Inactivation of Palb2 gene leads to mesoderm differentiation defect and early embryonic lethality in mice

By Rantakari Pia   Nikkil Jenni   Jokela Heli   Ola Roxana   Pylks Katri   Lagerbohm Heidi   Sainio Kirsi   Poutanen Matti   Winqvist Robert  

Human Molecular Genetics, Vol. 19, Iss. 15, 2010-08 ,pp. : 3021-3029

Oxford University Press

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Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for Friedreich ataxia

By Seznec Hervé   Simon Delphine   Monassier Laurent   Criqui-Filipe Paola   Gansmuller Anne   Rustin Pierre   Koenig Michel   Puccio Hélène  

Human Molecular Genetics, Vol. 13, Iss. 10, 2004-05 ,pp. : 1017-1024

Oxford University Press

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Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage

By Ferrer Isidre   Kapfhammer Josef P.   Hindelang Colette   Kemp Stephan   Troffer-Charlier Nathalie   Broccoli Vania   Callyzot Noëlle   Mooyer Petra   Selhorst Jacqueline   Vreken Peter   Wanders Ronald J.A.   Mandel Jean Louis   Pujol Aurora  

Human Molecular Genetics, Vol. 14, Iss. 23, 2005-12 ,pp. : 3565-3577

Oxford University Press

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Assembly and iron-binding properties of human frataxin, the protein deficient in Friedreich ataxia

By Benada O.   Cavadini P.   O’Neill H.A.   Isaya G.  

Human Molecular Genetics, Vol. 11, Iss. 3, 2002-02 ,pp. : 217-227

Oxford University Press

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Iron-dependent regulation of frataxin expression: implications for treatment of Friedreich ataxia

By Li Kuanyu   Besse Edward K.   Ha Dung   Kovtunovych Gennadiy   Rouault Tracey A.  

Human Molecular Genetics, Vol. 17, Iss. 15, 2008-08 ,pp. : 2265-2273

Oxford University Press

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