Literature DB >> 12355399

Is the transportation highway the right road for hereditary spastic paraplegia?

Andrew H Crosby, Christos Proukakis.   

Abstract

The term "hereditary spastic paraplegia" (HSP) refers to a genetically and clinically diverse group of disorders whose primary feature is progressive spasticity of the lower extremities. The condition arises because of degeneration of the longest motor and sensory axons on the spinal cord, which appear to be most sensitive to the underlying mutations. The marked genetic heterogeneity in HSP, with 20 loci chromosomally mapped and eight genes now identified, suggests that a number of defective cellular processes may be shown to result in the disease. Although previous studies have suggested a mitochondrial basis for at least one form of the disease, a mechanism common to a number of the other genes mutated in HSP has remained elusive until now. The identification of the most recent genes for the condition suggests that aberrant cellular-trafficking dynamics may be a common process responsible for the specific pattern of neurodegeneration seen in HSP.

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Year:  2002        PMID: 12355399      PMCID: PMC385081          DOI: 10.1086/344206

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


  50 in total

1.  Dynamics of tubulovesicular recycling endosomes in hippocampal neurons.

Authors:  R Prekeris; D L Foletti; R H Scheller
Journal:  J Neurosci       Date:  1999-12-01       Impact factor: 6.167

Review 2.  The dynamin family of mechanoenzymes: pinching in new places.

Authors:  M A McNiven; H Cao; K R Pitts; Y Yoon
Journal:  Trends Biochem Sci       Date:  2000-03       Impact factor: 13.807

Review 3.  Microtubule-based transport systems in neurons: the roles of kinesins and dyneins.

Authors:  L S Goldstein; Z Yang
Journal:  Annu Rev Neurosci       Date:  2000       Impact factor: 12.449

Review 4.  Hereditary spastic paraparesis: a review of new developments.

Authors:  C McDermott; K White; K Bushby; P Shaw
Journal:  J Neurol Neurosurg Psychiatry       Date:  2000-08       Impact factor: 10.154

5.  ATPase-defective mammalian VPS4 localizes to aberrant endosomes and impairs cholesterol trafficking.

Authors:  N Bishop; P Woodman
Journal:  Mol Biol Cell       Date:  2000-01       Impact factor: 4.138

6.  Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.

Authors:  J Hazan; N Fonknechten; D Mavel; C Paternotte; D Samson; F Artiguenave; C S Davoine; C Cruaud; A Dürr; P Wincker; P Brottier; L Cattolico; V Barbe; J M Burgunder; J F Prud'homme; A Brice; B Fontaine; B Heilig; J Weissenbach
Journal:  Nat Genet       Date:  1999-11       Impact factor: 38.330

7.  Overexpression of a novel sorting nexin, SNX15, affects endosome morphology and protein trafficking.

Authors:  V A Barr; S A Phillips; S I Taylor; C R Haft
Journal:  Traffic       Date:  2000-11       Impact factor: 6.215

8.  The mouse SKD1, a homologue of yeast Vps4p, is required for normal endosomal trafficking and morphology in mammalian cells.

Authors:  T Yoshimori; F Yamagata; A Yamamoto; N Mizushima; Y Kabeya; A Nara; I Miwako; M Ohashi; M Ohsumi; Y Ohsumi
Journal:  Mol Biol Cell       Date:  2000-02       Impact factor: 4.138

9.  Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.

Authors:  N Fonknechten; D Mavel; P Byrne; C S Davoine; C Cruaud; D Bönsch; D Boentsch; D Samson; P Coutinho; M Hutchinson; P McMonagle; J M Burgunder; A Tartaglione; O Heinzlef; I Feki; T Deufel; N Parfrey; A Brice; B Fontaine; J F Prud'homme; J Weissenbach; A Dürr; J Hazan
Journal:  Hum Mol Genet       Date:  2000-03-01       Impact factor: 6.150

10.  X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus.

Authors:  P Saugier-Veber; A Munnich; D Bonneau; J M Rozet; M Le Merrer; R Gil; O Boespflug-Tanguy
Journal:  Nat Genet       Date:  1994-03       Impact factor: 38.330

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  38 in total

1.  Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia.

Authors:  Michael A Simpson; Harold Cross; Christos Proukakis; Anna Pryde; Ruth Hershberger; Arnaud Chatonnet; Michael A Patton; Andrew H Crosby
Journal:  Am J Hum Genet       Date:  2003-10-16       Impact factor: 11.025

2.  A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia.

Authors:  Johanna A Reed; Phillip A Wilkinson; Heema Patel; Michael A Simpson; Arnaud Chatonnet; Dimitri Robay; Michael A Patton; Andrew H Crosby; Thomas T Warner
Journal:  Neurogenetics       Date:  2005-02-12       Impact factor: 2.660

3.  A novel locus for autosomal recessive spastic ataxia on chromosome 17p.

Authors:  Naima Bouslam; Ahmed Bouhouche; Ali Benomar; Sylvain Hanein; Stephan Klebe; Hamid Azzedine; Silvia Di Giandomenico; Anne Boland-Augé; Filippo M Santorelli; Alexandra Durr; Alexis Brice; Mohamed Yahyaoui; Giovanni Stevanin
Journal:  Hum Genet       Date:  2007-02-02       Impact factor: 4.132

Review 4.  Axonal transport defects in neurodegenerative diseases.

Authors:  Gerardo A Morfini; Matthew Burns; Lester I Binder; Nicholas M Kanaan; Nichole LaPointe; Daryl A Bosco; Robert H Brown; Hannah Brown; Ashutosh Tiwari; Lawrence Hayward; Julia Edgar; Klaus-Armin Nave; James Garberrn; Yuka Atagi; Yuyu Song; Gustavo Pigino; Scott T Brady
Journal:  J Neurosci       Date:  2009-10-14       Impact factor: 6.167

5.  Cerebral metabolic and structural alterations in hereditary spastic paraplegia with thin corpus callosum assessed by MRS and DTI.

Authors:  Steffi Dreha-Kulaczewski; Peter Dechent; Gunther Helms; Jens Frahm; Jutta Gärtner; Knut Brockmann
Journal:  Neuroradiology       Date:  2006-09-30       Impact factor: 2.804

Review 6.  Control of mitochondrial integrity in ageing and disease.

Authors:  Radek Szklarczyk; Marco Nooteboom; Heinz D Osiewacz
Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  2014-07-05       Impact factor: 6.237

7.  Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations.

Authors:  Ingrid K Svenson; Mark T Kloos; P Craig Gaskell; Martha A Nance; James Y Garbern; Shin-ichi Hisanaga; Margaret A Pericak-Vance; Allison E Ashley-Koch; Douglas A Marchuk
Journal:  Neurogenetics       Date:  2004-07-10       Impact factor: 2.660

8.  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

9.  Spartin activates atrophin-1-interacting protein 4 (AIP4) E3 ubiquitin ligase and promotes ubiquitination of adipophilin on lipid droplets.

Authors:  Christopher Hooper; Swamy S Puttamadappa; Zak Loring; Alexander Shekhtman; Joanna C Bakowska
Journal:  BMC Biol       Date:  2010-05-26       Impact factor: 7.431

10.  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

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