Výsledky vyhledávání - "Cécile Dumanchin"

Valosin-containing protein gene mutations: Clinical and neuropathologic features

Autor: Annie Laquerrière, Charles Duyckaerts, Jacqueline Bou, F. Dugny, Thierry Frebourg, Didier Hannequin, Lucie Guyant-Maréchal, I. Le Ber, Dominique Campion, Cécile Dumanchin

Publikováno v: Neurology. 67:644-651

Background: Hereditary inclusion body myopathy (IBMPFD) with Paget disease of bone (PDB) and frontotemporal dementia (FTD) is a rare multisystem disorder with autosomal dominant inheritance. Recently, missense mutations in the gene encoding valosin-c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5640d9fb802b02f0e8f49d126207948
https://doi.org/10.1212/01.wnl.0000225184.14578.d3

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Tau is not normally degraded by the proteasome

Autor: Sébastien Feuillette, Olivier Blard, Cécile Dumanchin, Magalie Lecourtois, Thierry Frebourg, Dominique Campion

Publikováno v: Journal of Neuroscience Research. 80:400-405

Tau-positive inclusions in neurons are consistent neuropathologic features of the most common causes of dementias such Alzheimer's disease and frontotemporal dementia. Ubiquitinated tau-positive inclusions have been reported in brains of Alzheimer's

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::46246de55e21b89078f1feb6c09522d1
https://doi.org/10.1002/jnr.20414

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BACE1- and BACE2-expressing Human Cells

Autor: Cécile Dumanchin-Njock, David Andrau, Jean-François Hernandez, Erwan Ayral, Michel Boisbrun, Solveig Lefranc-Jullien, Mike Farzan, Jean Martinez, Jean Vizzavona, Pierre Fulcrand, Frédéric Checler

Publikováno v: Journal of Biological Chemistry. 278:25859-25866

We have set up stably transfected HEK293 cells overexpressing the beta-secretases BACE1 and BACE2 either alone or in combination with wild-type beta-amyloid precursor protein (betaAPP). The characterization of the betaAPP-derived catabolites indicate

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::af67b1f68565fcbbfd9ae157c98b3eaa
https://doi.org/10.1074/jbc.m302622200

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Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation

Autor: Dominique Campion, Emmanuelle Deslandre, G Raux, Guillaume Lefebvre, Lucie Maréchal, Dominique Parain, Thierry Frebourg, Carole Girard, Cécile Dumanchin, Didier Hannequin

Publikováno v: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. :114-117

Myoclonus-dystonia syndrome (MDS) is an autosomal dominant disorder characterized by myoclonic and dystonic muscle contractions, associated with psychiatric manifestations. MDS is usually considered as a benign disease. In most of the families, MDS i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::dbfc542acbe1371ab25a94757f4d511e
https://doi.org/10.1002/ajmg.b.10062

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Métabolisme du précurseur du peptide amyloïde et présénilines

Autor: Bruno Vincent, Frédéric Checler, Cécile Dumanchin-Njock, Elvira Lopez-Perez, Erwan Paitel, Cristine Alves da Costa, Philippe Marambaud, Agnès Petit

Publikováno v: médecine/sciences. 18:717-724

La production exacerbee de peptide amyloide contribue vraisemblablement a l’etiologie de la maladie d’Alzheimer. En effet, ce peptide s’accumule, s’agrege et conduit aux depots proteiques -les plaques seniles - qui envahissent le cortex des p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::23f2e909d376c378186aad99043fec72
https://doi.org/10.1051/medsci/20021867717

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The caspase-derived C-terminal fragment of βAPP induces caspase-independent toxicity and triggers selective increase of Aβ42 in mammalian cells

Autor: Cristine Alves da Costa, Laurent Pradier, Luc Mercken, Cécile Dumanchin-Njock, Frédéric Checler

Publikováno v: Journal of Neurochemistry. 78:1153-1161

During its physiopathological maturation, the β-amyloid precursor protein undergoes several distinct proteolytic events by activities called secretases. In Alzheimer's disease, the main histological hallmark called senile plaque is clearly linked to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b9083cac80688777880937dda893861c
https://doi.org/10.1046/j.1471-4159.2001.00513.x

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Overexpression of Rab11 or Constitutively Active Rab11 Does Not Affect sAPPα and Aβ Secretions by Wild-Type and Swedish Mutated βAPP-Expressing HEK293 Cells

Autor: Bruno Goud, Dominique Campion, Laurent Pradier, Elvira Lopez-Perez, Frédéric Checler, Christian Czech, Cécile Dumanchin, Thierry Frebourg

Publikováno v: Biochemical and Biophysical Research Communications. 275:910-915

Presenilins 1 and 2 are two homologous proteins which, when mutated, appear responsible for most of the early-onset familial forms of Alzheimer's disease. Among various functional aspects, presenilins appear to behave as chaperoning partners of a ser

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9f664f92e3c4740411d53843af54ac7
https://doi.org/10.1006/bbrc.2000.3404

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Segregation of a Missense Mutation in the Microtubule-Associated Protein Tau Gene with Familial Frontotemporal Dementia and Parkinsonism

Autor: C. Penet, Agnès Camuzat, Cosette Martin, Patrice Verpillat, Bruno Dubois, Thierry Frebourg, Yves Agid, Dominique Campion, Alexis Brice, Pascale Saugier-Veber, Cécile Dumanchin, Françoise Charbonnier, Didier Hannequin

Publikováno v: Human Molecular Genetics. 7:1825-1829

Frontotemporal dementia and parkinsonism (FTDP) is the second most common cause of neurodegenerative dementia after Alzheimer's disease. Recently, several kindreds with an autosomal dominant form of FTDP have been reported and in some families the pa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6e5be3b3c0551130518725c0d547cf2
https://doi.org/10.1093/hmg/7.11.1825

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Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques

Autor: Isabelle Tournier, Jean Baptiste Latouche, Mario Tosi, Serge Belliard, Didier Hannequin, Cécile Dumanchin, Charles Duyckaerts, François Rouhart, Thierry Frebourg, Bertrand Carlander, Dominique Campion, Mira Didic, Jean-François Pellissier, Cosette Martin

Publikováno v: Human mutation. 27(10)

We describe the biological consequences on PSEN1 exons 8 or 9 splicing and Abeta peptides production of four PSEN1 mutations associated with a phenotypic variant of Alzheimer disease, which includes cotton wool plaques and spastic paraparesis (CWP/SP

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::febd05761cd0831d8d65a027abc1114b
https://pubmed.ncbi.nlm.nih.gov/16941492

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APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

Autor: G Raux, Annie Laquerrière, Alexis Brice, Anne Vital, Thierry Frebourg, Frédéric Dubas, Didier Hannequin, Sébastien Feuillette, Martine Vercelletto, Dominique Campion, Nathalie Le Meur, Anne Rovelet-Lecrux, Cécile Dumanchin

Publikováno v: Nature genetics. 38(1)

We report duplication of the APP locus on chromosome 21 in five families with autosomal dominant early-onset Alzheimer disease (ADEOAD) and cerebral amyloid angiopathy (CAA). Among these families, the duplicated segments had a minimal size ranging fr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b446eed8ec401430fd7cfe26113afabe
https://pubmed.ncbi.nlm.nih.gov/16380721

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