Publications – PGNM

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PGNM publications reflect the scientific output of the laboratory’s teams and collaborators, spanning fundamental mechanisms, disease models, technologies and translational research.

Lise-Marie Donnio, Catherine Miquel, Wim Vermeulen, Giuseppina Giglia-Mari, Pierre-Olivier Mari, Cell-type specific concentration regulation of the basal transcription factor TFIIH in XPBy/y mice model, Cancer Cell International.

Nathalie Grandin, Bruno Pereira, Camille Cohen, Pauline Billard, Caroline Dehais, Catherine Carpenti..., The level of activity of the alternative lengthening of telomeres correlates with patient age in IDH-mutant ATRX-loss-of-expression anaplastic astrocytomas, Acta Neuropathol Commun 2019 Nov; 7(1): 175.

Idoux R, Bretaud S, Berthier C, Jacquemond V, Ruggiero F, Allard B, [Unraveling the pathophysiology of Bethlem Myopathy using a unique zebrafish model for the disease]., Med Sci (Paris) 2019 Nov; 35 Hors série n° 2(): 39-42.

Rossi D, Scarcella AM, Liguori E, Lorenzini S, Pierantozzi E, Kutchukian C, Jacquemond V, Messa M, D..., Molecular determinants of homo- and heteromeric interactions of Junctophilin-1 at triads in adult skeletal muscle fibers., Proc Natl Acad Sci U S A 2019 Jul; 116(31): 15716-15724.

Coudert L, Nonaka T, Bernard E, Hasegawa M, Schaeffer L, Leblanc P, Phosphorylated and aggregated TDP-43 with seeding properties are induced upon mutant Huntingtin (mHtt) polyglutamine expression in human cellular models., Cell Mol Life Sci 2019 Jul; 76(13): 2615-2632.

Alain Sarasin, Giuseppina Giglia-Mari, p53 gene mutations in human skin cancers., Experimental Dermatology.

Kutchukian C, Szentesi P, Allard B, Buj-Bello A, Csernoch L, Jacquemond V, Ca2+-induced sarcoplasmic reticulum Ca2+ release in myotubularin-deficient muscle fibers., Cell Calcium 2019 Jun; 80(): 91-100.

Alireza Ghasemizadeh, Emilie Christin, Alexandre Guiraud, Nathalie Couturier, Valérie Risson, Emman..., Skeletal muscle MACF1 maintains myonuclei and mitochondria localization through microtubules to control muscle functionalities, .

Harvey AJ, Avery TD, Schaeffer L, Joseph C, Huff BC, Singh R, Morice C, Giethlen B, Grishin AA, Cole..., Discovery of BNC375, a Potent, Selective, and Orally Available Type I Positive Allosteric Modulator of α7 nAChRs., ACS Med Chem Lett 2019 May; 10(5): 754-760.

Lise-Marie Donnio, Anna Lagarou, Gabrielle Sueur, Pierre-Olivier Mari, Giuseppina Giglia-Mari, CSB-Dependent Cyclin-Dependent Kinase 9 Degradation and RNA Polymerase II Phosphorylation during Transcription-Coupled Repair, Molecular and Cellular Biology.

Zhang Q, Duplany A, Moncollin V, Mouradian S, Goillot E, Mazelin L, Gauthier K, Streichenberger N, A..., Lack of muscle mTOR kinase activity causes early onset myopathy and compromises whole-body homeostasis., J Cachexia Sarcopenia Muscle 2019 Feb; 10(1): 35-53.

Jacquier A, Risson V, Schaeffer L, Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons., J Vis Exp 2019 Jan; (143): .

Mangeot PE, Risson V, Fusil F, Marnef A, Laurent E, Blin J, Mournetas V, Massouridès E, Sohier TJM,..., Genome editing in primary cells and in vivo using viral-derived Nanoblades loaded with Cas9-sgRNA ribonucleoproteins., Nat Commun 2019 Jan; 10(1): 45.

Nolwenn Poccardi, Antoine Rousseau, Oscar Haigh, Julie Takissian, Thierry Naas, Claire Deback, Louis..., Herpes Simplex Virus 1 Replication, Ocular Disease, and Reactivations from Latency Are Restricted Unilaterally after Inoculation of Virus into the Lip, J Virol 2019 Dec; 93(24): .