Nicolas Charlet-Berguerand

Nicolas Charlet-Berguerand

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Nicolas Charlet-Berguerand

Nicolas Charlet-Berguerand

Publications by authors named "Nicolas Charlet-Berguerand"

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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.

Am J Hum Genet 2020 Apr 19;106(4):438-452. Epub 2020 Mar 19.

Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France; Centre National de la Recherche Scientifique, UMR7104, Illkirch 67400, France; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch 67400, France; Université de Strasbourg, Illkirch 67400, France; Laboratory of Genetic Diagnostic, Hôpitaux Universitaires de Strasbourg, Strasbourg 67000, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.02.013DOI Listing
April 2020

Homozygous Splice Site Mutation in Causes Familial Oocyte Maturation Defect.

Genes (Basel) 2020 Apr 1;11(4). Epub 2020 Apr 1.

Institut de Parasitologie et Pathologie Tropicale, EA 7292, Fédération de Médecine Translationelle (IPPTS), Université de Strasbourg, 3 rue Koeberlé, 67000 Strasbourg, France.

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http://dx.doi.org/10.3390/genes11040382DOI Listing
April 2020

Distribution of Parkinson's disease associated RAB39B in mouse brain tissue.

Mol Brain 2020 Mar 30;13(1):52. Epub 2020 Mar 30.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, 50 Flemington Road, Parkville, Victoria, 3052, Australia.

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http://dx.doi.org/10.1186/s13041-020-00584-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7106796PMC
March 2020

FMRpolyG alters mitochondrial transcripts level and respiratory chain complex assembly in Fragile X associated tremor/ataxia syndrome [FXTAS].

Biochim Biophys Acta Mol Basis Dis 2019 06 13;1865(6):1379-1388. Epub 2019 Feb 13.

Department of Biochemistry, Faculty of Science, The M.S. University of Baroda, Vadodara 390002, Gujarat, India. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2019.02.010DOI Listing
June 2019

Repeat-associated non-AUG (RAN) translation and other molecular mechanisms in Fragile X Tremor Ataxia Syndrome.

Brain Res 2018 08 14;1693(Pt A):43-54. Epub 2018 Feb 14.

Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U964, CNRS UMR7104, University of Strasbourg, 67400 Illkirch, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00068993183006
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http://dx.doi.org/10.1016/j.brainres.2018.02.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6010627PMC
August 2018

A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish family.

J Assist Reprod Genet 2017 May 11;34(5):683-694. Epub 2017 Apr 11.

Département Génomique Fonctionnelle et Cancer, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Institut National de Santé et de Recherche Médicale (INSERM) U964/Centre National de Recherche Scientifique (CNRS) UMR 7104, Université de Strasbourg, 67404, Illkirch, France.

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http://dx.doi.org/10.1007/s10815-017-0900-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5427651PMC
May 2017

Regulatory Role of RNA Chaperone TDP-43 for RNA Misfolding and Repeat-Associated Translation in SCA31.

Neuron 2017 Apr 23;94(1):108-124.e7. Epub 2017 Mar 23.

Department of Neurology and Neurological Science, Graduate School, Tokyo Medical and Dental University (TMDU), Yushima 1-5-45, Bunkyo-ku, Tokyo 113-8519, Japan; Center for Brain Integration Research (CBIR), Tokyo Medical and Dental University (TMDU), Yushima 1-5-45, Bunkyo-ku, Tokyo 113-8519, Japan; Center for Personalized Medicine for Healthy Aging, Tokyo Medical and Dental University, Yushima 1-5-45, Bunkyo-ku, Tokyo 113-8519, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2017.02.046DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5681996PMC
April 2017

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

Neuron 2017 Jan 5;93(2):331-347. Epub 2017 Jan 5.

Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U964, CNRS UMR7104, University of Strasbourg, 67400 Illkirch, France; Université de Strasbourg, 67000 Strasbourg, France; Centre National de la Recherche Scientifique, UMR7104, 67400 Illkirch, France; Institut National de la Santé et de la Recherche Médicale, U964, 67400 Illkirch, France. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2016.12.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5263258PMC
January 2017

The most prevalent genetic cause of ALS-FTD, C9orf72 synergizes the toxicity of ATXN2 intermediate polyglutamine repeats through the autophagy pathway.

Autophagy 2016 08 31;12(8):1406-8. Epub 2016 May 31.

a Sorbonne Université, Université Pierre et Marie Curie (UPMC), Université de Paris 06, Unité Mixte 75, Institut National de la Santé et de la Recherche Médicale (INSERM) Unité 1127, Centre National de la Recherche Scientifique (CNRS) Unité Mixte de Recherche 7225 Institut du Cerveau et de la Moelle Épinière (ICM) , Paris , France.

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http://dx.doi.org/10.1080/15548627.2016.1189070DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4968221PMC
August 2016

Pentamidine rescues contractility and rhythmicity in a Drosophila model of myotonic dystrophy heart dysfunction.

Dis Model Mech 2015 Dec 29;8(12):1569-78. Epub 2015 Oct 29.

Translational Genomics Group, Incliva Health Research Institute, Avda. Menendez Pelayo 4 acc 46010, Valencia, Spain Department of Genetics and Estructura de Recerca Interdisciplinar en Biotecnologia i Biomedicina (ERI BIOTECMED), Universitat de València, Dr Moliner 50, Burjasot 46100, Spain.

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http://dx.doi.org/10.1242/dmm.021428DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4728315PMC
December 2015

FXTAS: size does matter!

Cell Cycle 2014 ;13(21):3319

a Institut de Génétique et de Biologie Moléculaire et Cellulaire; CNRS UMR7104; INSERM U964 ; University of Strasbourg ; Illkirch , France.

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http://dx.doi.org/10.4161/15384101.2014.972920DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4615043PMC
August 2015

Decreased DGCR8 expression and miRNA dysregulation in individuals with 22q11.2 deletion syndrome.

PLoS One 2014 1;9(8):e103884. Epub 2014 Aug 1.

Department of Biochemistry and Molecular Medicine, University of California Davis, Sacramento, California, United States of America; MIND Institute, UC Davis Medical Center, Sacramento, California, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0103884PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4118991PMC
April 2015

N-WASP is required for Amphiphysin-2/BIN1-dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy.

EMBO Mol Med 2014 Nov;6(11):1455-75

Myology Group, UMR S 787 INSERM, Université Pierre et Marie Curie Paris 6, Paris, France Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Paris, France Instituto de Medicina Molecular, Faculdade de Medicina da Universidade de Lisboa, Lisboa, Portugal

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http://dx.doi.org/10.15252/emmm.201404436DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4237471PMC
November 2014

The multiple molecular facets of fragile X-associated tremor/ataxia syndrome.

J Neurodev Disord 2014 30;6(1):23. Epub 2014 Jul 30.

Department of Translational Medicine, IGBMC, INSERM U964 Illkirch, France ; Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS UMR7104, INSERM U964, University of Strasbourg, 1 rue Laurent Fries, Illkirch F-67404, France.

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http://dx.doi.org/10.1186/1866-1955-6-23DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4144988PMC
August 2014

A small molecule that targets r(CGG)(exp) and improves defects in fragile X-associated tremor ataxia syndrome.

ACS Chem Biol 2012 Oct 4;7(10):1711-8. Epub 2012 Sep 4.

Department of Chemistry, The Kellogg School of Science and Engineering, The Scripps Research Institute, Scripps Florida, Jupiter, Florida 33458, United States.

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http://dx.doi.org/10.1021/cb300135hDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3477254PMC
October 2012

CELF proteins regulate CFTR pre-mRNA splicing: essential role of the divergent domain of ETR-3.

Nucleic Acids Res 2010 Nov 14;38(20):7273-85. Epub 2010 Jul 14.

Inserm U613-ECLA Team, Faculty of Medicine, 22 Avenue Camille Desmoulins, 29238 Brest Cedex 3, France.

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http://dx.doi.org/10.1093/nar/gkq573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2978352PMC
November 2010

RNA polymerase II bypass of oxidative DNA damage is regulated by transcription elongation factors.

EMBO J 2006 Nov 16;25(23):5481-91. Epub 2006 Nov 16.

Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch Cedex, CU Strasbourg, France.

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http://dx.doi.org/10.1038/sj.emboj.7601403DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1679758PMC
November 2006

Targeted delivery of adenoviral vectors by cytotoxic T cells.

Blood 2004 Oct 25;104(8):2272-80. Epub 2004 May 25.

Center for Cell and Gene Therapy, 6621 Fannin St, MC3-3320, Houston, TX 77030, USA.

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http://dx.doi.org/10.1182/blood-2003-11-3803DOI Listing
October 2004

5'-End RET splicing: absence of variants in normal tissues and intron retention in pheochromocytomas.

Oncology 2002 ;63(1):84-91

Centre de Génétique Moléculaire, Laboratoire associé à l'Université Pierre et Marie Curie, Gif-sur-Yvette, France.

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http://dx.doi.org/10.1159/000065725DOI Listing
September 2002