Literature DB >> 17661726

The genetics of hereditary spastic paraplegia and implications for drug therapy.

Stephan Züchner1.   

Abstract

Hereditary spastic paraplegia (HSP) comprises a group of clinically and genetically heterogeneous diseases that affect the upper motor neurons and their axonal projections. A total of 30 chromosomal loci have been identified for autosomal dominant, recessive and X-linked HSP. The underlying genes for 15 of these loci have been described. The molecular dissection of the cellular functions of the related gene products has already greatly advanced our understanding of the most critical pathways involved in HSP. It is hoped that in the foreseeable future this knowledge will begin to translate into novel pharmacological approaches for this devastating disease.

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Year:  2007        PMID: 17661726     DOI: 10.1517/14656566.8.10.1433

Source DB:  PubMed          Journal:  Expert Opin Pharmacother        ISSN: 1465-6566            Impact factor:   3.889


  8 in total

1.  The effect of HSP-causing mutations in SPG3A and NIPA1 on the assembly, trafficking, and interaction between atlastin-1 and NIPA1.

Authors:  Emmanuel J Botzolakis; Jiali Zhao; Katharine N Gurba; Robert L Macdonald; Peter Hedera
Journal:  Mol Cell Neurosci       Date:  2010-09-21       Impact factor: 4.314

2.  Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network.

Authors:  Seong H Park; Peng-Peng Zhu; Rell L Parker; Craig Blackstone
Journal:  J Clin Invest       Date:  2010-04       Impact factor: 14.808

3.  Targeted disruption of the Mast syndrome gene SPG21 in mice impairs hind limb function and alters axon branching in cultured cortical neurons.

Authors:  Cynthia Soderblom; Julia Stadler; Henri Jupille; Craig Blackstone; Oleg Shupliakov; Michael C Hanna
Journal:  Neurogenetics       Date:  2010-07-27       Impact factor: 2.660

4.  Interaction of the SPG21 protein ACP33/maspardin with the aldehyde dehydrogenase ALDH16A1.

Authors:  Michael C Hanna; Craig Blackstone
Journal:  Neurogenetics       Date:  2009-01-31       Impact factor: 2.660

5.  Hereditary spastic paraplegia-causing mutations in atlastin-1 interfere with BMPRII trafficking.

Authors:  Jiali Zhao; Peter Hedera
Journal:  Mol Cell Neurosci       Date:  2012-10-16       Impact factor: 4.314

6.  Atlastin GTPases are required for Golgi apparatus and ER morphogenesis.

Authors:  Neggy Rismanchi; Cynthia Soderblom; Julia Stadler; Peng-Peng Zhu; Craig Blackstone
Journal:  Hum Mol Genet       Date:  2008-02-12       Impact factor: 6.150

7.  Hereditary spastic paraplegia-associated mutations in the NIPA1 gene and its Caenorhabditis elegans homolog trigger neural degeneration in vitro and in vivo through a gain-of-function mechanism.

Authors:  Jiali Zhao; Dawn S Matthies; Emmanuel J Botzolakis; Robert L Macdonald; Randy D Blakely; Peter Hedera
Journal:  J Neurosci       Date:  2008-12-17       Impact factor: 6.167

8.  REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.

Authors:  Christian Beetz; Rebecca Schüle; Tine Deconinck; Khanh-Nhat Tran-Viet; Hui Zhu; Berry P H Kremer; Suzanna G M Frints; Wendy A G van Zelst-Stams; Paula Byrne; Susanne Otto; Anders O H Nygren; Jonathan Baets; Katrien Smets; Berten Ceulemans; Bernard Dan; Narasimhan Nagan; Jan Kassubek; Sven Klimpe; Thomas Klopstock; Henning Stolze; Hubert J M Smeets; Constance T R M Schrander-Stumpel; Michael Hutchinson; Bart P van de Warrenburg; Corey Braastad; Thomas Deufel; Margaret Pericak-Vance; Ludger Schöls; Peter de Jonghe; Stephan Züchner
Journal:  Brain       Date:  2008-03-05       Impact factor: 13.501

  8 in total

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