Literature DB >> 15508913

Progressive myoclonus epilepsies: EPM1, EPM2A, EPM2B.

Elayne M Chan1, Danielle M Andrade, Silvana Franceschetti, Berge Minassian.   

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Year:  2005        PMID: 15508913

Source DB:  PubMed          Journal:  Adv Neurol        ISSN: 0091-3952


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  12 in total

1.  Glycogen metabolism in tissues from a mouse model of Lafora disease.

Authors:  Wei Wang; Hannes Lohi; Alexander V Skurat; Anna A DePaoli-Roach; Berge A Minassian; Peter J Roach
Journal:  Arch Biochem Biophys       Date:  2006-11-03       Impact factor: 4.013

Review 2.  Glycogen and its metabolism: some new developments and old themes.

Authors:  Peter J Roach; Anna A Depaoli-Roach; Thomas D Hurley; Vincent S Tagliabracci
Journal:  Biochem J       Date:  2012-02-01       Impact factor: 3.857

3.  Relationship between glycogen accumulation and the laforin dual specificity phosphatase.

Authors:  Wei Wang; Gretchen E Parker; Alexander V Skurat; Nina Raben; Anna A DePaoli-Roach; Peter J Roach
Journal:  Biochem Biophys Res Commun       Date:  2006-09-26       Impact factor: 3.575

Review 4.  Advances in lafora progressive myoclonus epilepsy.

Authors:  Antonio V Delgado-Escueta
Journal:  Curr Neurol Neurosci Rep       Date:  2007-09       Impact factor: 5.081

5.  Abnormal metabolism of glycogen phosphate as a cause for Lafora disease.

Authors:  Vincent S Tagliabracci; Jean Marie Girard; Dyann Segvich; Catalina Meyer; Julie Turnbull; Xiaochu Zhao; Berge A Minassian; Anna A Depaoli-Roach; Peter J Roach
Journal:  J Biol Chem       Date:  2008-10-13       Impact factor: 5.157

6.  Deletions and missense mutations of EPM2A exacerbate unfolded protein response and apoptosis of neuronal cells induced by endoplasm reticulum stress.

Authors:  Yan Liu; Yin Wang; Cindy Wu; Yang Liu; Pan Zheng
Journal:  Hum Mol Genet       Date:  2009-04-29       Impact factor: 6.150

7.  A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori's disease.

Authors:  Alan Cheng; Mei Zhang; Matthew S Gentry; Carolyn A Worby; Jack E Dixon; Alan R Saltiel
Journal:  Genes Dev       Date:  2007-10-01       Impact factor: 11.361

8.  Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo.

Authors:  Vincent S Tagliabracci; Julie Turnbull; Wei Wang; Jean-Marie Girard; Xiaochu Zhao; Alexander V Skurat; Antonio V Delgado-Escueta; Berge A Minassian; Anna A Depaoli-Roach; Peter J Roach
Journal:  Proc Natl Acad Sci U S A       Date:  2007-11-26       Impact factor: 11.205

9.  Neurodegeneration and functional impairments associated with glycogen synthase accumulation in a mouse model of Lafora disease.

Authors:  Jordi Valles-Ortega; Jordi Duran; Mar Garcia-Rocha; Carles Bosch; Isabel Saez; Lluís Pujadas; Anna Serafin; Xavier Cañas; Eduardo Soriano; José M Delgado-García; Agnès Gruart; Joan J Guinovart
Journal:  EMBO Mol Med       Date:  2011-08-29       Impact factor: 12.137

10.  Suppression of glycogen synthesis as a treatment for Lafora disease: Establishing the window of opportunity.

Authors:  Olga Varea; Jordi Duran; Mònica Aguilera; Neus Prats; Joan J Guinovart
Journal:  Neurobiol Dis       Date:  2020-11-07       Impact factor: 5.996

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