Literature DB >> 12402271

Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations.

Christine Klein1, Liu Liu, Dana Doheny, Norman Kock, Birgitt Müller, Patricia de Carvalho Aguiar, Joanne Leung, Deborah de Leon, Susan B Bressman, Jeremy Silverman, Christopher Smith, Fabio Danisi, Chris Morrison, Ruth H Walker, Miodrag Velickovic, Eberhard Schwinger, Patricia L Kramer, Xandra O Breakefield, Mitchell F Brin, Laurie J Ozelius.   

Abstract

Myoclonus-dystonia is a movement disorder associated with mutations in the epsilon-sarcoglycan gene (SGCE) in most families and in the DRD2 and DYT1 genes in two single families. In both of the latter families, we also found a mutation of SGCE. The molecular mechanisms through which the detected mutations may contribute to myoclonus-dystonia remain to be determined.

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Year:  2002        PMID： 12402271     DOI： 10.1002/ana.10358

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


  18 in total

Review 1.  Neurogenetics: single gene disorders.

Authors:  S-M Pulst
Journal:  J Neurol Neurosurg Psychiatry       Date:  2003-12       Impact factor: 10.154

2.  Earlier onset of motor deficits in mice with double mutations in Dyt1 and Sgce.

Authors:  Fumiaki Yokoi; Guang Yang; Jindong Li; Mark P DeAndrade; Tong Zhou; Yuqing Li
Journal:  J Biochem       Date:  2010-07-13       Impact factor: 3.387

3.  A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia.

Authors:  Vincent Procaccio; Gloria Salazar; Shoichiro Ono; Melanie L Styers; Marla Gearing; Antonio Davila; Richard Jimenez; Jorge Juncos; Claire-Anne Gutekunst; Germana Meroni; Bianca Fontanella; Estelle Sontag; Jean Marie Sontag; Victor Faundez; Bruce H Wainer
Journal:  Am J Hum Genet       Date:  2006-04-21       Impact factor: 11.025

4.  Obsessive-compulsive disorder is not a clinical manifestation of the DYT1 dystonia gene.

Authors:  Gary A Heiman; Ruth Ottman; Rachel J Saunders-Pullman; Laurie J Ozelius; Neil J Risch; Susan B Bressman
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2007-04-05       Impact factor: 3.568

5.  Improved motor performance in Dyt1 ΔGAG heterozygous knock-in mice by cerebellar Purkinje-cell specific Dyt1 conditional knocking-out.

Authors:  Fumiaki Yokoi; Mai Tu Dang; Yuqing Li
Journal:  Behav Brain Res       Date:  2012-02-25       Impact factor: 3.332

6.  Dilated cardiomyopathy mutations in δ-sarcoglycan exert a dominant-negative effect on cardiac myocyte mechanical stability.

Authors:  Matthew D Campbell; Marc Witcher; Anoop Gopal; Daniel E Michele
Journal:  Am J Physiol Heart Circ Physiol       Date:  2016-03-11       Impact factor: 4.733

7.  Myoclonus and tremor response to thalamic deep brain stimulation parameters in a patient with inherited myoclonus-dystonia syndrome.

Authors:  Alexis M Kuncel; Dennis A Turner; Laurie J Ozelius; Paul E Greene; Warren M Grill; Mark A Stacy
Journal:  Clin Neurol Neurosurg       Date:  2008-12-10       Impact factor: 1.876

8.  Printor, a novel torsinA-interacting protein implicated in dystonia pathogenesis.

Authors:  Lisa M Giles; Lian Li; Lih-Shen Chin
Journal:  J Biol Chem       Date:  2009-06-17       Impact factor: 5.157

Review 9.  The genetics of dystonias.

Authors:  Mark S LeDoux
Journal:  Adv Genet       Date:  2012       Impact factor: 1.944

Review 10.  Genetic Aspects of Myoclonus-Dystonia Syndrome (MDS).

Authors:  Laila Rachad; Nadia El Kadmiri; Ilham Slassi; Hicham El Otmani; Sellama Nadifi
Journal:  Mol Neurobiol       Date:  2016-01-20       Impact factor: 5.590
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