Un lien inattendu entre maladie de Huntington et syndrome de Rett

Jean-Christophe Roux; Diana Zala; Nicolas Panayotis; Ana Borges-Correia; Frédéric Saudou; Laurent Villard

doi:10.1051/medsci/2012281016

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Volume 28 / Numéro 1 (Janvier 2012)

Med Sci (Paris), 28 1 (2012) 44-46

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Numéro		Med Sci (Paris) Volume 28, Numéro 1, Janvier 2012


Page(s)		44 - 46
Section		Nouvelles
DOI		https://doi.org/10.1051/medsci/2012281016
Publié en ligne		27 janvier 2012

Hagberg B. Rett syndrome : clinical peculiarities and biological mysteries. Acta Paediatr 1995 ; 84 : 971–976. [CrossRef] [PubMed] [Google Scholar]
Chahrour M, Zoghbi HY. The story of Rett syndrome: from clinic to neurobiology. Neuron 2007 ; 56 : 422–437. [CrossRef] [PubMed] [Google Scholar]
Amir RE, Van den Veyver IB, Wan M, et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein2. Nat Genet 1999 ; 23 : 185–188. [CrossRef] [PubMed] [Google Scholar]
Viemari JC, Roux JC, Tryba AK, et al. Mecp2 deficiency disrupts norepinephrine and respiratory systems in mice. J Neurosci 2005 ; 25 : 11521–11530. [CrossRef] [PubMed] [Google Scholar]
Han I, You Y, Kordower JH, et al. Differential vulnerability of neurons in Huntington’s disease: the role of cell type-specific features. J Neurochem 2010 ; 113 : 1073–1091. [PubMed] [Google Scholar]
Caviston JP, Holzbaur EL. Huntingtin as an essential integrator of intracellular vesicular trafficking. Trends Cell Biol. 2009 ; 19 : 147–155. [CrossRef] [PubMed] [Google Scholar]
McGuire JR, Rong J, Li SH, et al. Interaction of Huntingtin-associated protein-1 with kinesin light chain: implications in intracellular trafficking in neurons. J Biol Chem 2006 ; 281, 3552–3559. [CrossRef] [PubMed] [Google Scholar]
Gauthier LR, Charrin BC, Borrell-Pagès M, et al. Huntingtin controls neurotrophic support and survival of neurons by enhancing BDNF vesicular transport along microtubules. Cell 2004 ; 118 : 127–138. [CrossRef] [PubMed] [Google Scholar]
Chen WG, Chang Q, Lin Y, et al. Derepression of BDNF transcription involves calcium-dependent phosphorylation of MeCP2. Science 2003 ; 302 : 885–889. [CrossRef] [PubMed] [Google Scholar]
Roux JC, Zala D, Panayotis N, et al. Modification of Mecp2 dosage alters axonal transport through the Huntingtin/Hap1 pathway. Neurobiol Dis 2012 ; 45 : 786–795. [CrossRef] [PubMed] [Google Scholar]
Borrell-Pagès M, Canals JM, Cordelières FP, et al. Cystamine and cysteamine increase brain levels of BDNF in Huntington disease via HSJ1b and transglutaminase. J Clin Invest 2006 ; 116 : 1410–1424. [CrossRef] [PubMed] [Google Scholar]

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[1] Hagberg B. Rett syndrome : clinical peculiarities and biological mysteries. Acta Paediatr 1995 ; 84 : 971–976. [CrossRef] [PubMed] [Google Scholar]

[2] Chahrour M, Zoghbi HY. The story of Rett syndrome: from clinic to neurobiology. Neuron 2007 ; 56 : 422–437. [CrossRef] [PubMed] [Google Scholar]

[3] Amir RE, Van den Veyver IB, Wan M, et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein2. Nat Genet 1999 ; 23 : 185–188. [CrossRef] [PubMed] [Google Scholar]

[4] Viemari JC, Roux JC, Tryba AK, et al. Mecp2 deficiency disrupts norepinephrine and respiratory systems in mice. J Neurosci 2005 ; 25 : 11521–11530. [CrossRef] [PubMed] [Google Scholar]

[5] Han I, You Y, Kordower JH, et al. Differential vulnerability of neurons in Huntington’s disease: the role of cell type-specific features. J Neurochem 2010 ; 113 : 1073–1091. [PubMed] [Google Scholar]

[6] Caviston JP, Holzbaur EL. Huntingtin as an essential integrator of intracellular vesicular trafficking. Trends Cell Biol. 2009 ; 19 : 147–155. [CrossRef] [PubMed] [Google Scholar]

[7] McGuire JR, Rong J, Li SH, et al. Interaction of Huntingtin-associated protein-1 with kinesin light chain: implications in intracellular trafficking in neurons. J Biol Chem 2006 ; 281, 3552–3559. [CrossRef] [PubMed] [Google Scholar]

[8] Gauthier LR, Charrin BC, Borrell-Pagès M, et al. Huntingtin controls neurotrophic support and survival of neurons by enhancing BDNF vesicular transport along microtubules. Cell 2004 ; 118 : 127–138. [CrossRef] [PubMed] [Google Scholar]

[9] Chen WG, Chang Q, Lin Y, et al. Derepression of BDNF transcription involves calcium-dependent phosphorylation of MeCP2. Science 2003 ; 302 : 885–889. [CrossRef] [PubMed] [Google Scholar]

[10] Roux JC, Zala D, Panayotis N, et al. Modification of Mecp2 dosage alters axonal transport through the Huntingtin/Hap1 pathway. Neurobiol Dis 2012 ; 45 : 786–795. [CrossRef] [PubMed] [Google Scholar]

[11] Borrell-Pagès M, Canals JM, Cordelières FP, et al. Cystamine and cysteamine increase brain levels of BDNF in Huntington disease via HSJ1b and transglutaminase. J Clin Invest 2006 ; 116 : 1410–1424. [CrossRef] [PubMed] [Google Scholar]