The Bad, the Good, and the Ugly about Oxidative Stress

Por Jimenez-Del-Rio, Marlene, Velez-Pardo, Carlos
Publicado em 2012

TPEN Induces Apoptosis Independently of Zinc Chelator Activity in a Model of Acute Lymphoblastic Leukemia and Ex Vivo Acute Leukemia Cells through Oxidative Stress and Mitochondria...

Por Mendivil-Perez, Miguel, Velez-Pardo, Carlos, Jimenez-Del-Rio, Marlene
Publicado em 2012

Response to Rotenone Is Glucose-Sensitive in a Model of Human Acute Lymphoblastic Leukemia: Involvement of Oxidative Stress Mechanism, DJ-1, Parkin, and PINK-1 Proteins

Por Mendivil-Perez, Miguel, Jimenez-Del-Rio, Marlene, Velez-Pardo, Carlos
Publicado em 2014

Vitamin K3 and vitamin C alone or in combination induced apoptosis in leukemia cells by a similar oxidative stress signalling mechanism

Por Bonilla-Porras, Angelica R, Jimenez-Del-Rio, Marlene, Velez-Pardo, Carlos
Publicado em 2011

Dmp53, basket and drICE gene knockdown and polyphenol gallic acid increase life span and locomotor activity in a Drosophila Parkinson’s disease model

Por Ortega-Arellano, Hector Flavio, Jimenez-Del-Rio, Marlene, Velez-Pardo, Carlos
Publicado em 2013

iPSCs-derived nerve-like cells from familial Alzheimer’s disease PSEN 1 E280A reveal increased amyloid-beta levels and loss of the Y chromosome

Por Mendivil-Perez, Miguel, Velez-Pardo, Carlos, Kosik, Kenneth S., Lopera, Francisco, Jimenez-Del-Rio, Marlene
Publicado no Neurosci Lett (2019)

Cholinergic-like neurons carrying PSEN1 E280A mutation from familial Alzheimer’s disease reveal intraneuronal sAPPβ fragments accumulation, hyperphosphorylation of TAU, oxidative s...

Por Soto-Mercado, Viviana, Mendivil-Perez, Miguel, Velez-Pardo, Carlos, Lopera, Francisco, Jimenez-Del-Rio, Marlene
Publicado no PLoS One (2020)

Confirmation of RAX gene involvement in human anophthalmia

Por Lequeux, L., Rio, Marlène, Vigouroux, Armelle, Titeux, Matthias, Etchevers, Heather, Malecaze, François, Chassaing, Nicolas, Calvas, Patrick
Publicado em 2008

Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller’s dementia infantilis, a rare subtype of autism spectrum disorder

Por Philippe, Anne, Craus, Yann, Rio, Marlène, Bahi-Buisson, Nadia, Boddaert, Nathalie, Malan, Valérie, Bonnefont, Jean-Paul, Robel, Laurence
Publicado no BMC Psychiatry (2015)

Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome

Por Baujat, Geneviève, Rio, Marlène, Rossignol, Sylvie, Sanlaville, Damien, Lyonnet, Stanislas, Le Merrer, Martine, Munnich, Arnold, Gicquel, Christine, Cormier-Daire, Valérie, Colleaux, Laurence
Publicado em 2004

Ancestral association between HLA and HFE H63D and C282Y gene mutations from northwest Colombia

Por Rodriguez, Libia M, Giraldo, Mabel C, Velasquez, Laura I, Alvarez, Cristiam M, Garcia, Luis F, Jimenez-Del-Rio, Marlene, Velez-Pardo, Carlos
Publicado no Genet Mol Biol (2015)

Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Auto...

Por Amiel, Jeanne, Rio, Marlène, Pontual, Loïc de, Redon, Richard, Malan, Valérie, Boddaert, Nathalie, Plouin, Perrine, Carter, Nigel P., Lyonnet, Stanislas, Munnich, Arnold, Colleaux, Laurence
Publicado em 2007

Misleading behavioural phenotype with adenylosuccinate lyase deficiency

Por Gitiaux, Cyril, Ceballos-Picot, Irène, Marie, Sandrine, Valayannopoulos, Vassili, Rio, Marlène, Verrieres, Séverine, Benoist, Jean François, Vincent, Marie Françoise, Desguerre, Isabelle, Bahi-Buisson, Nadia
Publicado em 2009

Combination of Linkage Mapping and Microarray-Expression Analysis Identifies NF-κB Signaling Defect as a Cause of Autosomal-Recessive Mental Retardation

Por Philippe, Orianne, Rio, Marlène, Carioux, Astrid, Plaza, Jean-Marc, Guigue, Philippe, Molinari, Florence, Boddaert, Nathalie, Bole-Feysot, Christine, Nitschke, Patrick, Smahi, Asma, Munnich, Arnold, Colleaux, Laurence
Publicado em 2009

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition

Por Rio, Marlène, Malan, Valérie, Boissel, Sarah, Toutain, Annick, Royer, Ghislaine, Gobin, Stéphanie, Morichon-Delvallez, Nicole, Turleau, Catherine, Bonnefont, Jean-Paul, Munnich, Arnold, Vekemans, Michel, Colleaux, Laurence
Publicado em 2010

A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy

Por Nguyen, Lam Son, Schneider, Taiane, Rio, Marlène, Moutton, Sébastien, Siquier-Pernet, Karine, Verny, Florine, Boddaert, Nathalie, Desguerre, Isabelle, Munich, Arnold, Rosa, José Luis, Cormier-Daire, Valérie, Colleaux, Laurence
Publicado no Eur J Hum Genet (2016)

Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency

Por Lagoutte-Renosi, Jennifer, Ségalas-Milazzo, Isabelle, Crahes, Marie, Renosi, Florian, Menu-Bouaouiche, Laurence, Torre, Stéphanie, Lardennois, Caroline, Rio, Marlène, Marret, Stéphane, Brasse-Lagnel, Carole, Laquerrière, Annie, Bekri, Soumeya
Publicado no JIMD Rep (2015)

High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood

Por Collet, Marie, Assouline, Zahra, Bonnet, Damien, Rio, Marlène, Iserin, Franck, Sidi, Daniel, Goldenberg, Alice, Lardennois, Caroline, Metodiev, Metodi Dimitrov, Haberberger, Birgit, Haack, Tobias, Munnich, Arnold, Prokisch, Holger, Rötig, Agnès
Publicado no Eur J Hum Genet (2016)

Pharmacoresistant Epilepsy in Childhood: Think of the Cerebral Folate Deficiency, a Treatable Disease

Por Mafi, Sarah, Laroche-Raynaud, Cécile, Chazelas, Pauline, Lia, Anne-Sophie, Derouault, Paco, Sturtz, Franck, Baaj, Yasser, Froget, Rachel, Rio, Marlène, Benoist, Jean-François, Poumeaud, François, Favreau, Frédéric, Faye, Pierre-Antoine
Publicado no Brain Sci (2020)

NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications

Por Philippe, Orianne, Rio, Marlène, Malan, Valérie, Van Esch, Hilde, Baujat, Geneviève, Bahi-Buisson, Nadia, Valayannopoulos, Vassili, Gesny, Roseline, Bonnefont, Jean-Paul, Munnich, Arnold, Froyen, Guy, Amiel, Jeanne, Boddaert, Nathalie, Colleaux, Laurence
Publicado em 2013