Schymick, J. C., Rothstein, J., … Traynor, B. J. (2010). Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS. Neuron, 68(5), 857–864.

Authors 36
  1. Janel O. Johnson (first)
  2. Jessica Mandrioli (additional)
  3. Michael Benatar (additional)
  4. Yevgeniya Abramzon (additional)
  5. Vivianna M. Van Deerlin (additional)
  6. John Q. Trojanowski (additional)
  7. J. Raphael Gibbs (additional)
  8. Maura Brunetti (additional)
  9. Susan Gronka (additional)
  10. Joanne Wuu (additional)
  11. Jinhui Ding (additional)
  12. Leo McCluskey (additional)
  13. Maria Martinez-Lage (additional)
  14. Dana Falcone (additional)
  15. Dena G. Hernandez (additional)
  16. Sampath Arepalli (additional)
  17. Sean Chong (additional)
  18. Jennifer C. Schymick (additional)
  19. Jeffrey Rothstein (additional)
  20. Francesco Landi (additional)
  21. Yong-Dong Wang (additional)
  22. Andrea Calvo (additional)
  23. Gabriele Mora (additional)
  24. Mario Sabatelli (additional)
  25. Maria Rosaria Monsurrò (additional)
  26. Stefania Battistini (additional)
  27. Fabrizio Salvi (additional)
  28. Rossella Spataro (additional)
  29. Patrizia Sola (additional)
  30. Giuseppe Borghero (additional)
  31. Giuliana Galassi (additional)
  32. Sonja W. Scholz (additional)
  33. J. Paul Taylor (additional)
  34. Gabriella Restagno (additional)
  35. Adriano Chiò (additional)
  36. Bryan J. Traynor (additional)
References 42 Referenced 1,062
  1. 10.1038/ng786 / Nat. Genet. / Merlin—rapid analysis of dense genetic maps using sparse gene flow trees by Abecasis (2002)
  2. 10.1016/j.pmr.2005.08.013 / Phys. Med. Rehabil. Clin. N. Am. / Skeletal muscle in amyotrophic lateral sclerosis: Emerging concepts and therapeutic implications by Abmayr (2005)
  3. 10.1016/j.cell.2008.06.048 / Cell / UBXD7 binds multiple ubiquitin ligases and implicates p97 in HIF1alpha turnover by Alexandru (2008)
  4. 10.1136/jnnp.2009.173823 / J. Neurol. Neurosurg. Psychiatry / Inclusion body myositis: Old and new concepts by Amato (2009)
  5. 10.1093/bioinformatics/bth457 / Bioinformatics / Haploview: Analysis and visualization of LD and haplotype maps by Barrett (2005)
  6. 10.1126/science.296.5566.261b / Science / A human genome diversity cell line panel by Cann (2002)
  7. 10.1016/0022-510X(95)00050-C / J. Neurol. Sci. / The validation of El Escorial criteria for the diagnosis of amyotrophic lateral sclerosis: A clinicopathological study by Chaudhuri (1995)
  8. 10.1212/01.wnl.0000299187.90432.3f / Neurology / Prevalence of SOD1 mutations in the Italian ALS population by Chiò (2008)
  9. 10.1016/j.neurobiolaging.2009.05.001 / Neurobiol. Aging / Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation by Chiò (2009)
  10. 10.1073/pnas.0910672106 / Proc. Natl. Acad. Sci. USA / Genetic diagnosis by whole exome capture and massively parallel DNA sequencing by Choi (2009)
  11. 10.1093/hmg/ddq050 / Hum. Mol. Genet. / Transgenic mice expressing mutant forms VCP/p97 recapitulate the full spectrum of IBMPFD including degeneration in muscle, brain and bone by Custer (2010)
  12. 10.1038/35087056 / Nat. Cell Biol. / Valosin-containing protein is a multi-ubiquitin chain-targeting factor required in ubiquitin-proteasome degradation by Dai (2001)
  13. 10.1042/CS20050053 / Clin. Sci. / Genetics of Paget's disease of bone by Daroszewska (2005)
  14. 10.1038/embor.2010.49 / EMBO Rep. / Imbalances in p97 co-factor interactions in human proteinopathy by Fernández-Sáiz (2010)
  15. 10.1074/jbc.M900992200 / J. Biol. Chem. / VCP mutations causing frontotemporal lobar degeneration disrupt localization of TDP-43 and induce cell death by Gitcho (2009)
  16. 10.1016/j.molcel.2006.06.003 / Mol. Cell / p97: The cell's molecular purgatory? by Halawani (2006)
  17. 10.1046/j.1365-2990.1998.00108.x / Neuropathol. Appl. Neurobiol. / Amyotrophic lateral sclerosis: Current issues in classification, pathogenesis and molecular pathology by Ince (1998)
  18. 10.1093/hmg/ddq157 / Hum. Mol. Genet. / Inclusion body myopathy, Paget's disease of the bone and fronto-temporal dementia: A disorder of autophagy by Ju (2010)
  19. 10.1083/jcb.200908115 / J. Cell Biol. / Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease by Ju (2009)
  20. 10.1038/ng.132 / Nat. Genet. / TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis by Kabashi (2008)
  21. 10.1016/j.bbadis.2008.09.003 / Biochim. Biophys. Acta / VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: Review of a unique disorder by Kimonis (2008)
  22. 10.1002/ajmg.a.31862 / Am. J. Med. Genet. A. / Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia by Kimonis (2008)
  23. 10.1016/j.nmd.2010.03.002 / Neuromuscul. Disord. / Two Australian families with inclusion-body myopathy, Paget's disease of bone and frontotemporal dementia: Novel clinical and genetic findings by Kumar (2010)
  24. 10.1126/science.1166066 / Science / Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis by Kwiatkowski (2009)
  25. 10.1016/S1474-4422(10)70195-2 / Lancet Neurol. / TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia by Mackenzie (2010)
  26. 10.1126/science.1134108 / Science / Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis by Neumann (2006)
  27. 10.1038/nature08250 / Nature / Targeted capture and massively parallel sequencing of 12 human exomes by Ng (2009)
  28. 10.1038/ng.499 / Nat. Genet. / Exome sequencing identifies the cause of a mendelian disorder by Ng (2010)
  29. 10.1086/519795 / Am. J. Hum. Genet. / PLINK: A tool set for whole-genome association and population-based linkage analyses by Purcell (2007)
  30. 10.1523/JNEUROSCI.5894-09.2010 / J. Neurosci. / TDP-43 mediates degeneration in a novel Drosophila model of disease caused by mutations in VCP/p97 by Ritson (2010)
  31. 10.1038/362059a0 / Nature / Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis by Rosen (1993)
  32. 10.1056/NEJM200105313442207 / N. Engl. J. Med. / Amyotrophic lateral sclerosis by Rowland (2001)
  33. 10.1038/ng1661 / Nat. Genet. / Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse by Schmitt-John (2005)
  34. 10.1002/ana.20407 / Ann. Neurol. / Mutant valosin-containing protein causes a novel type of frontotemporal dementia by Schröder (2005)
  35. 10.1371/journal.pgen.1000991 / PLoS Genet. / Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene by Sobreira (2010)
  36. 10.1126/science.1154584 / Science / TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis by Sreedharan (2008)
  37. 10.1038/emboj.2010.104 / EMBO J. / A novel ATP-dependent conformation in p97 N-D1 fragment revealed by crystal structures of disease-related mutants by Tang (2010)
  38. 10.4161/auto.6.2.11014 / Autophagy / VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD by Tresse (2010)
  39. 10.1212/WNL.0b013e3181b389d9 / Neurology / Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His by van der Zee (2009)
  40. 10.1126/science.1165942 / Science / Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6 by Vance (2009)
  41. 10.1038/ng1332 / Nat. Genet. / Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein by Watts (2004)
  42. 10.1016/j.nmd.2009.01.009 / Neuromuscul. Disord. / Valosin-containing protein disease: Inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia by Weihl (2009)
Dates
Type When
Created 14 years, 8 months ago (Dec. 9, 2010, 10:21 a.m.)
Deposited 3 years, 10 months ago (Nov. 1, 2021, 10:54 a.m.)
Indexed 3 days, 12 hours ago (Sept. 3, 2025, 6:20 a.m.)
Issued 14 years, 9 months ago (Dec. 1, 2010)
Published 14 years, 9 months ago (Dec. 1, 2010)
Published Print 14 years, 9 months ago (Dec. 1, 2010)
Funders 0

None

@article{Johnson_2010, title={Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS}, volume={68}, ISSN={0896-6273}, url={http://dx.doi.org/10.1016/j.neuron.2010.11.036}, DOI={10.1016/j.neuron.2010.11.036}, number={5}, journal={Neuron}, publisher={Elsevier BV}, author={Johnson, Janel O. and Mandrioli, Jessica and Benatar, Michael and Abramzon, Yevgeniya and Van Deerlin, Vivianna M. and Trojanowski, John Q. and Gibbs, J. Raphael and Brunetti, Maura and Gronka, Susan and Wuu, Joanne and Ding, Jinhui and McCluskey, Leo and Martinez-Lage, Maria and Falcone, Dana and Hernandez, Dena G. and Arepalli, Sampath and Chong, Sean and Schymick, Jennifer C. and Rothstein, Jeffrey and Landi, Francesco and Wang, Yong-Dong and Calvo, Andrea and Mora, Gabriele and Sabatelli, Mario and Monsurrò, Maria Rosaria and Battistini, Stefania and Salvi, Fabrizio and Spataro, Rossella and Sola, Patrizia and Borghero, Giuseppe and Galassi, Giuliana and Scholz, Sonja W. and Taylor, J. Paul and Restagno, Gabriella and Chiò, Adriano and Traynor, Bryan J.}, year={2010}, month=dec, pages={857–864} }