Literature DB >> 24051371

REEPing the benefits of an animal model of hereditary spastic paraplegia.

Ariel Y Deutch, Peter Hedera, Roger J Colbran.   

Abstract

The hereditary spastic paraplegias (HSPs) are characterized by spasticity of the leg muscles due to axonal degeneration of corticospinal neurons. Beetz et al. report that the core motor phenotype and axonal pathology of HSPs are recapitulated in mice lacking the HSP-associated gene Reep1. REEP1 is shown to regulate ER structure in motor cortex neurons. The Reep1 knockout mouse should be a very useful model in which to study the mechanisms of progressive axon loss in HSPs and other disorders.

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Year:  2013        PMID： 24051371      PMCID： PMC3784552          DOI： 10.1172/JCI72324

Source DB:  PubMed          Journal:  J Clin Invest        ISSN： 0021-9738            Impact factor:   14.808


  19 in total

1.  Sir Charles Sherrington's the integrative action of the nervous system: a centenary appreciation.

Authors:  Robert E Burke
Journal:  Brain       Date:  2007-04       Impact factor: 13.501

2.  Autosomal dominant hereditary spastic paraparesis with cognitive loss linked to chromosome 2p.

Authors:  S Webb; D Coleman; P Byrne; N Parfrey; T Burke; J Hutchinson; M Hutchinson
Journal:  Brain       Date:  1998-04       Impact factor: 13.501

3.  A spastic paraplegia mouse model reveals REEP1-dependent ER shaping.

Authors:  Christian Beetz; Nicole Koch; Mukhran Khundadze; Geraldine Zimmer; Sandor Nietzsche; Nicole Hertel; Antje-Kathrin Huebner; Rizwan Mumtaz; Michaela Schweizer; Elisabeth Dirren; Kathrin N Karle; Andrey Irintchev; Victoria Alvarez; Christoph Redies; Martin Westermann; Ingo Kurth; Thomas Deufel; Michael M Kessels; Britta Qualmann; Christian A Hübner
Journal:  J Clin Invest       Date:  2013-09-24       Impact factor: 14.808

4.  Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.

Authors:  Stephan Züchner; Gaofeng Wang; Khanh-Nhat Tran-Viet; Martha A Nance; Perry C Gaskell; Jeffery M Vance; Allison E Ashley-Koch; Margaret A Pericak-Vance
Journal:  Am J Hum Genet       Date:  2006-05-26       Impact factor: 11.025

5.  Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation.

Authors:  K D White; P G Ince; M Lusher; J Lindsey; M Cookson; R Bashir; P J Shaw; K M Bushby
Journal:  Neurology       Date:  2000-07-12       Impact factor: 9.910

Review 6.  Hereditary spastic paraplegias: an update.

Authors:  Christel Depienne; Giovanni Stevanin; Alexis Brice; Alexandra Durr
Journal:  Curr Opin Neurol       Date:  2007-12       Impact factor: 5.710

7.  Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia.

Authors:  S Sauter; B Miterski; S Klimpe; D Bönsch; L Schöls; A Visbeck; T Papke; H C Hopf; W Engel; T Deufel; J T Epplen; J Neesen
Journal:  Hum Mutat       Date:  2002-08       Impact factor: 4.878

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

9.  Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31).

Authors:  Katharina J Schlang; Larissa Arning; Joerg T Epplen; Susanne Stemmler
Journal:  BMC Med Genet       Date:  2008-07-21       Impact factor: 2.103

10.  The extent of axonal loss in the long tracts in hereditary spastic paraplegia.

Authors:  G C Deluca; G C Ebers; M M Esiri
Journal:  Neuropathol Appl Neurobiol       Date:  2004-12       Impact factor: 8.090
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  3 in total

1.  Hereditary spastic paraplegia-linked REEP1 modulates endoplasmic reticulum/mitochondria contacts.

Authors:  Youngshin Lim; Il-Taeg Cho; Leah J Schoel; Ginam Cho; Jeffrey A Golden
Journal:  Ann Neurol       Date:  2015-09-16       Impact factor: 10.422

Review 2.  Complexity of Generating Mouse Models to Study the Upper Motor Neurons: Let Us Shift Focus from Mice to Neurons.

Authors:  Baris Genc; Oge Gozutok; P Hande Ozdinler
Journal:  Int J Mol Sci       Date:  2019-08-07       Impact factor: 5.923

3.  Inhibition of ER stress improves progressive motor deficits in a REEP1-null mouse model of hereditary spastic paraplegia.

Authors:  Bingjie Wang; You Yu; Lai Wei; Yan Zhang
Journal:  Biol Open       Date:  2020-09-29       Impact factor: 2.422
  3 in total

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