Literature DB >> 12076672

The molecular bases of spinal muscular atrophy.

Tony Frugier1, Sophie Nicole, Carmen Cifuentes-Diaz, Judith Melki.   

Abstract

Spinal muscular atrophy (SMA) is a common recessive autosomal disorder characterized by degeneration of motor neurons of the spinal cord. SMA is caused by mutations of the survival of motor neuron gene that encodes a multifunctional protein, and mouse models have been generated. These advances represent starting points towards an understanding of the pathophysiology of this disease and the design of therapeutic strategies in SMA.

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Year:  2002        PMID： 12076672     DOI： 10.1016/s0959-437x(02)00301-5

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


  37 in total

1.  IPLEX administration improves motor neuron survival and ameliorates motor functions in a severe mouse model of spinal muscular atrophy.

Authors:  Michela Murdocca; Arianna Malgieri; Andrea Luchetti; Luciano Saieva; Gabriella Dobrowolny; Elvira de Leonibus; Antonio Filareto; Maria Chiara Quitadamo; Giuseppe Novelli; Antonio Musarò; Federica Sangiuolo
Journal:  Mol Med       Date:  2012-09-25       Impact factor: 6.354

2.  Reorganization of Cajal bodies and nucleolar targeting of coilin in motor neurons of type I spinal muscular atrophy.

Authors:  Olga Tapia; Rocío Bengoechea; Ana Palanca; Rosa Arteaga; J Fernando Val-Bernal; Eduardo F Tizzano; María T Berciano; Miguel Lafarga
Journal:  Histochem Cell Biol       Date:  2012-02-01       Impact factor: 4.304

3.  Gemin proteins are required for efficient assembly of Sm-class ribonucleoproteins.

Authors:  Karl B Shpargel; A Gregory Matera
Journal:  Proc Natl Acad Sci U S A       Date:  2005-11-21       Impact factor: 11.205

Review 4.  Inflammation in ALS and SMA: sorting out the good from the evil.

Authors:  Dimitra Papadimitriou; Virginia Le Verche; Arnaud Jacquier; Burcin Ikiz; Serge Przedborski; Diane B Re
Journal:  Neurobiol Dis       Date:  2009-10-13       Impact factor: 5.996

5.  Depletion of hCINAP by RNA interference causes defects in Cajal body formation, histone transcription, and cell viability.

Authors:  Jinfang Zhang; Feiyun Zhang; Xiaofeng Zheng
Journal:  Cell Mol Life Sci       Date:  2010-02-26       Impact factor: 9.261

6.  Refined characterization of the expression and stability of the SMN gene products.

Authors:  Jérémie Vitte; Coralie Fassier; Francesco D Tiziano; Cécile Dalard; Sabrina Soave; Natacha Roblot; Christine Brahe; Pascale Saugier-Veber; Jean Paul Bonnefont; Judith Melki
Journal:  Am J Pathol       Date:  2007-08-23       Impact factor: 4.307

Review 7.  The wobbler mouse: a neurodegeneration jigsaw puzzle.

Authors:  Séverine Boillée; Marc Peschanski; Marie-Pierre Junier
Journal:  Mol Neurobiol       Date:  2003-08       Impact factor: 5.590

8.  Inhibition of U snRNP assembly by a virus-encoded proteinase.

Authors:  Laura L Almstead; Peter Sarnow
Journal:  Genes Dev       Date:  2007-05-01       Impact factor: 11.361

9.  Reduced levels of survival motor neuron protein leads to aberrant motoneuron growth in a Xenopus model of muscular atrophy.

Authors:  Qods Ymlahi-Ouazzani; Odile J Bronchain; Elodie Paillard; Chantal Ballagny; Albert Chesneau; Aurélie Jadaud; André Mazabraud; Nicolas Pollet
Journal:  Neurogenetics       Date:  2009-06-11       Impact factor: 2.660

10.  A feedback loop regulates splicing of the spinal muscular atrophy-modifying gene, SMN2.

Authors:  Francine M Jodelka; Allison D Ebert; Dominik M Duelli; Michelle L Hastings
Journal:  Hum Mol Genet       Date:  2010-09-30       Impact factor: 6.150
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