Federica Fantuzzi, Sanna Toivonen, Andréa Alex Schiavo, Heeyoung Chae, Tariq Mohammad, Toshiaki Sawatani, Nathalie Pachera, Ying Cai, Chiara Vinci, Enrico Virgilio, Laurence Ladrière, Mara Suleiman, Piero Marchetti, Jean‐Christophe Jonas, Patrick Gilon, Décio L. Eizirik, Mariana Igoillo‐Esteve, Miriam Cnop,
In vitro differentiation of human induced pluripotent stem cells (iPSCs) into beta cells represents an important cell source for diabetes research. Here, we fully characterized iPSC-derived beta cell function in vitro and in vivo in humanized mice. Using a 7-stage protocol, human iPSCs were differentiated into islet-like aggregates with a yield of insulin-positive beta cells comparable to that of human islets. The last three stages of differentiation were conducted with two different 3D culture systems, ...
Tópico(s): Cannabis and Cannabinoid Research
2022 - Frontiers Media | Frontiers in Cell and Developmental Biology
Produção Nacional
Revisado por pares
Décio Lerner, Claudete Esteves, Maria S. Pombo‐de‐Oliveira,
AbstractA 64-year-old woman is reported with Stage I (Rai) chronic lymphocytic leukaemia (CLL), in whom hypercalcemia developed when an increased proportion of prolymphocytic cells characterized a transformation of CLL in prolymphocytoid leukaemia (CLL/PL). Although hypercalcemia is more frequently found in T-cell leukaemia associated with human T lymphotropic lymphocyte type I, scattered reports indicate that patients with B-CLL can also be affected with this metabolic disturbance. The case described ...
Tópico(s): Cutaneous lymphoproliferative disorders research
1994 - Taylor & Francis | Leukemia & lymphoma/Leukemia and lymphoma
Cristina Cosentino, Sanna Toivonen, Esteban Diaz Villamil, Mohamed Atta, Jean‐Luc Ravanat, Stéphane Demine, Andréa Alex Schiavo, Nathalie Pachera, Jean-Philippe Deglasse, Jean‐Christophe Jonas, Diego Balboa, Timo Otonkoski, Ewan R. Pearson, Piero Marchetti, Décio L. Eizirik, Miriam Cnop, Mariana Igoillo‐Esteve,
Transfer RNAs (tRNAs) are non-coding RNA molecules essential for protein synthesis. Post-transcriptionally they are heavily modified to improve their function, folding and stability. Intronic polymorphisms in CDKAL1, a tRNA methylthiotransferase, are associated with increased type 2 diabetes risk. Loss-of-function mutations in TRMT10A, a tRNA methyltransferase, are a monogenic cause of early onset diabetes and microcephaly. Here we confirm the role of TRMT10A as a guanosine 9 tRNA methyltransferase, ...
Tópico(s): Epigenetics and DNA Methylation
2018 - Oxford University Press | Nucleic Acids Research
Vyron Gorgogietas, Bahareh Rajaei, Heeyoung Chae, Bruno J. Santacreu, Sandra Marín-Cañas, Calvin Ke, Toshiaki Sawatani, Anyishaï Musuaya, María Nicol Arroyo, Cristina Moreno‐Castro, Khadija Benabdallah, Céline Demarez, Sanna Toivonen, Cristina Cosentino, Nathalie Pachera, Maria Lytrivi, Ying Cai, L. Carnel, Cris Brown, Fumihiko Urano, Piero Marchetti, Patrick Gilon, Décio L. Eizirik, Miriam Cnop, Mariana Igoillo‐Esteve,
Abstract Aims/hypothesis Wolfram syndrome is a rare autosomal recessive disorder caused by pathogenic variants in the WFS1 gene. It is characterised by insulin-dependent diabetes mellitus, optic nerve atrophy, diabetes insipidus, hearing loss and neurodegeneration. Considering the unmet treatment need for this orphan disease, this study aimed to evaluate the therapeutic potential of glucagon-like peptide 1 receptor (GLP-1R) agonists under wolframin (WFS1) deficiency with a particular focus on human ...
Tópico(s): Endoplasmic Reticulum Stress and Disease
2023 - Springer Science+Business Media | Diabetologia
Mariana Igoillo‐Esteve, Esteban N. Gurzov, Décio L. Eizirik, Miriam Cnop,
Abstract Type 1 diabetes is a chronic autoimmune disease with a strong inflammatory component. We have previously shown that expression of the transcriptional repressor B-cell lymphoma (BCL)-6 is very low in pancreatic β-cells, which may favor prolonged proinflammatory responses after exposure to the cytokines IL-1β and interferon γ. Here we investigated whether cytokine-induced inflammation and apoptosis can be prevented in β-cells by BCL-6 expression using plasmid, prolactin, and adenoviral approaches. ...
Tópico(s): Immune Cell Function and Interaction
2010 - Oxford University Press | Endocrinology
Décio L. Eizirik, Michael Sammeth, Thomas Bouckenooghe, Guy Bottu, Giorgia Sisino, Mariana Igoillo‐Esteve, Fernanda Ortis, Izortze Santín, Máikel L. Colli, Jenny Barthson, Luc Bouwens, Linda Hughes, Lorna Gregory, Gerton Lunter, Lorella Marselli, Piero Marchetti, Mark I. McCarthy, Miriam Cnop,
Type 1 diabetes (T1D) is an autoimmune disease in which pancreatic beta cells are killed by infiltrating immune cells and by cytokines released by these cells. Signaling events occurring in the pancreatic beta cells are decisive for their survival or death in diabetes. We have used RNA sequencing (RNA–seq) to identify transcripts, including splice variants, expressed in human islets of Langerhans under control conditions or following exposure to the pro-inflammatory cytokines interleukin-1β (IL-1β) ...
Tópico(s): Endoplasmic Reticulum Stress and Disease
2012 - Public Library of Science | PLoS Genetics
Miriam Cnop, Mariana Igoillo‐Esteve, Daniel A. Cunha, Laurence Ladrière, Décio L. Eizirik,
The UPR (unfolded protein response) or ER (endoplasmic reticulum) stress response was first described 20 years ago. The field of ER stress has expanded tremendously since, moving from basic biology in yeast to human neurodegenerative, inflammatory, cardiovascular and neoplastic diseases. The ER stress response has also been implicated in diabetes development, affecting both insulin production by pancreatic beta-cells and insulin sensitivity in peripheral tissues. In the present mini-review, we focus ...
Tópico(s): Diabetes and associated disorders
2008 - Portland Press | Biochemical Society Transactions
Daniel A. Cunha, Laurence Ladrière, Fernanda Ortis, Mariana Igoillo‐Esteve, Esteban N. Gurzov, R Lupi, Piero Marchetti, Décio L. Eizirik, Miriam Cnop,
OBJECTIVE Chronic exposure of pancreatic β-cells to saturated free fatty acids (FFAs) causes endoplasmic reticulum (ER) stress and apoptosis and may contribute to β-cell loss in type 2 diabetes. Here, we evaluated the molecular mechanisms involved in the protection of β-cells from lipotoxic ER stress by glucagon-like peptide (GLP)-1 agonists utilized in the treatment of type 2 diabetes. RESEARCH DESIGN AND METHODS INS-1E or fluorescence-activated cell sorter–purified primary rat β-cells were exposed ...
Tópico(s): Diabetes and associated disorders
2009 - American Diabetes Association | Diabetes
Fabrice Moore, Najib Naamane, Máikel L. Colli, Thomas Bouckenooghe, Fernanda Ortis, Esteban N. Gurzov, Mariana Igoillo‐Esteve, Chantal Mathieu, Gianluca Bontempi, Thomas Thykjær, Torben F. Ørntoft, Décio L. Eizirik,
Cytokines produced by islet-infiltrating immune cells induce β-cell apoptosis in type 1 diabetes. The IFN-γ-regulated transcription factors STAT1/IRF-1 have apparently divergent effects on β-cells. Thus, STAT1 promotes apoptosis and inflammation, whereas IRF-1 down-regulates inflammatory mediators. To understand the molecular basis for these differential outcomes within a single signal transduction pathway, we presently characterized the gene networks regulated by STAT1 and IRF-1 in β-cells. This ...
Tópico(s): Diet, Metabolism, and Disease
2010 - Elsevier BV | Journal of Biological Chemistry
Maria Lytrivi, Kassem Ghaddar, Miguel Lopes, Victoria Rosengren, Anthony Piron, Xiaoyan Yi, Henrik J. Johansson, Janne Lehtiö, Mariana Igoillo‐Esteve, Daniel A. Cunha, Lorella Marselli, Piero Marchetti, Henrik Ortsäter, Décio L. Eizirik, Miriam Cnop,
Abstract Background Prolonged exposure to elevated free fatty acids induces β-cell failure (lipotoxicity) and contributes to the pathogenesis of type 2 diabetes. In vitro exposure of β-cells to the saturated free fatty acid palmitate is a valuable model of lipotoxicity, reproducing features of β-cell failure observed in type 2 diabetes. In order to map the β-cell response to lipotoxicity, we combined RNA-sequencing of palmitate-treated human islets with iTRAQ proteomics of insulin-secreting INS-1E ...
Tópico(s): Metabolism, Diabetes, and Cancer
2020 - BioMed Central | BMC Genomics
Maria Lytrivi, Valérie Senée, Calvin Ke, Federica Fantuzzi, Anne Philippi, Baroj Abdulkarim, Toshiaki Sawatani, Sandra Marín-Cañas, Nathalie Pachera, Anne Degavre, Pratibha Singh, Céline Derbois, Doris Lechner, Laurence Ladrière, Mariana Igoillo‐Esteve, Cristina Cosentino, Lorella Marselli, Jean‐François Deleuze, Piero Marchetti, Décio L. Eizirik, Marc Nicolino, Annabelle Chaussenot, Cécile Julier, Miriam Cnop,
Objective DNAJC3 , also known as P58 IPK , is an Hsp40 family member that interacts with and inhibits PKR-like ER-localized eIF2α kinase (PERK). Dnajc3 deficiency in mice causes pancreatic β-cell loss and diabetes. Loss-of-function mutations in DNAJC3 cause early-onset diabetes and multisystemic neurodegeneration. The aim of our study was to investigate the genetic cause of early-onset syndromic diabetes in two unrelated patients, and elucidate the mechanisms of β-cell failure in this syndrome. Methods ...
Tópico(s): RNA modifications and cancer
2021 - Oxford University Press | European Journal of Endocrinology
Fabrice Moore, Máikel L. Colli, Miriam Cnop, Mariana Igoillo‐Esteve, Alessandra K. Cardozo, Daniel A. Cunha, Marco Bugliani, Piero Marchetti, Décio L. Eizirik,
OBJECTIVE The pathogenesis of type 1 diabetes has a strong genetic component. Genome-wide association scans recently identified novel susceptibility genes including the phosphatases PTPN22 and PTPN2. We hypothesized that PTPN2 plays a direct role in β-cell demise and assessed PTPN2 expression in human islets and rat primary and clonal β-cells, besides evaluating its role in cytokine-induced signaling and β-cell apoptosis. RESEARCH DESIGN AND METHODS PTPN2 mRNA and protein expression was evaluated ...
Tópico(s): Pancreatic function and diabetes
2009 - American Diabetes Association | Diabetes
Laurence Ladrière, Mariana Igoillo‐Esteve, Daniel A. Cunha, Jean‐Pierre Brion, Marco Bugliani, Piero Marchetti, Décio L. Eizirik, Miriam Cnop,
Background: Free fatty acids cause pancreatic β-cell apoptosis and may contribute to β-cell loss in type 2 diabetes via the induction of endoplasmic reticulum (ER) stress. Eukaryotic translation initiation factor 2α (eIF2α) phosphorylation is an adaptive response to ER stress, and reductions in eIF2α phosphorylation trigger β-cell failure. Salubrinal inhibits eIF2α dephosphorylation and has been proposed as a novel therapy for diabetes.
Tópico(s): Diabetes and associated disorders
2010 - Oxford University Press | The Journal of Clinical Endocrinology & Metabolism
Michael Volkmar, Sarah Dedeurwaerder, Daniel A. Cunha, Matladi Ndlovu, Matthieu Defrance, Rachel Deplus, Emilie Calonne, Ute Volkmar, Mariana Igoillo‐Esteve, Najib Naamane, S Del Guerra, Matilde Masini, Marco Bugliani, Piero Marchetti, Miriam Cnop, Décio L. Eizirik, François Fuks,
Article31 January 2012Open Access DNA methylation profiling identifies epigenetic dysregulation in pancreatic islets from type 2 diabetic patients Michael Volkmar Michael Volkmar Laboratory of Cancer Epigenetics, Faculty of Medicine, Université Libre de Bruxelles, Brussels, Belgium Search for more papers by this author Sarah Dedeurwaerder Sarah Dedeurwaerder Laboratory of Cancer Epigenetics, Faculty of Medicine, Université Libre de Bruxelles, Brussels, Belgium Search for more papers by this author ...
Tópico(s): Diabetes and associated disorders
2012 - Springer Nature | The EMBO Journal
Maria Inês Alvelos, Florian Szymczak, Ângela Castela, Sandra Marín-Cañas, Bianca Marmontel de Souza, Ioannis Gkantounas, Máikel L. Colli, Federica Fantuzzi, Cristina Cosentino, Mariana Igoillo‐Esteve, Lorella Marselli, Piero Marchetti, Miriam Cnop, Décio L. Eizirik,
Exposure of human pancreatic beta cells to pro-inflammatory cytokines or metabolic stressors is used to model events related to type 1 and type 2 diabetes, respectively. Quantitative real-time PCR is commonly used to quantify changes in gene expression. The selection of the most adequate reference gene(s) for gene expression normalization is an important pre-requisite to obtain accurate and reliable results. There are no universally applicable reference genes, and the human beta cell expression ...
Tópico(s): RNA Interference and Gene Delivery
2021 - Taylor & Francis | Islets
Esteban N. Gurzov, Jenny Barthson, Ihsane Marhfour, Fernanda Ortis, Najib Naamane, Mariana Igoillo‐Esteve, Conny Gysemans, Chantal Mathieu, Shigetaka Kitajima, Piero Marchetti, Torben F. Ørntoft, Latifa Bakiri, Erwin F. Wagner, Décio L. Eizirik,
Destruction of insulin-producing pancreatic β-cells by local autoimmune inflammation is a hallmark of type 1 diabetes. Histochemical analysis of pancreases from non-obese diabetic mice indicated activation of the transcription factor JunB/AP-1 (activator protein-1) after autoimmune infiltration of the islets. In vitro studies demonstrated that the cytokines tumor necrosis factor (TNF)-α and interferon (IFN)-γ induce JunB expression as a protective mechanism against apoptosis in both human and rodent ...
Tópico(s): Diabetes Management and Research
2011 - Springer Nature | Oncogene
Produção Nacional
Revisado por pares
Abel Esteves Soares, Michaël Maes, Paula Godeny, Andressa Keiko Matsumoto, Décio Sabbatini Barbosa, Taysa Antonia F. da Silva, Flávio Henrique M.O. Souza, Vinícius Daher Alvares Delfino,
Tópico(s): Dialysis and Renal Disease Management
2017 - Elsevier BV | Life Sciences
Mariana Igoillo‐Esteve, Lorella Marselli, Daniel A. Cunha, Laurence Ladrière, Fernanda Ortis, Francesco Grieco, Francesco Dotta, Gordon C. Weir, Piero Marchetti, Décio L. Eizirik, Miriam Cnop,
Beta cell failure is a crucial component in the pathogenesis of type 2 diabetes. One of the proposed mechanisms of beta cell failure is local inflammation, but the presence of pancreatic islet inflammation in type 2 diabetes and the mechanisms involved remain under debate.Chemokine and cytokine expression was studied by microarray analysis of laser-capture microdissected islets from pancreases obtained from ten non-diabetic and ten type 2 diabetic donors, and by real-time PCR of human islets exposed ...
Tópico(s): Endoplasmic Reticulum Stress and Disease
2010 - Springer Science+Business Media | Diabetologia
Flora Brozzi, Tarlliza R. Nardelli, Miguel Lopes, Isabelle Millard, Jenny Barthson, Mariana Igoillo‐Esteve, Fabio Arturo Grieco, Olatz Villate, Joana Oliveira, Marina Casimir, Marco Bugliani, Feyza Engin, Gökhan S. Hotamışlıgil, Piero Marchetti, Décio L. Eizirik,
Proinflammatory cytokines contribute to beta cell damage in type 1 diabetes in part through activation of endoplasmic reticulum (ER) stress. In rat beta cells, cytokine-induced ER stress involves NO production and consequent inhibition of the ER Ca2+ transporting ATPase sarco/endoplasmic reticulum Ca2+ pump 2 (SERCA2B). However, the mechanisms by which cytokines induce ER stress and apoptosis in mouse and human pancreatic beta cells remain unclear. The purpose of this study is to elucidate the role ...
Tópico(s): Diabetes and associated disorders
2015 - Springer Science+Business Media | Diabetologia
Mariana Igoillo‐Esteve, Ewa Gurgul-Convey, Amelié Hu, Laila R.B. Santos, Baroj Abdulkarim, Satyan Chintawar, Lorella Marselli, Piero Marchetti, Jean‐Christophe Jonas, Décio L. Eizirik, Massimo Pandolfo, Miriam Cnop,
Friedreich's ataxia (FRDA) is a neurodegenerative disorder associated with cardiomyopathy and diabetes. Effective therapies for FRDA are an urgent unmet need; there are currently no options to prevent or treat this orphan disease. FRDA is caused by reduced expression of the mitochondrial protein frataxin. We have previously demonstrated that pancreatic β-cell dysfunction and death cause diabetes in FRDA. This is secondary to mitochondrial dysfunction and apoptosis but the underlying molecular mechanisms ...
Tópico(s): Endoplasmic Reticulum Stress and Disease
2014 - Oxford University Press | Human Molecular Genetics
Sara A. Litwak, Lokman Pang, Sandra Galić, Mariana Igoillo‐Esteve, William J. Stanley, Jean-Valéry Turatsinze, Kim Loh, Helen E. Thomas, Arpeeta Sharma, Eric Trépo, Christophe Moreno, Daniel J. Gough, Décio L. Eizirik, Judy B. de Haan, Esteban N. Gurzov,
The members of the BCL-2 family are crucial regulators of the mitochondrial pathway of apoptosis in normal physiology and disease. Besides their role in cell death, BCL-2 proteins have been implicated in the regulation of mitochondrial oxidative phosphorylation and cellular metabolism. It remains unclear, however, whether these proteins have a physiological role in glucose homeostasis and metabolism in vivo. In this study, we report that fat accumulation in the liver increases c-Jun N-terminal kinase– ...
Tópico(s): Peroxisome Proliferator-Activated Receptors
2017 - American Diabetes Association | Diabetes
Mariana Igoillo‐Esteve, Anne Genin, Nelle Lambert, Julie Désir, Isabelle Pirson, Baroj Abdulkarim, Nicolas Simonis, Anaïs Drielsma, Lorella Marselli, Piero Marchetti, Pierre Vanderhaeghen, Décio L. Eizirik, Wim Wuyts, Cécile Julier, Ali Chakera, Sian Ellard, Andrew T. Hattersley, Marc Abramowicz, Miriam Cnop,
We describe a new syndrome of young onset diabetes, short stature and microcephaly with intellectual disability in a large consanguineous family with three affected children. Linkage analysis and whole exome sequencing were used to identify the causal nonsense mutation, which changed an arginine codon into a stop at position 127 of the tRNA methyltransferase homolog gene TRMT10A (also called RG9MTD2). TRMT10A mRNA and protein were absent in lymphoblasts from the affected siblings. TRMT10A is ubiquitously ...
Tópico(s): Epigenetics and DNA Methylation
2013 - Public Library of Science | PLoS Genetics
Manuela O. Ramalho, Pamela Brenda Décio, Emília Z. Albuquerque, Flávia A. Esteves,
Female representation in STEM fields is often explained by the leaky pipeline metaphor, and previous work has shown that the arrival of children is one of the main causes. Thus, understanding how the arrival of children can impact the careers of scientists in the field of myrmecology could provide insight into how to promote a better policy to support women in the sciences and reduce gender disparity. Therefore, we aimed to 1) understand myrmecologist parents and identify the challenges they face, ...
Tópico(s): Career Development and Diversity
2020 - | Boletim do Museu Paraense Emílio Goeldi - Ciências Naturais
Baroj Abdulkarim, Marc Nicolino, Mariana Igoillo‐Esteve, Mathilde Daures, Sophie Romero, Anne Philippi, Valérie Senée, Miguel Lopes, Daniel A. Cunha, Heather P. Harding, Céline Derbois, Nathalie Bendelac, Andrew T. Hattersley, Décio L. Eizirik, David Ron, Miriam Cnop, Cécile Julier,
Dysregulated endoplasmic reticulum stress and phosphorylation of eukaryotic translation initiation factor 2α (eIF2α) are associated with pancreatic β-cell failure and diabetes. Here, we report the first homozygous mutation in the PPP1R15B gene (also known as constitutive repressor of eIF2α phosphorylation [CReP]) encoding the regulatory subunit of an eIF2α-specific phosphatase in two siblings affected by a novel syndrome of diabetes of youth with short stature, intellectual disability, and microcephaly. ...
Tópico(s): Autophagy in Disease and Therapy
2015 - American Diabetes Association | Diabetes
Produção Nacional
Revisado por pares
Miriam Cnop, Baroj Abdulkarim, Guy Bottu, Daniel A. Cunha, Mariana Igoillo‐Esteve, Matilde Masini, Jean‐Valéry Turatsinze, Thasso Griebel, Olatz Villate, Izortze Santín, Marco Bugliani, Laurence Ladrière, Lorella Marselli, Mark I. McCarthy, Piero Marchetti, Michael Sammeth, Décio L. Eizirik,
Pancreatic β-cell dysfunction and death are central in the pathogenesis of type 2 diabetes (T2D). Saturated fatty acids cause β-cell failure and contribute to diabetes development in genetically predisposed individuals. Here we used RNA sequencing to map transcripts expressed in five palmitate-treated human islet preparations, observing 1,325 modified genes. Palmitate induced fatty acid metabolism and endoplasmic reticulum (ER) stress. Functional studies identified novel mediators of adaptive ER stress ...
Tópico(s): RNA modifications and cancer
2013 - American Diabetes Association | Diabetes
Daniel A. Cunha, Mariana Igoillo‐Esteve, Esteban N. Gurzov, Carla Maria Ramos Germano, Najib Naamane, Ihsane Marhfour, Makiko Fukaya, Jean‐Marie Vanderwinden, Conny Gysemans, Chantal Mathieu, Lorella Marselli, Piero Marchetti, Heather P. Harding, David Ron, Décio L. Eizirik, Miriam Cnop,
Environmental factors such as diets rich in saturated fats contribute to dysfunction and death of pancreatic β-cells in diabetes. Endoplasmic reticulum (ER) stress is elicited in β-cells by saturated fatty acids. Here we show that palmitate-induced β-cell apoptosis is mediated by the intrinsic mitochondrial pathway. By microarray analysis, we identified a palmitate-triggered ER stress gene expression signature and the induction of the BH3-only proteins death protein 5 (DP5) and p53-upregulated modulator ...
Tópico(s): Mitochondrial Function and Pathology
2012 - American Diabetes Association | Diabetes
Cristina Cosentino, Toivonen Sanna, Demine Stephane, Schiavo Andrea, Nathalie Pachera, L Eizirik Decio, Cnop Miriam, Igoillo-Esteve Mariana,
Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
Tópico(s): RNA modifications and cancer
2018 - Bioscientifica | Endocrine Abstracts
Mariana Igoillo‐Esteve, Ana F. Oliveira, Cristina Cosentino, Federica Fantuzzi, Céline Demarez, Sanna Toivonen, Amelié Hu, Satyan Chintawar, Miguel Lopes, Nathalie Pachera, Ying Cai, Baroj Abdulkarim, Myriam Rai, Lorella Marselli, Piero Marchetti, Tariq Mohammad, Jean‐Christophe Jonas, Marina Boscolo, Massimo Pandolfo, Décio L. Eizirik, Miriam Cnop,
Friedreich ataxia is an autosomal recessive neurodegenerative disease associated with a high diabetes prevalence. No treatment is available to prevent or delay disease progression. Friedreich ataxia is caused by intronic GAA trinucleotide repeat expansions in the frataxin-encoding FXN gene that reduce frataxin expression, impair iron-sulfur cluster biogenesis, cause oxidative stress, and result in mitochondrial dysfunction and apoptosis. Here we examined the metabolic, neuroprotective, and frataxin- ...
Tópico(s): Neurological disorders and treatments
2019 - American Society for Clinical Investigation | JCI Insight
Miriam Cnop, Mariana Igoillo‐Esteve, Myriam Rai, Audrey Bégu, Yasmina Serroukh, Chantal Depondt, Anyishaï Musuaya, Ihsane Marhfour, Laurence Ladrière, Xavier Moles Lopez, Dionysios Lefkaditis, Fabrice Moore, Jean‐Pierre Brion, Jonathan M. Cooper, Anthony H.V. Schapira, Anne Clark, Arnulf H. Koeppen, Piero Marchetti, Massimo Pandolfo, Décio L. Eizirik, Françoise Féry,
Abstract Objective: Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disease caused in almost all cases by homozygosity for a GAA trinucleotide repeat expansion in the frataxin gene. Frataxin is a mitochondrial protein involved in iron homeostasis. FRDA patients have a high prevalence of diabetes, the pathogenesis of which is not known. We aimed to evaluate the relative contribution of insulin resistance and β‐cell failure and the pathogenic mechanisms involved in FRDA diabetes. ...
Tópico(s): Endoplasmic Reticulum Stress and Disease
2012 - Wiley | Annals of Neurology
Ana F. Oliveira, Daniel A. Cunha, Laurence Ladrière, Mariana Igoillo‐Esteve, Marco Bugliani, Piero Marchetti, Miriam Cnop,
... for Diabetes Research, for expert technical assistance, and Décio L Eizirik, ULB Center for Diabetes Research, and ... for Diabetes Research, for expert technical assistance, and Décio L Eizirik, ULB Center for Diabetes Research, and ...
Tópico(s): Pharmacology and Obesity Treatment
2015 - Future Science Ltd | BioTechniques