Altered expression and distribution of cathepsins in neuronopathic forms of Gaucher disease and in other sphingolipidoses

By Vitner Einat B.   Dekel Hani   Zigdon Hila   Shachar Tamar   Farfel-Becker Tamar   Eilam Raya   Karlsson Stefan   Futerman Anthony H.  

Human Molecular Genetics, Vol. 19, Iss. 18, 2010-09 ,pp. : 3583-3590

Oxford University Press

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Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds

By Tiscornia Gustavo   Lorenzo Vivas Erika   Matalonga Leslie   Berniakovich Ina   Barragán Monasterio Montserrat   Eguizábal Cristina   Gort Laura   González Federico   Ortiz Mellet Carmen   García Fernández José Manuel   Ribes Antonia   Veiga Anna   Izpisua Belmonte Juan Carlos  

Human Molecular Genetics, Vol. 22, Iss. 4, 2013-02 ,pp. : 633-645

Oxford University Press

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Palmitoyl-protein thioesterase-1 deficiency mediates the activation of the unfolded protein response and neuronal apoptosis in INCL

By Zhang Zhongjian   Lee Yi-Ching   Kim Sung-Jo   Choi Moonsuk S.   Tsai Pei-Chih   Xu Yan   Xiao Yi-Jin   Zhang Peng   Heffer Alison   Mukherjee Anil B.  

Human Molecular Genetics, Vol. 15, Iss. 2, 2006-01 ,pp. : 337-346

Oxford University Press

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Spatial and temporal correlation between neuron loss and neuroinflammation in a mouse model of neuronopathic Gaucher disease

By Farfel-Becker Tamar   Vitner Einat B.   Pressey Sarah N.R.   Eilam Raya   Cooper Jonathan D.   Futerman Anthony H.  

Human Molecular Genetics, Vol. 20, Iss. 7, 2011-04 ,pp. : 1375-1386

Oxford University Press

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The unfolded protein response in familial amyotrophic lateral sclerosis

By Wang Lijun   Popko Brian   Roos Raymond P.  

Human Molecular Genetics, Vol. 20, Iss. 5, 2011-03 ,pp. : 1008-1015

Oxford University Press

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