Converging Mechanisms in ALS and FTD: Disrupted RNA and Protein Homeostasis

被引：1251

作者：

Ling, Shuo-Chien ^{[1
,2
,3
]}

Polymenidou, Magdalini ^{[1
,3
]}

Cleveland, Don W. ^{[1
,2
,3
]}

机构：

[1] Univ Calif San Diego, Ludwig Inst Canc Res, La Jolla, CA 92093 USA

[2] Univ Calif San Diego, Dept Neurosci, La Jolla, CA 92093 USA

[3] Univ Calif San Diego, Dept Cellular & Mol Med, La Jolla, CA 92093 USA

来源：

NEURON | 2013年 / 79卷 / 03期

关键词：

AMYOTROPHIC-LATERAL-SCLEROSIS; FRONTOTEMPORAL LOBAR DEGENERATION; DNA-BINDING PROTEIN; HEXANUCLEOTIDE REPEAT EXPANSION; MOTOR-NEURON DEGENERATION; SPINAL MUSCULAR-ATROPHY; CELL-FREE FORMATION; PRION-LIKE DOMAINS; STRESS GRANULES; TRANSGENIC MICE;

D O I：

10.1016/j.neuron.2013.07.033

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Breakthrough discoveries identifying common genetic causes for amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) have transformed our view of these disorders. They share unexpectedly similar signatures, including dysregulation in common molecular players including TDP-43, FUS/TLS, ubiquilin-2, VCP, and expanded hexanucleotide repeats within the C9ORF72 gene. Dysfunction in RNA processing and protein homeostasis is an emerging theme. We present the case here that these two processes are intimately linked, with disease-initiated perturbation of either leading to further deviation of both protein and RNA homeostasis through a feedforward loop including cell-to-cell prion-like spread that may represent the mechanism for relentless disease progression.

引用

页码：416 / 438

页数：23

共 253 条

[71] A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study [J].

Gijselinck, Ilse ;

Van Langenhove, Tim ;

van der Zee, Julie ;

Sleegers, Kristel ;

Philtjens, Stephanie ;

Kleinberger, Gernot ;

Janssens, Jonathan ;

Bettens, Karolien ;

Van Cauwenberghe, Caroline ;

Pereson, Sandra ;

Engelborghs, Sebastiaan ;

Sieben, Anne ;

De Jonghe, Peter ;

Vandenberghe, Rik ;

Santens, Patrick ;

De Bleecker, Jan ;

Maes, Githa ;

Baumer, Veerle ;

Dillen, Lubina ;

Joris, Geert ;

Cuijt, Ivy ;

Corsmit, Ellen ;

Elinck, Ellen ;

Van Dongen, Jasper ;

Vermeulen, Steven ;

Van den Broeck, Marleen ;

Vaerenberg, Carolien ;

Mattheijssens, Maria ;

Peeters, Karin ;

Robberecht, Wim ;

Cras, Patrick ;

Martin, Jean-Jacques ;

De Deyn, Peter P. ;

Cruts, Marc ;

Van Broeckhoven, Christine .

LANCET NEUROLOGY, 2012, 11 (01) :54-65

[72] VCP Mutations Causing Frontotemporal Lobar Degeneration Disrupt Localization of TDP-43 and Induce Cell Death [J].

Gitcho, Michael A. ;

Strider, Jeffrey ;

Carter, Deborah ;

Taylor-Reinwald, Lisa ;

Forman, Mark S. ;

Goate, Alison M. ;

Cairns, Nigel J. .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2009, 284 (18) :12384-12398

[73] VAPB interacts with and modulates the activity of ATF6 [J].

Gkogkas, Christos ;

Middleton, Susan ;

Kremer, Anna M. ;

Wardrope, Caroline ;

Hannah, Matthew ;

Gillingwater, Thomas H. ;

Skehel, Paul .

HUMAN MOLECULAR GENETICS, 2008, 17 (11) :1517-1526

[74] Intermolecular transmission of superoxide dismutase 1 misfolding in living cells [J].

Grad, Leslie I. ;

Guest, Will C. ;

Yanai, Anat ;

Pokrishevsky, Edward ;

O'Neill, Megan A. ;

Gibbs, Ebrima ;

Semenchenko, Valentyna ;

Yousefi, Masoud ;

Wishart, David S. ;

Plotkin, Steven S. ;

Cashman, Neil R. .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2011, 108 (39) :16398-16403

[75] ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis [J].

Greenway, MJ ;

Andersen, PM ;

Russ, C ;

Ennis, S ;

Cashman, S ;

Donaghy, C ;

Patterson, V ;

Swingler, R ;

Kieran, D ;

Prehn, J ;

Morrison, KE ;

Green, A ;

Acharya, KR ;

Brown, RH ;

Hardiman, O .

NATURE GENETICS, 2006, 38 (04) :411-413

[76] ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN [J].

Groen, Ewout J. N. ;

Fumoto, Katsumi ;

Blokhuis, Anna M. ;

Engelen-Lee, JooYeon ;

Zhou, Yeping ;

van den Heuvel, Dianne M. A. ;

Koppers, Max ;

van Diggelen, Femke ;

van Heest, Jessica ;

Demmers, Jeroen A. A. ;

Kirby, Janine ;

Shaw, Pamela J. ;

Aronica, Eleonora ;

Spliet, Wim G. M. ;

Veldink, Jan H. ;

van den Berg, Leonard H. ;

Pasterkamp, R. Jeroen .

HUMAN MOLECULAR GENETICS, 2013, 22 (18) :3690-3704

[77] HO-1 induction in motor cortex and intestinal dysfunction in TDP-43 A315T transgenic mice [J].

Guo, Yansu ;

Wang, Qian ;

Zhang, Kunxi ;

An, Ting ;

Shi, Pengxiao ;

Li, Zhongyao ;

Duan, Weisong ;

Li, Chunyan .

BRAIN RESEARCH, 2012, 1460 :88-95

[78] Astrocytes from familial and sporadic ALS patients are toxic to motor neurons [J].

Haidet-Phillips, Amanda M. ;

Hester, Mark E. ;

Miranda, Carlos J. ;

Meyer, Kathrin ;

Braun, Lyndsey ;

Frakes, Ashley ;

Song, SungWon ;

Likhite, Shibi ;

Murtha, Matthew J. ;

Foust, Kevin D. ;

Rao, Meghan ;

Eagle, Amy ;

Kammesheidt, Anja ;

Christensen, Ashley ;

Mendell, Jerry R. ;

Burghes, Arthur H. M. ;

Kaspar, Brian K. .

NATURE BIOTECHNOLOGY, 2011, 29 (09) :824-U79

[79] The functional analysis of the CHMP2B missense mutation associated with neurodegenerative diseases in the endo-lysosomal pathway [J].

Han, Jeong-Ho ;

Ryu, Hyun-Hee ;

Jun, Mi-Hee ;

Jang, Deok-Jin ;

Lee, Jin-A. .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2012, 421 (03) :544-549

[80] Cell-free Formation of RNA Granules: Bound RNAs Identify Features and Components of Cellular Assemblies [J].

Han, Tina W. ;

Kato, Masato ;

Xie, Shanhai ;

Wu, Leeju C. ;

Mirzaei, Hamid ;

Pei, Jimin ;

Chen, Min ;

Xie, Yang ;

Allen, Jeffrey ;

Xiao, Guanghua ;

McKnight, Steven L. .

CELL, 2012, 149 (04) :768-779

← 3 4 5 6 7 8 9 10 11 12 →