Movatterモバイル変換

[0]ホーム
URL:

Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

Advertisement

Nature Genetics
  • Brief Communication
  • Published:

Mutations inNHLRC1 cause progressive myoclonus epilepsy

Nature Geneticsvolume 35, pages125–127 (2003)Cite this article

Abstract

Lafora progressive myoclonus epilepsy is characterized by pathognomonic endoplasmic reticulum (ER)-associated polyglucosan accumulations. We previously discovered that mutations inEPM2A cause Lafora disease. Here, we identify a second gene associated with this disease,NHLRC1 (also calledEPM2B), which encodes malin, a putative E3 ubiquitin ligase with a RING finger domain and six NHL motifs. Laforin and malin colocalize to the ER, suggesting they operate in a related pathway protecting against polyglucosan accumulation and epilepsy.

This is a preview of subscription content,access via your institution

Access options

Access through your institution

Subscription info for Japanese customers

We have a dedicated website for our Japanese customers. Please go tonatureasia.com to subscribe to this journal.

Buy this article

  • Purchase on SpringerLink
  • Instant access to full article PDF

Prices may be subject to local taxes which are calculated during checkout

Figure 1: Identification of the gene associated with Lafora disease.

Similar content being viewed by others

Accession codes

Accessions

GenBank/EMBL/DDBJ

References

  1. Lafora, G.R. & Gluck, B.Z. Ges. Neurol. Psychiat.6, 1–14 (1911).

    Article  Google Scholar 

  2. Minassian, B.A.Adv. Neurol.89, 199–210 (2002).

    PubMed  Google Scholar 

  3. Minassian, B.A. et al.Ann. Neurol.45, 262–265 (1999).

    Article CAS  Google Scholar 

  4. Minassian, B.A. et al.Nat. Genet.20, 171–174 (1998).

    Article CAS  Google Scholar 

  5. Chan, E.M. et al.J. Med. Genet.40, 671–675 (2003).

    Article CAS  Google Scholar 

  6. Freemont, P.S.Curr. Biol.10, R84–R87 (2000).

    Article CAS  Google Scholar 

  7. Hatakeyama, S. & Nakayama, K.I.Biochem. Biophys. Res. Commun.302, 635–645 (2003).

    Article CAS  Google Scholar 

  8. Slack, F.J. & Ruvkun, G.Trends Biochem. Sci.23, 474–475 (1998).

    Article CAS  Google Scholar 

  9. Cavanagh, J.B.Brain Res. Brain Res. Rev.29, 265–295 (1999).

    Article CAS  Google Scholar 

  10. Ganesh, S. et al.Hum. Mol. Genet.9, 2251–2261 (2000).

    Article CAS  Google Scholar 

  11. Minassian, B.A. et al.Ann. Neurol.49, 271–275 (2001).

    Article CAS  Google Scholar 

  12. Ganesh, S., Suzuki, T. & Yamakawa, K.Biochem. Biophys. Res. Commun.291, 1134–1137 (2002).

    Article CAS  Google Scholar 

  13. Ganesh, S. et al.Hum. Mol. Genet.11, 1251–1262 (2002).

    Article CAS  Google Scholar 

  14. Ianzano, L., Zhao, X.C., Minassian, B.A. & Scherer, S.W.Genomics81, 579–587 (2003).

    Article CAS  Google Scholar 

  15. Ganesh, S. et al.Hum. Mol. Genet. advance online publication, 29 July 2003 (doi:10.1093/hmg/ddg253).

Download references

Acknowledgements

We thank members of The Centre for Applied Genomics (http://tcag.bioinfo.sickkids.on.ca/) for assistance, notably A. Paterson and D. Bulman; the families with Lafora disease for support; and L. Palm, A. Prasad, D. Buckley, T. Minett, W. Bara-Jimenez, L. Jardim and J.M. Saraiva, who contributed single cases. This work was funded by the Canadian Institutes of Health Research, the Canadian Genetic Diseases Network, Genome Canada and the Hospital for Sick Children Foundation. L.I. is supported by the Comitato Telethon Fondazione Onlus. S.W.S. is an Investigator of CIHR and International Scholar of the Howard Hughes Medical Institute.

Author information

Author notes

  1. Berge A Minassian and Stephen W Scherer: These authors contributed equally to this work.

Authors and Affiliations

  1. Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, 555 University Avenue, Toronto, M5G 1X8, Ontario, Canada

    Elayne M Chan, Edwin J Young, Leonarda Ianzano, Iulia Munteanu, Xiaochu Zhao, Constantine C Christopoulos, Berge A Minassian & Stephen W Scherer

  2. Department of Molecular and Medical Genetics, University of Toronto, Canada

    Elayne M Chan & Stephen W Scherer

  3. Instituto Nazionale Neurologico, Besta, Via Celoria, Milano, 11 20133, Italy

    Giuliano Avanzini

  4. Department of Neurology, Oasi Institute for Research on Mental Retardation and Brain Aging, Via Conte Ruggero, Troina, 73 94018, Italy

    Maurizio Elia

  5. Department of Pathology and Laboratory Medicine, The Hospital for Sick Children, 555 University Avenue, Toronto, M5G 1X8, Ontario, Canada

    Cameron A Ackerley

  6. Clinic of Neurology and Psychiatry for Children and Youth, Dr Subotica 6a St., Belgrade, 11 000, Serbia & Montenegro

    Nebojsa J Jovic

  7. Department of Neurosciences, King Faisal Specialist Hospital & Research Centre, P.O. Box 3354, Riyadh, 11211, Saudi Arabia

    Saeed Bohlega

  8. Neurogenetics Unit, Montreal Neurological Institute, McGill University, 3801 University St., Montreal, H3A 2B4, Quebec, Canada

    Eva Andermann

  9. McGill University Health Centre Research Institute Centre for Research in Neuroscience, Montreal General Hospital, 1650 Cedar Ave., Montreal, H3G 1A4, Quebec, Canada

    Guy A Rouleau

  10. Department of Neurology and Brain Research Institute, Comprehensive Epilepsy Program, University of California, Los Angeles School of Medicine, West Los Angeles DVA Medical Center, 11301 Wilshire Blvd., Los Angeles, 90073, California, USA

    Antonio V Delgado-Escueta

  11. Division of Neurology, Department of Pediatrics, The Hospital for Sick Children and University of Toronto, 555 University Ave., Toronto, M5G 1X8, Ontario, Canada

    Berge A Minassian

Authors
  1. Elayne M Chan

    You can also search for this author inPubMed Google Scholar

  2. Edwin J Young

    You can also search for this author inPubMed Google Scholar

  3. Leonarda Ianzano

    You can also search for this author inPubMed Google Scholar

  4. Iulia Munteanu

    You can also search for this author inPubMed Google Scholar

  5. Xiaochu Zhao

    You can also search for this author inPubMed Google Scholar

  6. Constantine C Christopoulos

    You can also search for this author inPubMed Google Scholar

  7. Giuliano Avanzini

    You can also search for this author inPubMed Google Scholar

  8. Maurizio Elia

    You can also search for this author inPubMed Google Scholar

  9. Cameron A Ackerley

    You can also search for this author inPubMed Google Scholar

  10. Nebojsa J Jovic

    You can also search for this author inPubMed Google Scholar

  11. Saeed Bohlega

    You can also search for this author inPubMed Google Scholar

  12. Eva Andermann

    You can also search for this author inPubMed Google Scholar

  13. Guy A Rouleau

    You can also search for this author inPubMed Google Scholar

  14. Antonio V Delgado-Escueta

    You can also search for this author inPubMed Google Scholar

  15. Berge A Minassian

    You can also search for this author inPubMed Google Scholar

  16. Stephen W Scherer

    You can also search for this author inPubMed Google Scholar

Corresponding authors

Correspondence toBerge A Minassian orStephen W Scherer.

Ethics declarations

Competing interests

The authors declare no competing financial interests.

Rights and permissions

About this article

Cite this article

Chan, E., Young, E., Ianzano, L.et al. Mutations inNHLRC1 cause progressive myoclonus epilepsy.Nat Genet35, 125–127 (2003). https://doi.org/10.1038/ng1238

Download citation

Access through your institution
Buy or subscribe

Advertisement

Search

Advanced search

Quick links

Nature Briefing

Sign up for theNature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox.Sign up for Nature Briefing
[8]ページ先頭
©2009-2025 Movatter.jp