The expanding biology of the C9orf72 nucleotide repeat expansion in neurodegenerative disease

被引：153

作者：

Haeusler, Aaron R. ^{[1
]}

Donnelly, Christopher J. ^{[2
,3
]}

Rothstein, Jeffrey D. ^{[4
,5
,6
]}

机构：

[1] Johns Hopkins Univ, Dept Biochem & Mol Biol, Bloomberg Sch Publ Hlth, Baltimore, MD 21205 USA

[2] Univ Pittsburgh, Sch Med, Dept Neurobiol, Pittsburgh, PA 15260 USA

[3] Univ Pittsburgh, Live Lou Ctr ALS Res, Inst Brain, Pittsburgh, PA 15261 USA

[4] Johns Hopkins Univ, Sch Med, Brain Sci Inst, Baltimore, MD 21205 USA

[5] Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21205 USA

[6] Johns Hopkins Univ, Sch Med, Dept Neurosci, Baltimore, MD 21205 USA

来源：

NATURE REVIEWS NEUROSCIENCE | 2016年 / 17卷 / 06期

基金：

美国国家卫生研究院;

关键词：

AMYOTROPHIC-LATERAL-SCLEROSIS; FRONTOTEMPORAL LOBAR DEGENERATION; T7; RNA-POLYMERASE; HEXANUCLEOTIDE REPEAT; G-QUADRUPLEX; GGGGCC REPEAT; R-LOOPS; ANTISENSE OLIGONUCLEOTIDE; MOTOR-NEURONS; NUCLEAR-RNA;

D O I：

10.1038/nrn.2016.38

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

A nucleotide repeat expansion (NRE) within the chromosome 9 open reading frame 72 (C9orf72) gene was the first of this type of mutation to be linked to multiple neurological conditions, including amyotrophic lateral sclerosis and frontotemporal dementia. The pathogenic mechanisms through which the C9orf72 NRE contributes to these disorders include loss of C9orf72 function and gain-of-function mechanisms of C9orf72 driven by toxic RNA and protein species encoded by the NRE. These mechanisms have been linked to several cellular defects-including nucleocytoplasmic trafficking deficits and nuclear stress-that have been observed in both patients and animal models.

引用

页码：383 / U79

页数：13

共 50 条

[31] C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect [J].

Ratti, Antonia ;

Corrado, Lucia ;

Castellotti, Barbara ;

Del Bo, Roberto ;

Fogh, Isabella ;

Cereda, Cristina ;

Tiloca, Cinzia ;

D'Ascenzo, Carla ;

Bagarotti, Alessandra ;

Pensato, Viviana ;

Ranieri, Michela ;

Gagliardi, Stella ;

Calini, Daniela ;

Mazzini, Letizia ;

Taroni, Franco ;

Corti, Stefania ;

Ceroni, Mauro ;

Oggioni, Gaia D. ;

Lin, Kuang ;

Powell, John F. ;

Soraru, Gianni ;

Ticozzi, Nicola ;

Comi, Giacomo P. ;

D'Alfonso, Sandra ;

Gellera, Cinzia ;

Silani, Vincenzo .

NEUROBIOLOGY OF AGING, 2012, 33 (10) :2528.e7-2528.e14

[32] Clinical Evidence of Disease Anticipation in Families Segregating a C9orf72 Repeat Expansion [J].

Van Mossevelde, Sara ;

van der Zee, Julie ;

Gijselinck, Ilse ;

Sleegers, Kristel ;

De Bleecker, Jan ;

Sieben, Anne ;

Vandenberghe, Rik ;

Van Langenhove, Tim ;

Baets, Jonathan ;

Deryck, Olivier ;

Santens, Patrick ;

Ivanoiu, Adrian ;

Willems, Christiana ;

Baeumer, Veerle ;

Van den Broeck, Marleen ;

Peeters, Karin ;

Mattheijssens, Maria ;

De Jonghe, Peter ;

Cras, Patrick ;

Martin, Jean-Jacques ;

Cruts, Marc ;

De Deyn, Peter P. ;

Engelborghs, Sebastiaan ;

Van Broeckhoven, Christine .

JAMA NEUROLOGY, 2017, 74 (04) :445-452

[33] C9ORF72 hexanucleotide repeat expansion: From ALS and FTD to a broader pathogenic role? [J].

Sellier, C. ;

Corcia, P. ;

Vourc'h, P. ;

Dupuis, L. .

REVUE NEUROLOGIQUE, 2024, 180 (05) :417-428

[34] Modelling C9orf72 dipeptide repeat proteins of a physiologically relevant size [J].

Callister, Janis Bennion ;

Ryan, Sarah ;

Sim, Joan ;

Rollinson, Sara ;

Pickering-Brown, Stuart M. .

HUMAN MOLECULAR GENETICS, 2016, 25 (23) :5069-5082

[35] Links Between the C9orf72 Repeat Expansion and Psychiatric Symptoms [J].

Hannah E. Silverman ;

Jill S. Goldman ;

Edward D. Huey .

Current Neurology and Neuroscience Reports, 2019, 19

[36] IDENTICAL TWINS WITH THE C9ORF72 REPEAT EXPANSION ARE DISCORDANT FOR ALS [J].

Xi, Zhengrui ;

Yunusova, Yana ;

van Blitterswijk, Marka ;

Dib, Samar ;

Ghani, Mahdi ;

Moreno, Danielle ;

Sato, Christine ;

Liang, Yan ;

Singleton, Andrew ;

Robertson, Janice ;

Rademakers, Rosa ;

Zinman, Lorne ;

Rogaeva, Ekaterina .

NEUROLOGY, 2014, 83 (16) :1476-1478

[37] Early life involvement in C9orf72 repeat expansion carriers [J].

Gossink, Flora ;

Dols, Annemiek ;

Stek, Max L. ;

Scheltens, Philip ;

Nijmeijer, Bas ;

Cohn Hokke, Petra ;

Dijkstra, Anke ;

Van Ruissen, Fred ;

Aalfs, Cora ;

Pijnenburg, Yolande A. L. .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2022, 93 (01) :93-100

[38] The C9ORF72 hexanucleotide repeat expansion is a rare cause of schizophrenia [J].

Galimberti, Daniela ;

Reif, Andreas ;

Dell'Osso, Bernardo ;

Kittel-Schneider, Sarah ;

Leonhard, Christine ;

Herr, Alexandra ;

Palazzo, Carlotta ;

Villa, Chiara ;

Fenoglio, Chiara ;

Serpente, Maria ;

Cioffi, Sara M. G. ;

Prunas, Cecilia ;

Paoli, Riccardo A. ;

Altamura, A. Carlo ;

Scarpini, Elio .

NEUROBIOLOGY OF AGING, 2014, 35 (05) :1214.e7-1214.e10

[39] Hippocampal sclerosis dementia with the C9ORF72 hexanucleotide repeat expansion [J].

Pletnikova, Olga ;

Sloane, Kelly L. ;

Renton, Alan E. ;

Traynor, Bryan J. ;

Crain, Barbara J. ;

Reid, Tammy ;

Zu, Tao ;

Ranum, Laura P. W. ;

Troncoso, Juan C. ;

Rabins, Peter V. ;

Onyike, Chiadi U. .

NEUROBIOLOGY OF AGING, 2014, 35 (10) :2419.e17-2419.e21

[40] Emerging Perspectives on Dipeptide Repeat Proteins in C9ORF72 ALS/FTD [J].

Schmitz, Alexander ;

Pinheiro Marques, Joao ;

Oertig, Irina ;

Maharjan, Niran ;

Saxena, Smita .

FRONTIERS IN CELLULAR NEUROSCIENCE, 2021, 15

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