Skip to Main content
Number of documents


Journal articles33 documents

  • François Lecoquierre, Kevin Cassinari, Pascal Chambon, Gaël Nicolas, Sarah Malsa, et al.. Patients with 10q22.3q23.1 recurrent deletion syndrome are at risk for juvenile polyposis. European Journal of Medical Genetics, Elsevier, 2020, 63 (4), pp.103773. ⟨10.1016/j.ejmg.2019.103773⟩. ⟨hal-02376908⟩
  • Arienne Mirmiran, Antoine Poli, Cecile Ged, Caroline Schmitt, Thibaud Lefebvre, et al.. Phlebotomy as an efficient long-term treatment of congenital erythropoietic porphyria. Haematologica, Ferrata Storti Foundation, In press, pp.haematol.2019.228270. ⟨10.3324/haematol.2019.228270⟩. ⟨inserm-02441267⟩
  • Uriel López-Sánchez, Sandrine Tury, Gaël Nicolas, Miranda Wilson, Snejana Jurici, et al.. Interplay between primary familial brain calcification-associated SLC20A2 and XPR1 phosphate transporters requires inositol polyphosphates for control of cellular phosphate homeostasis. Journal of Biological Chemistry, American Society for Biochemistry and Molecular Biology, 2020, 295 (28), pp.9366-9378. ⟨10.1074/jbc.RA119.011376⟩. ⟨hal-02989425⟩
  • Gabriella Vera, Arthur Sorlin, Geoffroy Delplancq, François Lecoquierre, Marie Brasseur-Daudruy, et al.. Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND). European Journal of Medical Genetics, Elsevier, 2020, pp.104004. ⟨10.1016/j.ejmg.2020.104004⟩. ⟨hal-02904491⟩
  • Dorothée Pouliquen, Mathieu Chastan, Evangéline Bliaux, Gaël Nicolas, Olivier Martinaud. Retrograde amnesia with transposition in the past: A neuropsychological and PET study of a case.. Neuropsychology, American Psychological Association, 2020, 34 (2), pp.235-245. ⟨10.1037/neu0000607⟩. ⟨hal-02922652⟩
  • Sebastien Houy, Gaël Nicolas, Fanny Momboisse, Magali Malacombe, Marie‐france Bader, et al.. αII‐spectrin controls calcium‐regulated exocytosis in neuroendocrine chromaffin cells through neuronal Wiskott–Aldrich Syndrome protein interaction. IUBMB Life, Wiley, 2019, 72 (4), pp.544-552. ⟨10.1002/iub.2217⟩. ⟨hal-02922314⟩
  • Slim Azouzi, Mahmoud Mikdar, Patricia Hermand, Emilie-Fleur Gautier, Virginie Salnot, et al.. Lack of the multidrug transporter MRP4/ABCC4 defines the PEL-negative blood group and impairs platelet aggregation. Blood, American Society of Hematology, 2019, 135 (6), pp.441-448. ⟨10.1182/blood.2019002320⟩. ⟨hal-02416860⟩
  • Katell Peoc'H, Gaël Nicolas, Caroline Schmitt, Arienne Mirmiran, Raed Daher, et al.. Regulation and tissue-specific expression of δ-aminolevulinic acid synthases in non-syndromic sideroblastic anemias and porphyrias. Molecular Genetics and Metabolism, Elsevier, 2019, ⟨10.1016/j.ymgme.2019.01.015⟩. ⟨inserm-02075450⟩
  • Katell Peoc'H, Gaël Nicolas, Caroline Schmitt, Arienne Mirmiran, Raed Daher, et al.. Regulation and tissue-specific expression of δ-aminolevulinic acid synthases in non-syndromic sideroblastic anemias and porphyrias. Molecular Genetics and Metabolism, Elsevier, 2019, ⟨10.1016/j.ymgme.2019.01.015⟩. ⟨hal-02351175⟩
  • Uriel López-Sánchez, Gaël Nicolas, Anne-Claire Richard, David Maltête, Mahmoud Charif, et al.. Characterization of XPR1/SLC53A1 variants located outside of the SPX domain in patients with primary familial brain calcification. Scientific Reports, Nature Publishing Group, In press, ⟨10.1038/s41598-019-43255-x⟩. ⟨hal-02109522⟩
  • Kevin Cassinari, Olivier Quenez, Géraldine Joly-Helas, Ludivine Beaussire, Nathalie Le Meur, et al.. A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations. Clinical Chemistry, American Association for Clinical Chemistry, 2019, 65 (9), pp.1153-1160. ⟨10.1373/clinchem.2019.304246⟩. ⟨hal-02339190⟩
  • Nicolas Chatron, Kevin Cassinari, Olivier Quenez, Stéphanie Baert‐desurmont, Claire Bardel, et al.. Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis. Human Mutation, Wiley, 2019, 40 (11), pp.1993-2000. ⟨10.1002/humu.23845⟩. ⟨hal-02339267⟩
  • Nathan Rainey, Aoula Moustapha, Ana Saric, Gaël Nicolas, Franck Sureau, et al.. Iron chelation by curcumin suppresses both curcumin-induced autophagy and cell death together with iron overload neoplastic transformation. Cell Death Discovery, Springer Nature, 2019, 5, ⟨10.1038/s41420-019-0234-y⟩. ⟨hal-03031432⟩
  • Arienne Mirmiran, Caroline Schmitt, Thibaud Lefebvre, Hana Manceau, Raed Daher, et al.. Erythroid-Progenitor-Targeted Gene Therapy Using Bifunctional TFR1 Ligand-Peptides in Human Erythropoietic Protoporphyria. American Journal of Human Genetics, Elsevier (Cell Press), 2019, 104 (2), pp.341-347. ⟨10.1016/j.ajhg.2018.12.021⟩. ⟨hal-02328937⟩
  • Sarah Beck‐cormier, Christopher Lelliott, John Logan, David Lafont, Laure Merametdjian, et al.. Slc20a2 , encoding the phosphate transporter PiT2, is an important genetic determinant of bone quality and strength. Journal of Bone and Mineral Research, American Society for Bone and Mineral Research, 2019, Epub ahead of print. ⟨10.1002/jbmr.3691⟩. ⟨inserm-02010963⟩
  • Hugo Lenglet, Caroline Schmitt, Thomas Grange, Hana Manceau, Narjesse Karboul, et al.. From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria. Human Molecular Genetics, Oxford University Press (OUP), 2018, 27 (7), pp.1164-1173. ⟨10.1093/hmg/ddy030⟩. ⟨hal-02351445⟩
  • Abderrahmane Hedjoudje, Gaël Nicolas, Alice Goldenberg, Catherine Vanhulle, Clémentine Dumant-Forrest, et al.. Morphological features in juvenile Huntington disease associated with cerebellar atrophy -magnetic resonance imaging morphometric analysis. Pediatric Radiology, Springer Verlag, 2018, 48 (10), pp.1463 - 1471. ⟨10.1007/s00247-018-4167-z⟩. ⟨inserm-02457366⟩
  • Kilan Le Guennec, Hélène Tubeuf, Didier Hannequin, David Wallon, Olivier Quenez, et al.. Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer’s Disease Patient. Journal of Alzheimer's Disease, IOS Press, 2018, 62 (2), pp.821-831. ⟨10.3233/JAD-170981⟩. ⟨hal-02356252⟩
  • Yvette Yien, Sarah Ducamp, Lisa van der Vorm, Julia Kardon, Hana Manceau, et al.. Mutation in human CLPX elevates levels of δ- aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria. Proceedings of the National Academy of Sciences of the United States of America , National Academy of Sciences, 2017, 114 (38), pp.E8045-E8052. ⟨10.1073/pnas.1700632114⟩. ⟨inserm-02075468⟩
  • Hélène-Marie Lanoiselée, Gaël Nicolas, David Wallon, Anne Rovelet-Lecrux, Morgane Lacour, et al.. APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases. PLoS Medicine, Public Library of Science, 2017, 14 (3), pp.e1002270. ⟨10.1371/journal.pmed.1002270⟩. ⟨hal-01767838⟩
  • Céline Bellenguez, Camille Charbonnier, Benjamin Grenier-Boley, Olivier Quenez, Kilan Le Guennec, et al.. Contribution to Alzheimer's disease risk of rare variants in TREM_2, SORL_1, and ABCA_7 in 1779 cases and 1273 controls. Neurobiology of Aging, Elsevier, 2017, 59, pp.220.e1-220.e9. ⟨10.1016/j.neurobiolaging.2017.07.001⟩. ⟨hal-01760388⟩
  • François Sellal, David Wallon, Laurent Martinez-Almoyna, Cecilia Marelli, Abhinav Dhar, et al.. APP Mutations in Cerebral Amyloid Angiopathy with or without Cortical Calcifications: Report of Three Families and a Literature Review. Journal of Alzheimer's disease: JAD, 2016, ⟨10.3233/JAD-160709⟩. ⟨hal-01425503⟩
  • Aline Zarea, Camille Charbonnier, Anne Rovelet-Lecrux, Gaël Nicolas, Stéphane Rousseau, et al.. Seizures in dominantly inherited Alzheimer disease. Neurology, American Academy of Neurology, 2016, 87 ((9)), pp.912-9. ⟨10.1212/WNL.0000000000003048⟩. ⟨inserm-01371485⟩
  • Gaël Nicolas, David Wallon, Camille Charbonnier, Olivier Quenez, Stéphane Rousseau, et al.. Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons. European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (5), pp.710-716. ⟨10.1038/ejhg.2015.173⟩. ⟨hal-01431285⟩
  • Mathieu Anheim, Uriel López-Sánchez, Donatella Giovannini, Anne-Claire Richard, Jawida Touhami, et al.. XPR1 mutations are a rare cause of primary familial brain calcification. Journal of Neurology, Springer Verlag, 2016, 263 (8), pp.1559-1564. ⟨10.1007/s00415-016-8166-4⟩. ⟨hal-02109454⟩
  • Gaël Nicolas, J.L. Battini, Donatella Giovannini, Marc Sitbon, Didier Hannequin. De l’identification des bases moléculaires des calcifications cérébrales primaires aux mécanismes physiopathologiques : de nouvelles étapes. Revue Neurologique, Elsevier Masson, 2015, 171 (10), pp.685-687. ⟨10.1016/j.neurol.2015.07.006⟩. ⟨hal-02109485⟩
  • Gaël Nicolas, Anne-Claire Richard, Cyril Pottier, Christophe Verny, Franck Durif, et al.. Overall mutational spectrum of SLC20A2, PDGFB and PDGFRB in idiopathic basal ganglia calcification. neurogenetics, Springer Verlag, 2014, 15 (3), pp.215-216. ⟨10.1007/s10048-014-0404-2⟩. ⟨hal-02160247⟩
  • Flavia Guillem, Caroline Kannengiesser, Claire Oudin, Anne Lenoir, Pavle Matak, et al.. Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity.. Human Mutation, Wiley, 2012, 33 (9), pp.1388-96. ⟨10.1002/humu.22116⟩. ⟨inserm-00748562⟩
  • Anne Lenoir, Jean-Christophe Deschemin, Léon Kautz, Andrew Ramsay, Marie-Paule Roth, et al.. Iron-deficiency anemia from matriptase-2 inactivation is dependent on the presence of functional Bmp6.: Matriptase-2 and Bmp6 deficiency in mice. Blood, American Society of Hematology, 2011, 117 (2), pp.647-50. ⟨10.1182/blood-2010-07-295147⟩. ⟨inserm-00552073⟩
  • Gaël Nicolas. L'hepcidine, le chef d'orchestre de l'homéostasie du fer. Diabète et obésité, 2009, 4 (29), pp.94-98. ⟨inserm-00378204⟩
  • Fleur Meary, Sylvain Metral, Chrystophe Ferreira, Dominique Eladari, Yves Colin, et al.. A mutant alphaII-spectrin designed to resist calpain and caspase cleavage questions the functional importance of this process in vivo.. Journal of Biological Chemistry, American Society for Biochemistry and Molecular Biology, 2007, 282 (19), pp.14226-14237. ⟨inserm-00284621⟩
  • Gaël Nicolas, Myriam Bennoun, Isabelle Devaux, Carole Beaumont, Bernard Grandchamp, et al.. Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice.. Proceedings of the National Academy of Sciences of the United States of America , National Academy of Sciences, 2001, 98 (15), pp.8780-5. ⟨10.1073/pnas.151179498⟩. ⟨inserm-00331349⟩
  • Gaël Nicolas, Sophie Pedroni, Catherine Fournier, Huguette Gautero, Constantin Craescu, et al.. Spectrin self-association site: characterization and study of beta-spectrin mutations associated with hereditary elliptocytosis.. Biochemical Journal, Portland Press, 1998, 332 ( Pt 1), pp.81-9. ⟨inserm-00284779⟩

Preprints, Working Papers, ...1 document

  • Olivier Quenez, Kevin Cassinari, Sophie Coutant, Francois Lecoquierre, Kilan Le Guennec, et al.. Detection of copy number variations from NGS data using read depth information: a diagnostic performance evaluation. 2019. ⟨hal-02317979v2⟩

Theses1 document

  • Gaël Nicolas. Étude fonctionnelle et structurale de certains domaines des spectrines érythroïdes et non érythroïdes : site de tétramérisation et domaine SH3. Sciences du Vivant [q-bio]. Université Paris-Diderot - Paris VII, 1999. Français. ⟨tel-00284819⟩

Habilitation à diriger des recherches1 document

  • Gaël Nicolas. Étude fonctionnelle et structurale des spectrines -
    Découverte de l'hepcidine, une nouvelle hormone de l'homéostasie du fer. Sciences du Vivant [q-bio]. Université Paris-Diderot - Paris VII, 2008. ⟨tel-00285035⟩