Clotilde Lagier-Tourenne

broad institute

H指数:48

被引数:1.4万

个人简介

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工作经历

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荣誉奖项

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Somatic mosaicism in ALS and FTD identifies focal mutations associated with widespread degeneration

ALS和FTD中的体细胞镶嵌性确定了与广泛变性相关的局灶性突变

Nature Genetics

IF29

2026-04-150

OAAI

Blocking RAN translation without altering repeat RNAs rescues C9ORF72-related ALS and FTD phenotypes

在不改变重复rna的情况下阻断RAN翻译可挽救C9ORF72-related ALS和FTD表型

Science

IF45.8

2026-02-050

PRE

Xin Jiang; Laure Schaeffer; Divya Patni; Tommaso Russo; Chao-Zong Lee; Corey Aguilar; Christine Marques; Karen Jansen-West; Marian Hruska-Plochan; Ananya Ray-Soni; Su Min Lim; Aaron Held; Mei Yue; Paula Castellanos Otero; Sandeep Aryal; Hortense D. A. M. Beaussant; Himanish Basu; Hiro Takakuwa; Lillian M. Daughrity; Nandini Ramesh; Paulo Da Costa; Ana Rita A. A. Quadros; Matthew Nolan; Charles Jourdan F. Reyes; Hayden Wheeler; Laura C. Moran; Grant Griesman; Benjamin Wymann; Bianca A. Trombetta; Emma Sofia Lopez-De-Silanes; Michael Canori; Gopinath Krishnan; Yasmim Vieira Souza Da Silva; Gilbert Eriani; Mark W. Albers; Steven E. Arnold; Yuyu Song; Ankur Jain; Isaac M. Chiu; Yong-Jie Zhang; Fen-Biao Gao; Brian J. Wainger; Magdalini Polymenidou; Leonard Petrucelli; Franck Martin; Clotilde Lagier-Tourenne

Neuronal STING activation in amyotrophic lateral sclerosis and frontotemporal dementia

ACTA NEUROPATHOLOGICA

IF9.3

2024-03-137

OAAI

Cryptic splicing of stathmin-2 and UNC13A mRNAs is a pathological hallmark of TDP-43-associated Alzheimer's disease

stathmin-2和UNC13A mrna的隐性剪接是TDP-43-associated阿尔茨海默氏病的病理标志

ACTA NEUROPATHOLOGICA

IF9.3

2024-01-049

Quadros, Ana Rita Agra Almeida; Li, Zhaozhi; Wang, Xue; Ndayambaje, I. Sandra; Aryal, Sandeep; Ramesh, Nandini; Nolan, Matthew; Jayakumar, Rojashree; Han, Yi; Stillman, Hannah; Aguilar, Corey; Wheeler, Hayden J.; Connors, Theresa; Lopez-Erauskin, Jone; Baughn, Michael W.; Melamed, Ze'ev; Beccari, Melinda S.; Martinez, Laura Olmedo; Canori, Michael; Lee, Chao-Zong; Moran, Laura; Draper, Isabelle; Kopin, Alan S.; Oakley, Derek H.; Dickson, Dennis W.; Cleveland, Don W.; Hyman, Bradley T.; Das, Sudeshna; Ertekin-Taner, Niluefer; Lagier-Tourenne, Clotilde

iPSC motor neurons, but not other derived cell types, capture gene expression changes in postmortem sporadic ALS motor neurons

CELL REPORTS

IF6.9

2023-09-018

OAAI

Gasdermin-E mediates mitochondrial damage in axons and neurodegeneration

NEURON

IF15

2023-04-0144

OAAI

Mechanism of STMN2 cryptic splice-polyadenylation and its correction for TDP-43 proteinopathies

Science

IF45.8

2023-01-010

Comprehensive evaluation of human-derived anti-poly-GA antibodies in cellular and animal models of C9orf72 disease

人源性抗poly-ga抗体在C9orf72疾病细胞和动物模型中的综合评价

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IF9.1

2022-12-015

OAAI

Jambeau, Melanie; Meyer, Kevin D.; Hruska-Plochan, Marian; Tabet, Ricardos; Lee, Chao-Zong; Ray-Soni, Ananya; Aguilar, Corey; Savage, Kitty; Mishra, Nibha; Cavegn, Nicole; Borter, Petra; Lin, Chun-Chia; Jansen-West, Karen R.; Jiang, Jie; Freyermuth, Fernande; Lia, Nan; De Rossi, Pierre; Perez-Berlanga, Manuela; Jiang, Xin; Daughrity, Lilian M.; Pereira, Joao; Narayanan, Sarav; Gu, Yuanzheng; Dhokai, Shekhar; Dalkilic-Liddle, Isin; Maniecka, Zuzanna; Weber, Julien; Workman, Michael; McAlonis-Downes, Melissa; Berezovski, Eugene; Zhang, Yong-Jie; Berry, James; Wainger, Brian J.; Kankel, Mark W.; Rushe, Mia; Hock, Christoph; Nitsch, Roger M.; Cleveland, Don W.; Petrucelli, Leonard; Gendron, Tania F.; Montrasio, Fabio; Grimm, Jan; Polymenidou, Magdalini; lagier-Tourenne, Clotilde

Loss of TDP-43 in male germ cells causes meiotic failure and impairs fertility in mice

JOURNAL OF BIOLOGICAL CHEMISTRY

IF3.9

2021-11-0111

OAAI

Wild-type FUS corrects ALS-like disease induced by cytoplasmic mutant FUS through autoregulation

野生型FUS通过自动调节纠正细胞质突变FUS诱导的ALS样疾病

MOLECULAR NEURODEGENERATION

IF17.5

2021-09-069

OAAI

Cytoplasmic FUS triggers early behavioral alterations linked to cortical neuronal hyperactivity and inhibitory synaptic defects

NATURE COMMUNICATIONS

IF15.7

2021-05-2131

OAAI

Scekic-Zahirovic, Jelena; Sanjuan-Ruiz, Inmaculada; Kan, Vanessa; Megat, Salim; De Rossi, Pierre; Dieterle, Stephane; Cassel, Raphaelle; Jamet, Marguerite; Kessler, Pascal; Wiesner, Diana; Tzeplaeff, Laura; Demais, Valerie; Sahadevan, Sonu; Hembach, Katharina M.; Muller, Hans-Peter; Picchiarelli, Gina; Mishra, Nibha; Antonucci, Stefano; Dirrig-Grosch, Sylvie; Kassubek, Jan; Rasche, Volker; Ludolph, Albert; Boutillier, Anne-Laurence; Roselli, Francesco; Polymenidou, Magdalini; Lagier-Tourenne, Clotilde; Liebscher, Sabine; Dupuis, Luc

ALS/FTD-Linked Mutation in FUS Suppresses Intra-axonal Protein Synthesis and Drives Disease Without Nuclear Loss-of-Function of FUS (vol 100, pg 816, 2018)

FUS中ALS/FTD相关突变抑制轴突内蛋白质合成并驱动疾病，而没有FUS的核功能丧失 (100卷，816页，2018)

NEURON

IF15

2020-04-0112

OAAI

Lopez-Erauskin, Jone; Tadokoro, Takahiro; Baughn, Michael W.; Myers, Brian; McAlonis-Downes, Melissa; Chillon-Marinas, Carlos; Asiaban, Joshua N.; Artates, Jonathan; Bui, Anh T.; Vetto, Anne P.; Lee, Sandra K.; Le, Ai Vy; Sun, Ying; Jambeau, Melanie; Boubaker, Jihane; Swing, Deborah; Qiu, Jinsong; Hicks, Geoffrey G.; Ouyang, Zhengyu; Fu, Xiang-Dong; Tessarollo, Lino; Ling, Shuo-Chien; Parone, Philippe A.; Shaw, Christopher E.; Marsala, Martin; Lagier-Tourenne, Clotilde; Cleveland, Don W.; Da Cruz, Sandrine

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

Nature Neuroscience

IF20

2019-10-070

PREAI

Disruption of RNA Metabolism in Neurological Diseases and Emerging Therapeutic Interventions

NEURON

IF15

2019-04-01180

OAAI

Overriding FUS autoregulation in mice triggers gain-of-toxic dysfunctions in RNA metabolism and autophagy-lysosome axis

ELIFE

IF0

2019-02-1260

Ling, Shuo-Chien; Dastidar, Somasish Ghosh; Tokunaga, Seiya; Ho, Wan Yun; Lim, Kenneth; Ilieva, Hristelina; Parone, Philippe A.; Tyan, Sheue-Houy; Tse, Tsemay M.; Chang, Jer-Cherng; Platoshyn, Oleksandr; Bui, Ngoc B.; Anh Bui; Vetto, Anne; Sun, Shuying; McAlonis-Downes, Melissa; Han, Joo Seok; Swing, Debbie; Kapeli, Katannya; Yeo, Gene W.; Tessarollo, Lino; Marsala, Martin; Shaw, Christopher E.; Tucker-Kellogg, Greg; La Spada, Albert R.; lagier-Tourenne, Clotilde; Da Cruz, Sandrine; Cleveland, Don W.

Premature polyadenylation-mediated loss of stathmin-2 is a hallmark of TDP-43-dependent neurodegeneration

Nature Neuroscience

IF20

2019-01-140

PREAI

ALS/FTD-Linked Mutation in FUS Suppresses Infra-axonal Protein Synthesis and Drives Disease Without Nuclear Loss-of-Function of FUS

NEURON

IF15

2018-11-01169

OAAI

Lopez-Erauskin, Jone; Tadokoro, Takahiro; Baughn, Michael W.; Myers, Brian; McAlonis-Downes, Melissa; Chillon-Marinas, Carlos; Asiaban, Joshua N.; Artates, Jonathan; Bui, Anh T.; Vetto, Anne P.; Lee, Sandra K.; Le, Ai Vy; Sun, Ying; Jambeau, Melanie; Boubaker, Jihane; Swing, Deborah; Qiu, Jinsong; Hicks, Geoffrey G.; Ouyang, Zhengyu; Fu, Xiang-Dong; Tessarollo, Lino; Ling, Shuo-Chien; Parone, Philippe A.; Shaw, Christopher E.; Marsala, Martin; lagier-Tourenne, ClotilDe; Cleveland, Don W.; Da Cruz, Sandrine

Taking on the Elephant in the Tissue Culture Room: iPSC Modeling for Sporadic ALS

CELL STEM CELL

IF20.4

2018-10-013

OAAI

Animal models of neurodegenerative diseases

神经退行性疾病的动物模型

Nature Neuroscience

IF20

2018-09-240

PREAI

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