Maladies à gain de fonction d'ARN
Chef d'équipe : Nicolas CHARLET BERGUERAND
Département : Médecine translationnelle et neurogénétique
Nicolas CHARLET BERGUERAND
Équipe(s)
Publications
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2021
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Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)
- Daniel Klionsky
- Amal Kamal Abdel-Aziz
- Sara Abdelfatah
- Mahmoud Abdellatif
- Asghar Abdoli
- Steffen Abel
- Hagai Abeliovich
- Marie Abildgaard
- Yakubu Princely Abudu
- Abraham Acevedo-Arozena
- Iannis Adamopoulos
- Khosrow Adeli
- Timon Adolph
- Annagrazia Adornetto
- Elma Aflaki
- Galila Agam
- Anupam Agarwal
- Bharat Aggarwal
- Maria Agnello
- Patrizia Agostinis
- ...
Autophagy ; Volume: 17 ; Page: 1-382
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2020
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De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder
- Francesca Mattioli
- Gaelle Hayot
- Nathalie Drouot
- Bertrand Isidor
- Jérémie Courraud
- Maria-Victoria Hinckelmann
- Frederic Tran Mau-Them
- Chantal Sellier
- Alica Goldman
- Aida Telegrafi
- Alicia Boughton
- Candace Gamble
- Sebastien Moutton
- Angélique Quartier
- Nolwenn Jean
- Paul van Ness
- Sarah Grotto
- Sophie Nambot
- Ganka Douglas
- Yue Cindy Si
- ...
American Journal of Human Genetics ; Volume: 106 ; Page: 438-452
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Reduced autophagy upon C9ORF72 loss synergizes with dipeptide repeat protein toxicity in G4C2 repeat expansion disorders
- Manon Boivin
- Véronique Pfister
- Angeline Gaucherot
- Frank Ruffenach
- Luc Negroni
- Chantal Sellier
- Nicolas Charlet‐berguerand
EMBO Journal ; Volume: 39 ; Page: e100574
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Distribution of Parkinson's disease associated RAB39B in mouse brain tissue
- Yujing Gao
- Gabrielle Wilson
- Sarah Stephenson
- Mustapha Oulad-Abdelghani
- Nicolas Charlet-Berguerand
- Kiymet Bozaoglu
- Catriona Mclean
- Paul Thomas
- David Finkelstein
- Paul Lockhart
Molecular Brain ; Volume: 13
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2019
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FMRpolyG alters mitochondrial transcripts level and respiratory chain complex assembly in Fragile X associated tremor/ataxia syndrome [FXTAS]
- Dhruv Gohel
- Lakshmi Sripada
- Paresh Prajapati
- Kritarth Singh
- Milton Roy
- Darshan Kotadia
- Flora Tassone
- Nicolas Charlet-Berguerand
- Rajesh Singh
Biochimica et Biophysica Acta - Molecular Basis of Disease ; Volume: 1865 ; Page: 1379-1388
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2018
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Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers
- Petra Frick
- Chantal Sellier
- Ian Mackenzie
- Chieh-Yu Cheng
- Julie Tahraoui-Bories
- Cecile Martinat
- R. Jeroen Pasterkamp
- Johannes Prudlo
- Dieter Edbauer
- Mustapha Oulad-Abdelghani
- Regina Feederle
- Nicolas Charlet-Berguerand
- Manuela Neumann
Acta Neuropathologica Communications ; Volume: 6
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rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences
- Chantal Sellier
- Estefanía Cerro-Herreros
- Markus Blatter
- Fernande Freyermuth
- Angeline Gaucherot
- Frank Ruffenach
- Partha Sarkar
- Jack Puymirat
- Bjarne Udd
- John Day
- Giovanni Meola
- Guillaume Bassez
- Harutoshi Fujimura
- Masanori Takahashi
- Benedikt Schoser
- Denis Furling
- Ruben Artero
- Frédéric Allain
- Beatriz Llamusi
- Nicolas Charlet-Berguerand
Nature Communications ; Volume: 9
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Repeat-associated non-AUG (RAN) translation and other molecular mechanisms in Fragile X Tremor Ataxia Syndrome
- M. Rebecca Glineburg
- Peter Todd
- Nicolas Charlet-Berguerand
- Chantal Sellier
Brain Research ; Volume: 1693 ; Page: 43-54
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Daunorubicin reduces MBNL1 titration by expanded CUG repeat RNA and rescues cardiac dysfunctions in a Drosophila model of myotonic dystrophy
- M. Chakraborty
- Chantal Sellier
- Michel Ney
- Pascal Villa
- Nicolas Charlet-Berguerand
- R. Artero
- B. Llamusi
Disease Models & Mechanisms
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2017
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A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish family
- Ozlem Okutman
- Jean Muller
- Valerie Skory
- Jean Marie Garnier
- Angeline Gaucherot
- Yoni Baert
- Valérie Lamour
- Munevver Serdarogullari
- Meral Gultomruk
- Albrecht Röpke
- Sabine Kliesch
- Viviana Herbepin
- Isabelle Aknin
- Moncef Ben Khalifa
- Marius Teletin
- Emre Bakircioglu
- Ellen Goossens
- Nicolas Charlet-Berguerand
- Mustafa Bahceci
- Frank Tüttelmann
- ...
Journal of Assisted Reproduction and Genetics ; Volume: 34 ; Page: 683-694
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