Literature DB >> 17290461

New mutation in the non-gigantic exon of SACS in Japanese siblings.

Yuhei Takado, Kenju Hara, Takayoshi Shimohata, Susumu Tokiguchi, Osamu Onodera, Masatoyo Nishizawa.   

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Year:  2007        PMID： 17290461     DOI： 10.1002/mds.21365

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  6 in total

1.  Sacsin-related spastic ataxia caused by a novel missense mutation p.Arg272His in a patient from Sicily, southern Italy.

Authors:  Valeria Dibilio; Francesca Cavalcanti; Alessandra Nicoletti; Giovanni Mostile; Elisa Bruno; Grazia Annesi; Patrizia Tarantino; Monica Gagliardi; Antonio Gambardella; Aldo Quattrone; Mario Zappia
Journal:  Cerebellum       Date:  2013-08       Impact factor: 3.847

2.  Structures of ubiquitin-like (Ubl) and Hsp90-like domains of sacsin provide insight into pathological mutations.

Authors:  Marie Ménade; Guennadi Kozlov; Jean-François Trempe; Harshit Pande; Solomon Shenker; Sihara Wickremasinghe; Xinlu Li; Hamed Hojjat; Marie-Josée Dicaire; Bernard Brais; Peter S McPherson; Michael J H Wong; Jason C Young; Kalle Gehring
Journal:  J Biol Chem       Date:  2018-06-26       Impact factor: 5.157

3.  ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.

Authors:  Sascha Vermeer; Rowdy P P Meijer; Benjamin J Pijl; Janneke Timmermans; Johannes R M Cruysberg; Maaike M Bos; Helenius J Schelhaas; Bart P C van de Warrenburg; Nine V A M Knoers; Hans Scheffer; Berry Kremer
Journal:  Neurogenetics       Date:  2008-05-09       Impact factor: 2.660

4.  A novel SACS gene mutation in a Tunisian family.

Authors:  Yosr Bouhlal; Ghada El Euch-Fayeche; Fayçal Hentati; Rim Amouri
Journal:  J Mol Neurosci       Date:  2009-06-16       Impact factor: 3.444

5.  SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia.

Authors:  Sarah L Nickerson; Renate Marquis-Nicholson; Karen Claxton; Fern Ashton; Ivone U S Leong; Debra O Prosser; Jennifer M Love; Alice M George; Graham Taylor; Callum Wilson; R J McKinlay Gardner; Donald R Love
Journal:  Microarrays (Basel)       Date:  2015-10-23

6.  Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.

Authors:  Alessandro Romano; Alessandra Tessa; Amilcare Barca; Fabiana Fattori; Maria Fulvia de Leva; Alessandra Terracciano; Carlo Storelli; Filippo Maria Santorelli; Tiziano Verri
Journal:  Hum Mutat       Date:  2013-03       Impact factor: 4.878
  6 in total

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