C. Sellier

发表

CGG Repeat-Associated Translation Mediates Neurodegeneration in Fragile X Tremor Ataxia Syndrome

Peter K. Todd, Ryan E. Mills, Venkatesha Basrur, 2013, Neuron.

Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients

S. Richard, P. Hagerman, R. Willemsen, 2010, The EMBO journal.

Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons

B. Miller, L. Petrucelli, W. Seeley, 2013, Acta Neuropathologica.

Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin‐2 to induce motor neuron dysfunction and cell death

M. Oulad-Abdelghani, E. Kabashi, C. Sellier, 2016, The EMBO journal.

Loss of C 9 ORF 72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death

M. Oulad-Abdelghani, E. Kabashi, C. Sellier, 2016 .

C9ORF72 is a GDP/GTP exchange factor for Rab8 and Rab39 and regulates autophagy

C. Sellier, Camille Corbier, 2017, Small GTPases.

Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers

M. Oulad-Abdelghani, I. Mackenzie, J. Prudlo, 2018, Acta Neuropathologica Communications.

Erratum to: Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons

L. Petrucelli, W. Seeley, A. Boxer, 2014, Acta Neuropathologica.

FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome

M. Oulad-Abdelghani, R. Willemsen, L. Severijnen, 2014, Acta Neuropathologica Communications.

Decreased DGCR8 Expression and miRNA Dysregulation in Individuals with 22q11.2 Deletion Syndrome

F. Sharp, F. Tassone, B. Ander, 2014, PloS one.

Sequestration of DROSHA and DGCR8 by expanded CGG RNA repeats alters microRNA processing in fragile X-associated tremor/ataxia syndrome.

Peter K. Todd, M. Disney, P. Hagerman, 2013, Cell reports.

Daunorubicin reduces MBNL1 sequestration caused by CUG-repeat expansion and rescues cardiac dysfunctions in a Drosophila model of myotonic dystrophy

Beatriz Llamusí, R. Artero, C. Sellier, 2018, Disease Models & Mechanisms.

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

J. Taylor, K. Wada, C. E. Pearson, 2017, Neuron.

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

Matthew D Disney, Jessica L. Childs-Disney, Jessica L Childs-Disney, 2012, ACS chemical biology.

rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences

G. Meola, G. Bassez, J. Puymirat, 2018, Nature Communications.

Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy

Eric T. Wang, E. Wang, M. Swanson, 2016, Nature Communications.

The Molecular Biology of Premutation Expanded Alleles

Peter K. Todd, F. Tassone, P. Todd, 2016 .

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

F. Tassone, V. Peschansky, C. Pastori, 2014, Journal of Neurodevelopmental Disorders.

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

Peter K. Todd, T. Sorg, H. Meziane, 2017, Neuron.

CGG Repeat-Associated Translation Mediates Neurodegeneration in Fragile X Tremor Ataxia Syndrome

Peter K. Todd, Ryan E. Mills, R. Mills, 2013, Neuron.

Loss of nucleoporin Nup50 is a risk factor for amyotrophic lateral sclerosis

J. Veldink, T. Boeckers, A. Ludolph, 2021, medRxiv.

Decreased DGCR 8 Expression and miRNA Dysregulation in Individuals with 22 q 11 . 2 Deletion Syndrome

F. Sharp, F. Tassone, B. Ander, 2014 .

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.

N. Drouot, P. V. Van Ness, A. Goldman, 2020, American journal of human genetics.

Highly clustered de novo frameshift variants in the neuronal splicing factor NOVA2 result in a specific abnormal C terminal part and cause a severe form of intellectual disability with autistic features

N. Drouot, A. Goldman, A. Telegrafi, 2019, bioRxiv.

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

E. Kabashi, C. Sellier, N. Charlet-Berguerand, 2016, Autophagy.

Reduced autophagy upon C9ORF72 loss synergizes with dipeptide repeat protein toxicity in G4C2 repeat expansion disorders

L. Negroni, C. Sellier, V. Pfister, 2020, The EMBO journal.

Potential pathogenic mechanisms underlying Fragile X Tremor Ataxia Syndrome: RAN translation and/or RNA gain-of-function?

R. Willemsen, C. Sellier, R. Hukema, 2017, European journal of medical genetics.

FUS-mediated regulation of acetylcholine receptor transcription at neuromuscular junctions is compromised in amyotrophic lateral sclerosis

T. Boeckers, A. Ludolph, A. Rosenbohm, 2019, Nature Neuroscience.

Integrative genetic analysis illuminates ALS heritability and identifies risk genes

P. Andersen, A. Chiò, J. Veldink, 2023, Nature communications.

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

P. Todd, C. Sellier, M. R. Glineburg, 2018, Brain Research.

FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome

M. Oulad-Abdelghani, R. Willemsen, L. Severijnen, 2014, Acta neuropathologica communications.

FXTAS: Size does matter!

C. Sellier, N. Charlet-Berguerand, 2014, Cell cycle.