Alzheimer

Imagerie multimodale des maladies neurodégénératives et thérapies

Domaine de recherche principal: 

Neurological and psychiatric diseases

Mots clefs: 

Alzheimer
imagerie
Nucleation/propagation
Recherche translationnelle
Thérapies

Labelisation ENP: 

2016

Centre de recherche / Institut: 

MIRCen

Code unité de recherche: 

UMR 9199

La maladie d'Alzheimer (MA) est un problème de santé publique dans nos sociétés. Elle est associée à l'accumulation intracérébrale de plaques amyloïdes et de protéines tau anormales. Notre équipe aborde cette maladie en se concentrant sur trois points différents.

Leader

Leader: 

Personnel

Membres de l'équipe: 

Thierry Delzescaux
Fanny Petit
Jean-Luc Picq
Anne Sophie Herard
Nicolas Souedet
Nachiket Nadkarni
Cedric Clouchoux
Charlotte Gary
Yael Balbastre
Zhenzhen You
Clement Garin
Clemence Dudeffant
Clement Bouvier
Emmalaurie Baptiste
Lisa Ciaptacz
Établissements

Établissement de rattachement: 

Mircen

Établissements affiliés: 

CNRS
CEA
Université Paris Sud
Université Paris Saclay

École doctorale: 

ED568 - Biosigne
Laboratory

Nom: 

Laboratoire des Maladies Neurodégénératives

Initiatives d'Excellence: 

Neuratris
Publications

publications: 

Picq JL#, Villain N, Gary C#, Pifferi F, Dhenain M#, 2015. Jumping stand apparatus reveals rapidly specific age-related cognitive impairments in mouse lemur primates. PLoS ONE. 10, e0146238.

Djelti F, Braudeau J, Hudry E, Dhenain M #, Varin J, Bièche I, Marquer C, Chali F, Ayciriex S, Alves S, Langui D, Potier MC,Duyckaerts C, Miles R, Aubourg P, Cartier N. Excess of brain cholesterol triggers neuronal death and paves the way for Alzheimer’sdisease. Brain.2015.138,2383-2398.

Pifferi F, Dorieux O#, Castellano C A, Croteau E, Masson M, Guillermier M #, Van Camp N, Guesnet P, Alessandri JM, Cunnane S,Dhenain M#, Aujard F. Dietary omega3 polyunsaturated fatty acids enhance resting state brain glucose utilization and reduce anxietyin an adult non-human primate, the grey mouse lemur (Microcebus murinus). J Lipid Res.2015.56(8),1511-1518.

Ben Haim L, Ceyzeriat K, Carrillo de Sauvage MA, Aubry F, Auregan G, Guillermier M, Houitte D, Petit F #, Faivre E, VandesquilleM#, Dhenain M#, Déglon N, Hantraye P, Brouillet E, Bonvento G, Escartin C. The JAK/STAT3 pathway is a common mediator ofastrocyte reactivity in neurodegenerative disease models. J Neuroscience.2015.35(6):2817-2829.

Roy M#, Cardoso C#, Dorieux O#, Malgorn C#, Epelbaum S, Kraska A#, Brouillet E, Delatour B, Perret M, Aujard F, Dhenain M#.Age-associated evolution of plasmatic amyloid in mouse lemur primates: Relationship with neuronal accumulation of amyloid-ßprecursor protein, Neurobiol Aging.2015.36(1):149-156.

Sawiak SJ, Picq JL#, Dhenain M#, Voxel-based morphometry analyses of in-vivo MRI in the aging mouse lemur primate. FrontiersAging Neurosc.2014.6:82.doi:10.3389/fnagi.2014.00082

Bases moléculaires, physiopathologie et traitement des maladies neurodégénératives

Domaine de recherche principal: 

Neurological and psychiatric diseases

Mots clefs: 

bases moléculaires
Physiopathologie
Parkinson
Alzheimer
Démences fronto-temporales
Ataxies cérébelleuses
Paraplégies spastiques et dystonies

Labelisation ENP: 

2007

Centre de recherche / Institut: 

Institut du Cerveau et de la Moelle épinière

Code unité de recherche: 

UMRS 1127 UMR 7225

Notre recherche est centrée sur l’étude des bases moléculaires et de la physiopathologie de différentes affections neurodégénératives. Les approches génétiques visent à cartographier des gènes responsables ou des facteurs de susceptibilité génétique de ces maladies (maladies de Parkinson et d’Alzheimer, démences fronto-temporales, ataxies cérébelleuses, paraplégies spastiques et dystonies).

Leader

Leader: 

Co leader: 

Établissements

Établissement de rattachement: 

Inserm

Établissements affiliés: 

CNRS
Université Pierre et Marie Curie

Université: 

Université Pierre et Marie Curie

École doctorale: 

ED158
Publications

publications: 

Depienne, C, et al. Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet, 5:e1000381, 2009.

Mochel, F, et al. Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA). Brain, 132:801-9, 2009.

Benajiba, L, et al. TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration. Ann Neurol, 65:470-3, 2009.

Lesage, S, et al. Parkinson?s disease-related LRRK2 G2019S mutation results for independent mutational events in humans. HMG,19:1998-2004, 2010.

Slabicki, M, et al. A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic
paraplegia. PLOS-Biol, 8:e1000408, 2010.

Nalls, MA, et al. Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet, 377:641-9, 2011.

Corvol, JC, et al. The COMT Val158Met polymorphism affects the response to entacapone in Parkinson's disease: a randomized crossover clinical trial. Ann Neurol, 69:111-8, 2011.

Depienne, C, et al. RAD51 haploisufficiency causes congenital mirror movements in humans. AJHG, 90:301-7, 2012.

Mochel, F, et al. Adult polyglucosan body disease: natural history and key MRI findings. Ann Neurol, 72:433-41, 2012.

Tesson, C, et al. Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spasticparaplegia. AJHG, 91:1051-64, 2012.

Lee, Y-C, Dürr, A, et al. Mutations in KCND3 cause spinocerebellar ataxia type 22. Ann Neurol, 72:859-69, 2012.

Palminteri S, et al. Critical roles for anterior insula and dorsal striatum in punishment-based avoidance learning. Neuron, 76:998-1009,2012.

Martin, E, et al. Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.AJHG, 92:238-44, 2013.

Chort, A, et al. Interferon-beta induces clearance of mutant ataxin-7 and improves locomotion in SCA7 knock-in mice. Brain,136:1732-45, 2013.

Depienne, C, et al. Brain white matter oedema due to ClC-2 chloride channel defi ciency: an observational analytical study. Lancet Neurol, 12:659-68, 2013.

Boukhris, A, et al. Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia. AJHG. 93:118-23,2013.

Lesage, S, et al. G51D alpha-synuclein mutation causes a novel parkinsonian-pyramidal syndrome. Ann Neurol, 73(4):459-71,2013.

Bertolin, G, et al. Parkin interacts with the TOM machinery to modulate mitochondrial protein import. Autophagy, 9(11):1-17,2013.

Esteves, T, et al. Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia. AJGH, 94(2):268-77,2014.

van Rheenen W, et al. Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. Nat Genet. 2016 Sep;48(9):1043-8. doi: 10.1038/ng.3622. Epub 2016 Jul 25. 

Génétique et Biothérapies des maladies dégénératives du système nerveux et endocriniennes

Domaine de recherche principal: 

Neurological and psychiatric diseases

Mots clefs: 

Alzheimer
Maladies neurodégénératives
therapie génique
leucodystrophies
cholesterol

Labelisation ENP: 

2013

Code unité de recherche: 

U 986

The NBPS (Neurosciences Bicêtre Paris Sud) brings together a clinical department of Paediatric Neurology (Pr. P. Aubourg), a clinical Department of adult Neurology and a clinical Department of Psychiatry associated with a Department of Interventional Neuroradiology, and a Department of Neurosurgery, supported by two platforms for research and clinical studies:

1. The Platform (P. Aubourg) for the clinical selection and clinical investigation of paediatric and adult CNS diseases that can be candidate for gene therapy approach.

Personnel

Membres de l'équipe: 

FRADIN Delphine
Établissements

Établissement de rattachement: 

Inserm

Établissements affiliés: 

Mircen CEA
Laboratory

Nom: 

Neurosciences Bicêtre Paris Sud
Publications

publications: 

Cartier N, Hacein-Bey-Abina S, Bartholomä C, Veres G, Schmidt M, Kutschera I, Vidaud M, Dal-Cortivo L, Caccavelli L, Malhaoui N,Kiermer V, Mittelstaedt D, Bellesme C, Audat F, Blanche S, Audit M, l?Homme B, Bougnères P, Fischer A, Von Kalle C, Cavazana M,Aubourg P Hematopoietic Stem Cell Gene Therapy With Lentiviral Vector in Xadrenoleukodystrophy.Science, 2009 : 26(5954):818-23.

Marie-Anne Colle*, Françoise Piguet*, Lise Bertrand, Sylvie Raoul, Ivan Bieche, Laurence Dubreuil, Didi Sloothaak, Philippe Moullier,Patrick Aubourg, Yan Cherel, Caroline Sevin*, Nathalie Cartier*
Intracerebral delivery of AAV2-5 vector encoding human ARSA in non-human primates : transgene expression and bioactivity HumMol Genet. 19(1):147-58. 2010

Fourcade S, Ruiz M, Guilera C, Hahnen E, Brichta L, Naudi A, Portero-Otín M, Dacremont G, Cartier N, Wanders R, Kemp S, Mandel JL, Wirth B, Pamplona R, Aubourg P, Pujol A.Valproic acid induces antioxidant effects in X-linked Adrenoleukodystrophy.Hum Mol Genet. 2010 15;19(10):2005-14.

MARIE-ANNE COLLE*, FRANÇOISE PIGUET*, LISE BERTRAND, SYLVIE RAOUL, IVAN BIECHE, LAURENCE DUBREUIL, DIDI SLOOTHAAK, PHILIPPE MOULLIER, PATRICK AUBOURG, YAN CHEREL, CAROLINE SEVIN*, NATHALIE CARTIER* Intracerebral delivery of AAV2-5 vector encoding human ARSA in non-human primates : transgene expression and bioactivity HumMol Genet. 2010 Jan 1;19(1):147-58.

CAVAZZANA-CALVO M, PAYEN E, NEGRE O, WANG G, HEHIR K, FUSIL F, DOWN J, DENARO M, BRADY T, WESTERMAN K,CAVALLESCO R, GILLET-LEGRAND B, CACCAVELLI L, SGARRA R, MAOUCHE-CHRÉTIEN L, BERNAUDIN F, GIROT R,DORAZIO R, MULDER GJ, POLACK A, BANK A, SOULIER J, LARGHERO J, KABBARA N, DALLE B, GOURMEL B, SOCIE G,CHRÉTIEN S, CARTIER N, AUBOURG P, FISCHER A, CORNETTA K, GALACTEROS F, BEUZARD Y, GLUCKMAN E, BUSHMAN F, HACEIN-BEY-ABINA S, LEBOULCH P Transfusion independence and HMGA2 activation after gene therapy of human ?-thalassaemia.Nature. 2010 : 467 : 318-22