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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2024
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An unexpected polyglycine route to spinocerebellar ataxia
- Nicolas Charlet-Berguerand
Nature Genetics ; Volume: 56 ; Page: 1039-1041
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2023
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A biallelic loss of function variant in HORMAD1 within a large consanguineous Turkish family is associated with spermatogenic arrest
- Ozlem Okutman
- Manon Boivin
- Jean Muller
- Nicolas Charlet-Berguerand
- Stephane Viville
Human Reproduction ; Volume: 38 ; Page: 306-314
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2022
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PolyGA targets the ER stress-adaptive response by impairing GRP75 function at the MAM in C9ORF72-ALS/FTD
- Federica Pilotto
- Alexander Schmitz
- Niran Maharjan
- Rim Diab
- Adolfo Odriozola
- Priyanka Tripathi
- Alfred Yamoah
- Olivier Scheidegger
- Angelina Oestmann
- Cassandra Dennys
- Shrestha Sinha Ray
- Rochelle Rodrigo
- Stephen Kolb
- Eleonora Aronica
- Stefano Di Santo
- Hans Rudolf Widmer
- Nicolas Charlet-Berguerand
- Bhuvaneish Selvaraj
- Siddharthan Chandran
- Kathrin Meyer
- ...
Acta Neuropathologica ; Volume: 144 ; Page: 939-966
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CGG repeat expansion in NOTCH2NLC causes mitochondrial dysfunction and progressive neurodegeneration in Drosophila model
- Jiaxi Yu
- Tongling Liufu
- Yilei Zheng
- Jin Xu
- Lingchao Meng
- Wei Zhang
- Yun Yuan
- Daojun Hong
- Nicolas Charlet-Berguerand
- Zhaoxia Wang
- Jianwen Deng
Proceedings of the National Academy of Sciences ; Volume: 119
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De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes
- Marcello Scala
- Nathalie Drouot
- Suzanna C. Maclennan
- Marja W. Wessels
- Magdalena Krygier
- Lisa Pavinato
- Aida Telegrafi
- Stella A. de Man
- Marjon van Slegtenhorst
- Michele Iacomino
- Francesca Madia
- Paolo Scudieri
- Paolo Uva
- Thea Giacomini
- Giulia Nobile
- Maria Margherita Mancardi
- Ganna Balagura
- Giovanni Battista Galloni
- Alberto Verrotti
- Muhammad Umair
- ...
Human Mutation ; Volume: 43 ; Page: 1299-1313
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Trinucleotide CGG Repeat Diseases: An Expanding Field of Polyglycine Proteins?
- Manon Boivin
- Nicolas Charlet-Berguerand
Frontiers in Genetics ; Volume: 13 ; Page: 843014
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Evidence for a fragile X messenger ribonucleoprotein 1 ( FMR1 ) mRNA gain‐of‐function toxicity mechanism contributing to the pathogenesis of fragile X‐associated premature ovarian insufficiency
- Roseanne Rosario
- Hazel L. Stewart
- Nila Roy Choudhury
- Gracjan Michlewski
- Nicolas Charlet-Berguerand
- Richard A. Anderson
FASEB Journal ; Volume: 36 ; Page: e22612
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2021
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Translation of GGC repeat expansions into a toxic polyglycine protein in NIID defines a novel class of human genetic disorders: The polyG diseases
- Manon Boivin
- Jianwen Deng
- Véronique Pfister
- Erwan Grandgirard
- Mustapha Oulad-Abdelghani
- Bastien Morlet
- Frank Ruffenach
- Luc Negroni
- Pascale Koebel
- Hugues Jacob
- Fabrice Riet
- Anke Dijkstra
- Kathryn Mcfadden
- Wiley Clayton
- Daojun Hong
- Hiroaki Miyahara
- Yasushi Iwasaki
- Jun Sone
- Zhaoxia Wang
- Nicolas Charlet-Berguerand
Neuron ; Volume: 109 ; Page: 1825-1835.e5
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Expression of expanded FMR1-CGG repeats alters mitochondrial miRNAs and modulates mitochondrial functions and cell death in cellular model of FXTAS
- Dhruv Gohel
- Lakshmi Sripada
- Paresh Prajapati
- Fatema Currim
- Milton Roy
- Kritarth Singh
- Anjali Shinde
- Minal Mane
- Darshan Kotadia
- Flora Tassone
- Nicolas Charlet-Berguerand
- Rajesh Singh
Free Radical Biology and Medicine ; Volume: 165 ; Page: 100-110
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Neuropathology of FMR1 -premutation carriers presenting with dementia and neuropsychiatric symptoms
- Anke Dijkstra
- Saif Haify
- Niek Verwey
- Niels Prins
- Esmay van Der Toorn
- Annemieke Rozemuller
- Marianna Bugiani
- Wilfred den Dunnen
- Peter Todd
- Nicolas Charlet-Berguerand
- Rob Willemsen
- Renate Hukema
- Jeroen Hoozemans
Brain Communications ; Volume: 3 ; Page: fcab007
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