Epigenetic regulation of plastin 3 expression by the macrosatellite DXZ4 and the transcriptional regulator CHD4

Authors: Strathmann, Eike A., Hölker, Irmgard, Tschernoster, Nikolai, Hosseinibarkooie, Seyyedmohsen, Come, Julien, Martinat, Cecile, Altmüller, Janine, Wirth, Brunhilde

Source: In The American Journal of Human Genetics 2 March 2023 110(3):442-459

Human-Induced Pluripotent Stem Cell‒Derived Keratinocytes, a Useful Model to Identify and Explore the Pathological Phenotype of Epidermolysis Bullosa Simplex

Authors: Coutier, Julien, Bonnette, Manon, Martineau, Sabrina, Mercadier, Aurélie, Domingues, Sophie, Saidani, Manoubia, Jarrige, Margot, Polveche, Hélène, Darle, Annabelle, Holic, Nathalie, Hadj-Rabia, Smail, Bodemer, Christine, Lemaitre, Gilles, Martinat, Cécile, Baldeschi, Christine

Source: In Journal of Investigative Dermatology October 2022 142(10):2695-2705

Unlocking the Complexity of Neuromuscular Diseases: Insights from Human Pluripotent Stem Cell-Derived Neuromuscular Junctions.

Authors: Gazzola, Morgan¹ (AUTHOR) cmartinat@istem.fr, Martinat, Cécile¹ (AUTHOR)

Source: International Journal of Molecular Sciences. Oct2023, Vol. 24 Issue 20, p15291. 19p.

Subject Terms: *MYONEURAL junction, *HUMAN embryonic stem cells, *PLURIPOTENT stem cells, *NEUROMUSCULAR diseases, *MOTOR neurons

Human iPSC-derived neurons reveal early developmental alteration of neurite outgrowth in the late-occurring neurodegenerative Wolfram syndrome

Authors: Pourtoy-Brasselet, Sandra, Sciauvaud, Axel, Boza-Moran, Maria-Gabriela, Cailleret, Michel, Jarrige, Margot, Polvèche, Hélène, Polentes, Jérôme, Chevet, Eric, Martinat, Cécile, Peschanski, Marc, Aubry, Laetitia

Source: In The American Journal of Human Genetics 4 November 2021 108(11):2171-2185

SISTEMA: A large and standardized collection of transcriptome data sets for human pluripotent stem cell research

Authors: Jarrige, Margot, Polvèche, Hélène, Carteron, Alexandre, Janczarski, Stéphane, Peschanski, Marc, Auboeuf, Didier, Martinat, Cécile

Source: In iScience 23 July 2021 24(7)

MBNL‐dependent impaired development within the neuromuscular system in myotonic dystrophy type 1

Authors: Tahraoui‐Bories, Julie, Mérien, Antoine, González‐Barriga, Anchel, Lainé, Jeanne, Leteur, Céline, Polvèche, Hélène, Carteron, Alexandre, De Lamotte, Juliette Duchesne, Nicoleau, Camille, Polentes, Jérome, Jarrige, Margot, Gomes‐Pereira, Mário, Ventre, Erwann, Poydenot, Pauline, Furling, Denis, Schaeffer, Laurent, Legay, Claire, Martinat, Cécile

Source: Neuropathology & applied neurobiology. 49(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100195627116.0x000001&indx=1&recIds=ETOCvdc_100195627116.0x000001

Pluripotent Stem Cells in Disease Modeling and Drug Discovery for Myotonic Dystrophy Type 1.

Authors: Bérenger-Currias, Noémie¹ (AUTHOR), Martinat, Cécile¹ (AUTHOR) cmartinat@istem.fr, Baghdoyan, Sandrine¹ (AUTHOR)

Source: Cells (2073-4409). Feb2023, Vol. 12 Issue 4, p571. 18p.

Subject Terms: *DRUG discovery, *MYOTONIA atrophica, *PLURIPOTENT stem cells, *DYSTROPHY, *CLINICAL trials, *THERAPEUTICS, *PROTEIN kinases

Pluripotent Stem Cell-Based Drug Screening Reveals Cardiac Glycosides as Modulators of Myotonic Dystrophy Type 1

Authors: Maury, Yves, Poydenot, Pauline, Brinon, Benjamin, Lesueur, Lea, Gide, Jacqueline, Roquevière, Sylvain, Côme, Julien, Polvèche, Hélène, Auboeuf, Didier, Alexandre Denis, Jérome, Pietu, Geneviève, Furling, Denis, Lechuga, Marc, Baghdoyan, Sandrine, Peschanski, Marc, Martinat, Cécile

Source: In iScience 25 January 2019 11:258-271

Chimeric embryos and pseudo-embryos: An alternative to human embryos for research

Authors: Savatier, Pierre, David, Laurent, De Vos, John, Yates, Frank, Tajbakhsh, Shahragim, Martinat, Cécile

Source: M/S. 37(8/9):799-801

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN627360895&indx=1&recIds=ETOCRN627360895

Induced pluripotent stem cells-derived neurons from patients with Friedreich ataxia exhibit differential sensitivity to resveratrol and nicotinamide

Authors: Georges, Pauline, Boza-Moran, Maria-Gabriela, Gide, Jacqueline, Pêche, Georges, Forêt, Benjamin, Bayot, Aurélien, Rustin, Pierre, Peschanski, Marc, Martinat, Cécile, Aubry, Laetitia

Source: Scientific reports. 9(1):1-7

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100190847886.0x000001&indx=1&recIds=ETOCvdc_100190847886.0x000001

Activating ATF6 in spinal muscular atrophy promotes SMN expression and motor neuron survival through the IRE1α‐XBP1 pathway

Authors: D'Amico, Domenico, Biondi, Olivier, Januel, Camille, Bezier, Cynthia, Sapaly, Delphine, Clerc, Zoé, El Khoury, Mirella, Sundaram, Venkat Krishnan, Houdebine, Léo, Josse, Thibaut, Della Gaspera, Bruno, Martinat, Cécile, Massaad, Charbel, Weill, Laure, Charbonnier, Frédéric

Source: Neuropathology & applied neurobiology. 48(5)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100154993984.0x000001&indx=1&recIds=ETOCvdc_100154993984.0x000001

Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome

Authors: Sellier, Chantal, Buijsen, Ronald A.M., He, Fang, Natla, Sam, Jung, Laura, Tropel, Philippe, Gaucherot, Angeline, Jacobs, Hugues, Meziane, Hamid, Vincent, Alexandre, Champy, Marie-France, Sorg, Tania, Pavlovic, Guillaume, Wattenhofer-Donze, Marie, Birling, Marie-Christine, Oulad-Abdelghani, Mustapha, Eberling, Pascal, Ruffenach, Frank, Joint, Mathilde, Anheim, Mathieu, Martinez-Cerdeno, Veronica, Tassone, Flora, Willemsen, Rob, Hukema, Renate K., Viville, Stéphane, Martinat, Cecile, Todd, Peter K., Charlet-Berguerand, Nicolas

Source: In Neuron 18 January 2017 93(2):331-347

Erosion of X Chromosome Inactivation in Human Pluripotent Cells Initiates with XACT Coating and Depends on a Specific Heterochromatin Landscape

Authors: Vallot, Céline, Ouimette, Jean-François, Makhlouf, Mélanie, Féraud, Olivier, Pontis, Julien, Côme, Julien, Martinat, Cécile, Bennaceur-Griscelli, Annelise, Lalande, Marc, Rougeulle, Claire

Source: In Cell Stem Cell 7 May 2015 16(5):533-546

In vitro modeling of hyperpigmentation associated to neurofibromatosis type 1 using melanocytes derived from human embryonic stem cells

Authors: Allouche, Jennifer, Bellon, Nathalia, Saidani, Manoubia, Stanchina-Chatrousse, Laure, Masson, Yolande, Patwardhan, Anand, Gilles-Marsens, Floriane, Delevoye, Cédric, Domingues, Sophie, Nissan, Xavier, Martinat, Cécile, Lemaitre, Gilles, Peschanski, Marc, Baldeschi, Christine

Source: Proceedings of the National Academy of Sciences of the United States of America, 2015 Jul . 112(29), 9034-9039.

Access URL: https://www.jstor.org/stable/26466105

In Vitro and In Vivo Modulation of Alternative Splicing by the Biguanide Metformin

Authors: Laustriat, Delphine, Gide, Jacqueline, Barrault, Laetitia, Chautard, Emilie, Benoit, Clara, Auboeuf, Didier, Boland, Anne, Battail, Christophe, Artiguenave, François, Deleuze, Jean-François, Bénit, Paule, Rustin, Pierre, Franc, Sylvia, Charpentier, Guillaume, Furling, Denis, Bassez, Guillaume, Nissan, Xavier, Martinat, Cécile, Peschanski, Marc, Baghdoyan, Sandrine

Source: In Molecular Therapy - Nucleic Acids 2015 4

Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ.

Authors: Barbeau, Susie, Semprez, Fannie, Dobbertin, Alexandre, Merriadec, Laurine, Roussange, Florine, Eymard, Bruno, Sternberg, Damien, Fournier, Emmanuel, Karasoy, Hanice, Martinat, Cécile, Legay, Claire

Source: International Journal of Molecular Sciences; Nov2023, Vol. 24 Issue 22, p16217, 16p

Subject Terms: CONGENITAL myasthenic syndromes, MUSCLE weakness, CHOLINERGIC receptors, NEUROMUSCULAR diseases, MYONEURAL junction, MYASTHENIA gravis

Generation of a human induced pluripotent stem cell line (iPSC) from peripheral blood mononuclear cells of a patient with a myasthenic syndrome due to mutation in COLQ

Authors: Barbeau, Susie, Desprat, Romain, Eymard, Bruno, Martinat, Cécile, Lemaitre, Jean-Marc, Legay, Claire

Source: Stem cell research. 49

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100193464107.0x000001&indx=1&recIds=ETOCvdc_100193464107.0x000001

The time has come of a therapeutic (re)positioning of the ultra-rare diseases

Authors: Martinat, Cécile, Peschanski, Marc

Source: M/S. 34(12):1019-1021

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN618500480&indx=1&recIds=ETOCRN618500480

Cooperative Transcription Activation by Nurr1 and Pitx3 Induces Embryonic Stem Cell Maturation to the Midbrain Dopamine Neuron Phenotype

Authors: Martinat, Cecile, Bacci, Jean-Jacques, Leete, Thomas, Kim, Jongpil, Vanti, William B., Newman, Amy H., Cha, Joo H., Gether, Ulrik, Wang, Honggang, Abeliovich, Asa

Source: Proceedings of the National Academy of Sciences of the United States of America, 2006 Feb . 103(8), 2874-2879.

Access URL: https://www.jstor.org/stable/30049506

Generating Functional and Highly Proliferative Melanocytes Derived from Human Pluripotent Stem Cells: A Promising Tool for Biotherapeutic Approaches to Treat Skin Pigmentation Disorders.

Authors: Saidani, Manoubia, Darle, Annabelle, Jarrige, Margot, Polveche, Hélène, El Kassar, Lina, Julié, Séverine, Bessou-Touya, Sandrine, Holic, Nathalie, Lemaitre, Gilles, Martinat, Cécile, Baldeschi, Christine, Allouche, Jennifer

Source: International Journal of Molecular Sciences; Apr2023, Vol. 24 Issue 7, p6398, 20p

Subject Terms: HUMAN stem cells, PIGMENTATION disorders, MELANOCYTES, PLURIPOTENT stem cells, SKIN regeneration, HOMEOSTASIS, SKIN biopsy