E
Emmanuelle Maréchal
Researcher at French Institute of Health and Medical Research
Publications - 5
Citations - 2526
Emmanuelle Maréchal is an academic researcher from French Institute of Health and Medical Research. The author has contributed to research in topics: Gene mapping & Vascular dementia. The author has an hindex of 5, co-authored 5 publications receiving 2355 citations.
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Journal ArticleDOI
Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia
Anne Joutel,Christophe Corpechot,Anne Ducros,Katayoun Vahedi,Hugues Chabriat,Philippe Mouton,Sonia Alamowitch,Valérie Domenga,Michaelle Cécillion,Emmanuelle Maréchal,Jacqueline Maciazek,Céline Vayssière,Corinne Cruaud,E. A. Cabanis,Marie Madeleine Ruchoux,Jean Weissenbach,Jean Francois Bach,Marie-Germaine Bousser,Elisabeth Tournier-Lasserve +18 more
TL;DR: The characterization of the human Notch3 gene, which was previously mapped to the CADASIL critical region, is reported, indicating that Notch 3 could be the defective protein in CADASil patients.
Journal ArticleDOI
Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas.
S Laberge-le Couteulx,H H Jung,Pierre Labauge,J.P. Houtteville,Christelle Lescoat,Michaelle Cecillon,Emmanuelle Maréchal,Anne Joutel,Jean Francois Bach,E. Tournier-Lasserve +9 more
TL;DR: The data suggest the involvement of the RAP1A signal transduction pathway in vasculogenesis or angiogenesis in Cavernous angiomas families, and that CCM1, a gene whose protein product, KRIT1, interacts with R AP1A (also known as KREV1; ref. 9), a member of theRAS family of GTPases, is mutated inCCM1 families.
Journal ArticleDOI
Notch3 mutations in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a mendelian condition causing stroke and vascular dementia.
Anne Joutel,Christophe Corpechot,Anne Ducros,Katayoun Vahedi,Hugues Chabriat,Philippe Mouton,Sonia Alamowitch,Valérie Domenga,Michaelle Cécillion,Emmanuelle Maréchal,Jacqueline Maciazek,Céline Vayssière,Corinne Cruaud,E. A. Cabanis,Marie Madeleine Ruchoux,Jean Weissenbach,Jean Francois Bach,Marie-Germaine Bousser,Elisabeth Tournier-Lasserve +18 more
TL;DR: Identification of the CADASIL gene will provide a valuable diagnostic tool for clinicians and could be used to estimate the prevalence of this underdiagnosed condition and help in the understanding of pathophysiological mechanisms of CADASil and vascular dementia.
Journal ArticleDOI
Genetic heterogeneity and absence of founder effect in a series of 36 French cerebral cavernous angiomas families.
Sophie Laberge,Pierre Labauge,Emmanuelle Maréchal,Jacqueline Maciazek,Elisabeth Tournier-Lasserve +4 more
TL;DR: CCM1, a yet unidentified gene mapping on 7q21–q22, was shown to be involved in all CCM Hispano-American families, with a strong founder effect.
Journal ArticleDOI
A human homolog of bacterial acetolactate synthase genes maps within the CADASIL critical region
Anne Joutel,Anne Ducros,Sonia Alamowitch,Corinne Cruaud,Valérie Domenga,Emmanuelle Maréchal,Katayoun Vahedi,Hugues Chabriat,Marie-Germaine Bousser,E. Tournier-Lasserve +9 more
TL;DR: Interestingly, this gene encodes a putative protein homologous to several thiamine pyrophosphate-binding proteins previously identified in bacteria, yeast, and plants, raising fascinating questions on the yet unknown function of this gene in mammals.