Literature DB >> 11377972

Molecular basis of inherited spastic paraplegias.

G Casari1, E Rugarli.   

Abstract

Recently, paraplegin and spastin have been found to be mutated in two autosomal forms of hereditary spastic paraplegia. Both proteins harbour a common ATPase domain that expresses a chaperone function. Paraplegin is a nuclear-encoded mitochondrial metalloprotease, while the exact role and subcellular localisation of spastin are still unclear.

Entities:  

Mesh：

Substances：

Year:  2001        PMID： 11377972     DOI： 10.1016/s0959-437x(00)00199-4

Source DB:  PubMed          Journal:  Curr Opin Genet Dev        ISSN： 0959-437X            Impact factor:   5.578


  11 in total

1.  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 2.  Is the transportation highway the right road for hereditary spastic paraplegia?

Authors:  Andrew H Crosby; Christos Proukakis
Journal:  Am J Hum Genet       Date:  2002-09-24       Impact factor: 11.025

3.  A locus for autosomal dominant hereditary spastic ataxia, SAX1, maps to chromosome 12p13.

Authors:  I A Meijer; C K Hand; K K Grewal; M G Stefanelli; E J Ives; G A Rouleau
Journal:  Am J Hum Genet       Date:  2001-12-31       Impact factor: 11.025

4.  Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60.

Authors:  Jens Jacob Hansen; Alexandra Dürr; Isabelle Cournu-Rebeix; Costa Georgopoulos; Debbie Ang; Marit Nyholm Nielsen; Claire-Sophie Davoine; Alexis Brice; Bertrand Fontaine; Niels Gregersen; Peter Bross
Journal:  Am J Hum Genet       Date:  2002-03-15       Impact factor: 11.025

5.  Role of spastin in apical domain control along the rhabdomere elongation in Drosophila photoreceptor.

Authors:  Geng Chen; Garrett P League; Sang-Chul Nam
Journal:  PLoS One       Date:  2010-03-03       Impact factor: 3.240

6.  Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration.

Authors:  Maria K Tsaousidou; Karim Ouahchi; Tom T Warner; Yi Yang; Michael A Simpson; Nigel G Laing; Philip A Wilkinson; Ricardo E Madrid; Heema Patel; Faycal Hentati; Michael A Patton; Afif Hentati; Philippa J Lamont; Teepu Siddique; Andrew H Crosby
Journal:  Am J Hum Genet       Date:  2008-01-18       Impact factor: 11.025

7.  Identification of the Drosophila melanogaster homolog of the human spastin gene.

Authors:  Lars Kammermeier; Jürg Spring; Michael Stierwald; Jean-Marc Burgunder; Heinrich Reichert
Journal:  Dev Genes Evol       Date:  2003-06-07       Impact factor: 0.900

8.  SPG20 protein spartin associates with cardiolipin via its plant-related senescence domain and regulates mitochondrial Ca2+ homeostasis.

Authors:  Dinesh C Joshi; Joanna C Bakowska
Journal:  PLoS One       Date:  2011-04-29       Impact factor: 3.240

Review 9.  Inherited mitochondrial optic neuropathies.

Authors:  P Yu-Wai-Man; P G Griffiths; G Hudson; P F Chinnery
Journal:  J Med Genet       Date:  2008-11-10       Impact factor: 6.318

10.  Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport.

Authors:  Fatima Ferreirinha; Angelo Quattrini; Marinella Pirozzi; Valentina Valsecchi; Giorgia Dina; Vania Broccoli; Alberto Auricchio; Fiorella Piemonte; Giulia Tozzi; Laura Gaeta; Giorgio Casari; Andrea Ballabio; Elena I Rugarli
Journal:  J Clin Invest       Date:  2004-01       Impact factor: 14.808
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.