Literature DB >> 21139634

Hereditary spastic paraplegias: membrane traffic and the motor pathway.

Craig Blackstone1, Cahir J O'Kane, Evan Reid.   

Abstract

Voluntary movement is a fundamental way in which animals respond to, and interact with, their environment. In mammals, the main CNS pathway controlling voluntary movement is the corticospinal tract, which encompasses connections between the cerebral motor cortex and the spinal cord. Hereditary spastic paraplegias (HSPs) are a group of genetic disorders that lead to a length-dependent, distal axonopathy of fibres of the corticospinal tract, causing lower limb spasticity and weakness. Recent work aimed at elucidating the molecular cell biology underlying the HSPs has revealed the importance of basic cellular processes — especially membrane trafficking and organelle morphogenesis and distribution— in axonal maintenance and degeneration.

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Year:  2011        PMID: 21139634      PMCID: PMC5584382          DOI: 10.1038/nrn2946

Source DB:  PubMed          Journal:  Nat Rev Neurosci        ISSN: 1471-003X            Impact factor:   34.870


  117 in total

1.  wishful thinking encodes a BMP type II receptor that regulates synaptic growth in Drosophila.

Authors:  Hermann Aberle; A Pejmun Haghighi; Richard D Fetter; Brian D McCabe; Tiago R Magalhães; Corey S Goodman
Journal:  Neuron       Date:  2002-02-14       Impact factor: 17.173

2.  The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B.

Authors:  Evan Reid; James Connell; Thomas L Edwards; Simon Duley; Stephanie E Brown; Christopher M Sanderson
Journal:  Hum Mol Genet       Date:  2004-11-10       Impact factor: 6.150

3.  The microtubule-severing proteins spastin and katanin participate differently in the formation of axonal branches.

Authors:  Wenqian Yu; Liang Qiang; Joanna M Solowska; Arzu Karabay; Sirin Korulu; Peter W Baas
Journal:  Mol Biol Cell       Date:  2008-01-30       Impact factor: 4.138

Review 4.  Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms.

Authors:  Sara Salinas; Christos Proukakis; Andrew Crosby; Thomas T Warner
Journal:  Lancet Neurol       Date:  2008-12       Impact factor: 44.182

5.  Degradation of Id2 by the anaphase-promoting complex couples cell cycle exit and axonal growth.

Authors:  Anna Lasorella; Judith Stegmüller; Daniele Guardavaccaro; Guangchao Liu; Maria S Carro; Gerson Rothschild; Luis de la Torre-Ubieta; Michele Pagano; Azad Bonni; Antonio Iavarone
Journal:  Nature       Date:  2006-06-28       Impact factor: 49.962

6.  Troyer syndrome protein spartin is mono-ubiquitinated and functions in EGF receptor trafficking.

Authors:  Joanna C Bakowska; Henri Jupille; Parvin Fatheddin; Rosa Puertollano; Craig Blackstone
Journal:  Mol Biol Cell       Date:  2007-03-01       Impact factor: 4.138

7.  Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity.

Authors:  Bettina Ebbing; Klaudiusz Mann; Agata Starosta; Johann Jaud; Ludger Schöls; Rebecca Schüle; Günther Woehlke
Journal:  Hum Mol Genet       Date:  2008-01-18       Impact factor: 6.150

8.  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

9.  The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling.

Authors:  Hilda T H Tsang; Thomas L Edwards; Xinnan Wang; James W Connell; Rachel J Davies; Hannah J Durrington; Cahir J O'Kane; J Paul Luzio; Evan Reid
Journal:  Hum Mol Genet       Date:  2009-07-20       Impact factor: 6.150

10.  A role for ubiquitin ligases and Spartin/SPG20 in lipid droplet turnover.

Authors:  Scott W Eastman; Mina Yassaee; Paul D Bieniasz
Journal:  J Cell Biol       Date:  2009-03-23       Impact factor: 10.539

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  141 in total

1.  Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation.

Authors:  Jaerak Chang; Seongju Lee; Craig Blackstone
Journal:  J Clin Invest       Date:  2014-11-03       Impact factor: 14.808

2.  Characterization of Alu and recombination-associated motifs mediating a large homozygous SPG7 gene rearrangement causing hereditary spastic paraplegia.

Authors:  Eva López; Carlos Casasnovas; Javier Giménez; Antoni Matilla-Dueñas; Ivelisse Sánchez; Víctor Volpini
Journal:  Neurogenetics       Date:  2014-11-16       Impact factor: 2.660

Review 3.  Genetic [corrected] insights into the causes and classification of [corrected] cerebral palsies.

Authors:  Andres Moreno-De-Luca; David H Ledbetter; Christa L Martin
Journal:  Lancet Neurol       Date:  2012-01-18       Impact factor: 44.182

Review 4.  Unconventional functions of microtubule motors.

Authors:  Virgil Muresan; Zoia Muresan
Journal:  Arch Biochem Biophys       Date:  2012-01-28       Impact factor: 4.013

5.  Characterization of maspardin, responsible for human Mast syndrome, in an insect species and analysis of its evolution in metazoans.

Authors:  Thomas Chertemps; Nicolas Montagné; Françoise Bozzolan; Annick Maria; Nicolas Durand; Martine Maïbèche-Coisne
Journal:  Naturwissenschaften       Date:  2012-06-23

Review 6.  The axonal transport of mitochondria.

Authors:  William M Saxton; Peter J Hollenbeck
Journal:  J Cell Sci       Date:  2012-05-22       Impact factor: 5.285

7.  Reep1 null mice reveal a converging role for hereditary spastic paraplegia proteins in lipid droplet regulation.

Authors:  Benoît Renvoisé; Brianna Malone; Melanie Falgairolle; Jeeva Munasinghe; Julia Stadler; Caroline Sibilla; Seong H Park; Craig Blackstone
Journal:  Hum Mol Genet       Date:  2016-12-01       Impact factor: 6.150

8.  A hereditary spastic paraplegia-associated atlastin variant exhibits defective allosteric coupling in the catalytic core.

Authors:  John P O'Donnell; Laura J Byrnes; Richard B Cooley; Holger Sondermann
Journal:  J Biol Chem       Date:  2017-11-27       Impact factor: 5.157

9.  Impaired mitochondrial dynamics underlie axonal defects in hereditary spastic paraplegias.

Authors:  Kyle Denton; Yongchao Mou; Chong-Chong Xu; Dhruvi Shah; Jaerak Chang; Craig Blackstone; Xue-Jun Li
Journal:  Hum Mol Genet       Date:  2018-07-15       Impact factor: 6.150

10.  Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.

Authors:  Stephan Klebe; Christel Depienne; Sylvie Gerber; Georges Challe; Mathieu Anheim; Perrine Charles; Estelle Fedirko; Elodie Lejeune; Julien Cottineau; Alfredo Brusco; Hélène Dollfus; Patrick F Chinnery; Cecilia Mancini; Xavier Ferrer; Guilhem Sole; Alain Destée; Jean-Michel Mayer; Bertrand Fontaine; Jérôme de Seze; Michel Clanet; Elisabeth Ollagnon; Philippe Busson; Cécile Cazeneuve; Giovanni Stevanin; Josseline Kaplan; Jean-Michel Rozet; Alexis Brice; Alexandra Durr
Journal:  Brain       Date:  2012-10       Impact factor: 13.501

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