Publications

CUG initiation and frameshifting enable production of dipeptide repeat proteins from ALS/FTD C9ORF72 transcripts.

Ricardos Tabet, Laure Schaeffer, Fernande Freyermut, Melanie Jambeau, Michael Workman, Chao-Zong Lee, Chun-Chia Lin, Jie Jiang, Karen Jansen-West, Hussein Abou-Hamdan, Laurent Désaubry, Tania Gendron, Leonard Petrucelli, Franck Martin*, Clotilde Lagier-Tourenne*

Nat Commun. (2018) 11;9(1):152. 


Novel autosomal dominant TNNT1 mutation causing nemaline myopathy.

Konersman CG, Freyermuth F, Winder TL, Lawlor MW, Lagier-Tourenne C, Patel SB.

Mol Genet Genomic Med. (2017) 5(6):678-691. 


Polyglutamine-expanded huntingtin exarcerbates age-related disruption of nuclear integrity and nucleocytoplasmic transport.

Gasset-Rosa F., Chillon-Marinas C., Goginashvili A., Atwal R.S., Artates J.W., Tabet R., Wheeler V.C., Bang A.G., Cleveland D.W.*. Lagier-Tourenne C.*

Neuron (2017) 94(1):48-57. 


Motor neuron intrinsic and extrinsic mechanisms contribute to the pathogenesis of FUS-associated amyotrophic lateral sclerosis.

Scekic-Zahirovic J., Oussini H.E., Mersmann S., Drenner K., Wagner M., Sun Y., Allmeroth K., Dieterle S., Sinniger J., Dirrig-Grosch S., Rene R., Dormann D., Haass C., Ludolph A.C., Lagier-Tourenne C., Storkebaum E.*, Dupuis L*. 

Acta Neuropathologica (2017) doi:10.1007/s00401-017-1687-9.


Gain of toxicity from ALS/FTD-linked repeat expansions in C9ORF72 is alleviated by antisense oligonucleotides targeting GGGGCC-containing RNAs.

Jiang J., Zhu Q., Gendron TF., Saberi S., McAlonis-Downes M., Seelman A., Stauffer JE., Jafar-Nejad P., Drenner K., Schulte D., Chun S., Sun S., Ling SC., Myers B., Engelhardt J., Katz M., Baughn M., Platoshyn O., Marsala M., Watt A., Heyser CJ., Ard MC., De Muynck L., Daughrity LM., Swing DA., Tessarollo L., Jung CJ., Delpoux A., Utzschneider DT., Hedrick SM., de Jong PJ., Edbauer D., Van Damme P., Petrucelli L., Shaw CE., Bennett CF., Da Cruz S., Ravits J., Rigo F., Cleveland DW.*, Lagier-Tourenne C.*

Neuron (2016) 90(3):535-550.


C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins.

Zhang YJ., Gendron TF., Grima JC., Sasaguri H., Jansen-West K., Xu YF., Katzman RB., Gass J., Murray ME., Shinohara M., Lin WL., Garrett A., Stankowski JN., Daughrity L., Tong J., Perkerson EA., Yue M., Chew J., Castanedes-Casey M., Kurti A., Wang ZS., Liesinger AM., Baker JD., Jiang J., Lagier-Tourenne C., Edbauer D., Cleveland DW., Rademakers R., Boylan KB., Bu G., Link CD., Dickey CA., Rothstein JD., Dickson DW., Fryer JD., Petrucelli L.

Nature Neuroscience (2016) 19(5):668-77.


Toxic gain of function from mutant FUS protein is crucial to trigger cell autonomous motor neuron loss.

Scekic-Zahirovic J., Sendscheid O., El Oussini H., Jambeau M., Sun Y., Mersmann S., Wagner M., Dieterlé S., Sinniger J., Dirrig-Grosch S., Drenner K., Birling M.C., Qiu J., Zhou Y., Li H., Fu X.D., Rouaux C., Shelkovnikova T., Witting A., Ludolph A.C., Kiefer F., Storkebaum E.*, Lagier-Tourenne C.*, Dupuis L*.

EMBO J (2016) 35(10):1077-97.


Translational profiling identifies a cascade of damage initiated in motor neurons and spreading to glia in mutant SOD1-mediated ALS.

Sun S., Sun Y., Ling SC., Ferraiuolo L., McAlonis-Downes M., Zou Y., Drenner K., Wang Y., Ditsworth D., Tokunaga S., Kopelevich A., Kaspar B.K., Lagier-Tourenne C., Cleveland D.W.

PNAS (2015) 112:E6993-7002.


RNA-binding proteins in neurodegeneration: Seq and you shall receive. 

Nussbacher J., Batra R., Lagier-Tourenne C.*, Yeo G.W.*

Trends Neurosci (2015) 38(4):226-236.


Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72.

van Blitterswijk M., Gendron T.F., Baker M.C., DeJesus-Hernandez M., Finch N.A., Brown P.H., Daughrity L.M., Murray M.E., Heckman M.G., Jiang J., Lagier-Tourenne C., Edbauer D., Cleveland D.W., Josephs K.A., Parisi J.E., Knopman D.S., Petersen R.C., Petrucelli L., Boeve B.F., Graff-Radford N.R., Boylan K.B., Dickson D.W., Rademakers R. 

Acta Neuropathol (2015)  PMID: 26437865.


Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers.

Gendron T.F., van Blitterswijk M., Bieniek K.F., Daughrity L.M., Jiang J., Rush B.K., Pedraza O., Lucas J.A., Murray M.E., Desaro P., Robertson A., Overstreet K., Thomas C.S., Crook J.E., Castanedes-Casey M., Rousseau L., Josephs K.A., Parisi J.E., Knopman D.S., Petersen R.C., Boeve B.F., Graff-Radford N.R., Rademakers R., Lagier-Tourenne C., Edbauer D., Cleveland D.W., Dickson D.W., Petrucelli L., Boylan K.B.

Acta Neuropathol (2015) 130(4):559-73.


Exome sequencing in amyotrophic lateral sclerosis identified risk genes and pathways.

Cirulli E.T., Lasseigne B.N., Petrovski S., Sapp P.C., Dion P.A, Couthouis J., Lu Y.F., Wang Q., Krueger B.J., Ren Z., Keebler J., Han Y., Levy S.E., Boone B.E., Wimbish J.R., Waite L.L., Jones A.L., Carulli J.P., Day-Williams A.G., Staropoli J.F., Xin W.W., Chesi A., Raphael A.R., McKenna-Yasek D., Cady J., Vianney de Jong J.M., Kenna K.P., Smith B.N., Topp S., Miller J., Gkazi A., FALS Sequencing Consortium, Al-Chalabi A, Van den Berg L.H., Veldink J., Silani V., Ticazzi N., Shaw C.E., Baloh R.H., Appel S., Simpson E., Lagier-Tourenne C., Pulst S.M., Gibson S., Trojanowski J.Q., Elman L., McCluskey L., Grossman M., Shneider N.A., Chung W.K., Ravits J.M., Glass J.D., Sims K.B., Van Deerlin V.M., Maniatis T., Hayes S.D., Ordureau A., Swarup S., Landers J., Baas F., Allen A.S., Bedlack R.S., Harper J.W., Gitler A.D., Rouleau G.A., Brown R., Harms M.B., Cooper G.M., Harris T., Myers R.M., Goldstein D.B.

Science (2015) 27;347(6229):1436-41.


ALS-causative mutations in FUS/TLS confer gain and loss of function by altered association with SMN and U1-snRNP.

Sun S., Ling S.C., Qiu J., Albuquerque C.P., Zhou Y., Tokunaga S., Li H., Qiu H., Bui A., Yeo G., Huang E.J., Eggan K., Zhou H., Fu X.D., Lagier-Tourenne C., Cleveland D.W.

Nat Commun (2015) 6:6171.


Exploring the effect of sequence length and composition on allele-selective inhibition of human huntingtin expression by single-stranded silencing RNAs.

Hu J., Liu J., Yu D., Aiba Y., Lee S., Pendergraff H., Boubaker J., Artates J.W., Lagier-Tourenne C., Lima W.F., Swayze E.E., Prakash T.P., Corey D.R.

Nucleic Acid Ther (2014) 14(3):199-209.


Mutant Huntingtin promotes autonomous microglia activation via myeloid lineage-determining factors.

Crotti A., Benner C., Kerman B.E., Gosselin D., Lagier-Tourenne C., Zuccato C., Cattaneo E., Gage F.H., Cleveland D.W., Glass C.K.

Nat Neurosci (2014) 17, 513-521.


Direct conversion of patient fibroblasts demonstrates non-cell autonomous toxicity of astrocytes to motor neurons in familial and sporadic ALS.

Meyer K., Ferraiuolo L., Miranda C.J., Likhite S., McElroy S., Renusch S., Ditsworth D., Lagier-Tourenne C., Smith R.A., Ravits J., Burghes A.H., Shaw P.J., Cleveland D.W., Kolb S.J., Kaspar B.K.

PNAS (2014) 111:829-32.


Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for amyotrophic lateral sclerosis and frontotemporal dementia.

Lagier-Tourenne C.*, Baughn M.*, Rigo F., Sun S., Liu P., Li H-R., Jiang J., Watt A., Chun S., Katz M., Qiu J., Sun Y., Ling S-C., Zhu Q., Polymenidou M., Drenner K., Artates J.W., McAlonis M.M., Markmiller S., Hutt R.R., Pizzo D.P., Cady J., Harms M.B., Baloh R.H., VandenBerg S.R., Yeo G.W, Fu X.D., Bennett C.F., Cleveland D.W., Ravits J.

PNAS (2013) 110:E4530-9.


ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43.

Arnold E.S., Ling S.C., Huelga S.C., Lagier-Tourenne C., Polymenidou M., Ditsworth D., Kordasiewicz H.B., McAlonis-Downes M., Platoshyn O., Parone P.A., Da Cruz S., Clutario K.M., Swing D., Tessarollo L., Marsala M., Shaw C.E., Yeo G.W., Cleveland D.W.

PNAS (2013) 110, E736-45.


Divergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAs.

Lagier-Tourenne C.*, Polymenidou M.*, Hutt K.R.*, Vu A.Q, Clutario K.M., Baughn M., Huelga S.C., Ling S.C., Liang T.Y., Mazur C., Wancewicz E., Salim A., Watt A., Freier S., Hicks G.G, Donohue J.P., Shiue L., Bennett C.F., Ravits J., Cleveland D.W., Yeo G.W.

Nat Neurosci (2012) 15, 1488-1497.                    


Misregulated RNA processing in amyotrophic lateral sclerosis.

Polymenidou M.*, Lagier-Tourenne C.*, Hutt K.R.*, Bennett C.F., Cleveland D.W, Yeo G.W.

Brain Res (2012) 1462, 3-15. 


Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43.

Polymenidou M.*, Lagier-Tourenne C.*, Hutt K.R.*, Huelga S.C., Moran J., Liang T.Y., Ling S.C., Sun E., Wancewicz E., Mazur C., Kordasiewicz H., Sedaghat Y., Donohue J.P., Shiue L., Bennett C.F., Yeo G.W., Cleveland D.W.

Nat Neurosci (2011) 14, 459-468.


Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays.

H’mida-Ben Brahim D., M’zahem A., Assoum M., Bouhlal Y., Fattori F., Anheim M., Ali-Pacha L., Ferrat F., Chaouch M., Lagier-Tourenne C., Drouot N., Thibaut C., Benhassine T., Sifi Y., Stoppa-Lyonnet D., N’guyen K., Pouget J., Hamri A., Hentati F., Amouri R., Santorelli FM., Tazir M., Koenig M.

J Neurol (2011) 258, 56-67.


Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia.

Assoum M., Salih M.A., Drouot N., H’Mida-Ben Brahim D., Lagier-Tourenne C., AlDrees A., Elmalik S.A., Ahmed T.S., Seidahmed M.Z., Kabiraj M.M., Koenig M.

Brain (2010) 133, 2439-47.


ALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS/TLS.

Ling SC, Albuquerque CP, Han JS, Lagier-Tourenne C., Tokunaga S, Zhou H, Cleveland DW.

PNAS (2010) 107,13318-23.


Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency.

Quinzii CM, Lopez LC, Gilkerson RW, Dorado B, Coku J, Naini AB, Lagier-Tourenne C., Schuelke M, Salviati L, Carrozzo R, Santorelli F, Rahman S, Tazir M, Koenig M, Dimauro S, Hirano M.

FASEB J (2010) 24, 3733-43.


Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients.

Braida C., Stefanatos RK., Adam B., Mahajan N., Smeets HJ., Niel F., Koenig M., Lagier-Tourenne C., Mandel JL., Faber CG., de Die-Smulders CE., Spaans F., Monckton DG.

Hum Mol Genet (2010) 19, 1399-412.


TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration.

Lagier-Tourenne C.*, Polymenidou M.*, Cleveland DW.

Hum Mol Genet (2010) 19, R46-64.


Rethinking ALS: the FUS about TDP-43.

Lagier-Tourenne C., Cleveland D.W.

Cell (2009) 136, 1001-4. 


Expanding CEP290 mutational spectrum in ciliopathies.

Travaglini L., Brancati F., Attie-Bitach T., Audollent S., Bertini E., Kaplan J., Perrault I., Iannicelli M., Mancuso B., Rigoli L., Rozet J.M., Swistun D., Tolentino J., Dallapiccola B., Gleeson J.G., Valente E.M., International JSRD Study Group, Zankl A., Leventer R., Grattan-Smith P., Janecke A., D’Hooghe M., Sznajer Y., Van Coster R., Demerleir L., Dias K., Moco C., Moreira A., Kim C.A., Maegawa G., Petkovic D., Abdel-Salam G.M., Abdel-Aleem A., Zaki M.S., Marti I., Quijano-Roy S., Sigaudy S., de Lonlay P., Romano S., Touraine R., Koenig M., Lagier-Tourenne C., et al.

Am J Med Genet (2009) 149A, 2173-2180. 


Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H.

Cossée M.*, Lagier-Tourenne C.*, Seguela C., Mohr M., Leturcq F., Gundesli H., Chelly J., Tranchant C., Koenig M., Mandel J.L.

Neuromusc Disord (2009) 19, 255-260. 


SPG11 spastic paraplegia. Anew cause of juvenile parkinsonism.

Anheim M., Lagier-Tourenne C., Stevanin G., Fleury M., Durr A., Namer IJ., Denora P., Brice A., Mandel J.L., Koenig M., Tranchant C.

J Neurol (2009) 256, 104-108.


ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.

Lagier-Tourenne C., Tazir M., Lopez L.C., Quinzii C.M., Assoum M., Drouot N., Busso C., Makri S., Ali-Pacha L., Benhassine T., Anheim M., Lynch D.R., Thibault C., Plewniak F., Bianchetti L., Tranchant C., Poch O., DiMauro S., Mandel J.L., Barros M.H., Hirano M., Koenig M.

Am J Hum Genet (2008) 82, 661-672.