Literature DB >> 18070137

Homozygosity for mutation G212A of the gene for aspartoacylase is associated with atypical form of Canavan's disease.

M Velinov, N Zellers, J Styles, K Wisniewski.   

Abstract

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Year:  2007        PMID: 18070137     DOI: 10.1111/j.1399-0004.2007.00934.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


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  5 in total

1.  Aspartoacylase supports oxidative energy metabolism during myelination.

Authors:  Jeremy S Francis; Louise Strande; Vladamir Markov; Paola Leone
Journal:  J Cereb Blood Flow Metab       Date:  2012-05-23       Impact factor: 6.200

2.  Canavan disease - unusual imaging features in a child with mild clinical presentation.

Authors:  Ho V Nguyen; Gisele E Ishak
Journal:  Pediatr Radiol       Date:  2014-08-09

3.  Atypical clinical and radiological course of a patient with Canavan disease.

Authors:  Catherine Sarret; Odile Boespflug-Tanguy; Diana Rodriguez
Journal:  Metab Brain Dis       Date:  2015-11-19       Impact factor: 3.584

4.  Leptin-dependent serotonin control of appetite: temporal specificity, transcriptional regulation, and therapeutic implications.

Authors:  Vijay K Yadav; Franck Oury; Kenji F Tanaka; Kenji Tanaka; Tiffany Thomas; Ying Wang; Serge Cremers; Rene Hen; Andree Krust; Pierre Chambon; Gerard Karsenty
Journal:  J Exp Med       Date:  2010-12-27       Impact factor: 14.307

5.  Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.

Authors:  Marisa I Mendes; Desirée Ec Smith; Ana Pop; Pascal Lennertz; Matilde R Fernandez Ojeda; Warsha A Kanhai; Silvy Jm van Dooren; Yair Anikster; Ivo Barić; Caroline Boelen; Jaime Campistol; Lonneke de Boer; Ariana Kariminejad; Hulya Kayserili; Agathe Roubertie; Krijn T Verbruggen; Christine Vianey-Saban; Monique Williams; Gajja S Salomons
Journal:  Hum Mutat       Date:  2017-02-14       Impact factor: 4.878

  5 in total

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