Amyotrophic lateral sclerosis: translating genetic discoveries into therapies

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

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Ubiquitinated TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis

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Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

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A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

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The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

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An Expanded View of Complex Traits: From Polygenic to Omnigenic

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TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

Sreedharan, J., Blair, I. P., Tripathi, V. B., Hu, X., Vance, C., Rogelj, B., Ackerley, S., Durnall, J. C., Williams, K. L., Buratti, E., et al. (2008) · Science · doi:10.1126/science.1154584 · Cited by 2,630 · see citing works

Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6

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Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

Kwiatkowski, T. J., Bosco, D. A., LeClerc, A. L., Tamrazian, E., Vanderburg, C. R., Russ, C., Davis, A., Gilchrist, J. M., Kasarskis, E. J., Munsat, T. L., et al. (2009) · Science · doi:10.1126/science.1166066 · Cited by 2,526 · see citing works

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

Finkel, R. S., Mercuri, E., Darras, B. T., Connolly, A. M., Kuntz, N. L., Kirschner, J., Chiriboga, C. A., Saito, K., Servais, L., Tizzano, E., et al. (2017) · New England Journal of Medicine · doi:10.1056/nejmoa1702752 · Cited by 2,337 · see citing works

A Controlled Trial of Riluzole in Amyotrophic Lateral Sclerosis

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Advances in oligonucleotide drug delivery

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CRISPR-Cas9 Gene Editing for Sickle Cell Disease and β-Thalassemia

Frangoul, H., Altshuler, D., Cappellini, M. D., Chen, Y.-S., Domm, J., Eustace, B. K., Foell, J., de la Fuente, J., Grupp, S., Handgretinger, R., et al. (2021) · New England Journal of Medicine · doi:10.1056/nejmoa2031054 · Cited by 1,962 · see citing works

Amyotrophic Lateral Sclerosis

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State of play in amyotrophic lateral sclerosis genetics

Renton, A. E., Chiò, A., & Traynor, B. J. (2013) · Nature Neuroscience · doi:10.1038/nn.3584 · Cited by 1,563 · see citing works

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

Kabashi, E., Valdmanis, P. N., Dion, P., Spiegelman, D., McConkey, B. J., Velde, C. V., Bouchard, J.-P., Lacomblez, L., Pochigaeva, K., Salachas, F., et al. (2008) · Nature Genetics · doi:10.1038/ng.132 · Cited by 1,544 · see citing works

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

Kim, H. J., Kim, N. C., Wang, Y., Scarborough, E. A., Moore, J., Diaz, Z., MacLea, K. S., Freibaum, B. D., Li, S., Molliex, A., et al. (2013) · Nature · doi:10.1038/nature11922 · Cited by 1,476 · see citing works

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

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Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

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Mutations of optineurin in amyotrophic lateral sclerosis

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Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

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Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

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Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

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Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS

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A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis

Nishimura, A. L., Mitne‐Neto, M., da Silva, H. C. A., Richieri‐Costa, A., Middleton, S., Cascio, D., Kok, F., de Oliveira, J. R. M., Gillingwater, T. H., Webb, J., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/425287 · Cited by 995 · see citing works

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Cirulli, E. T., Lasseigne, B. N., Petrovski, S., Sapp, P. C., Dion, P. A., Leblond, C. S., Couthouis, J., Lu, Y.-F., Wang, Q., Krueger, B. J., et al. (2015) · Science · doi:10.1126/science.aaa3650 · Cited by 966 · see citing works

Mutant dynactin in motor neuron disease

Puls, I., Jonnakuty, C., LaMonte, B. H., Holzbaur, E. L. F., Tokito, M. K., MANN, E. A., Floeter, M. K., Bidus, K., Drayna, D. T., Oh, S. J., et al. (2003) · Nature Genetics · doi:10.1038/ng1123 · Cited by 961 · see citing works

Safety and efficacy of edaravone in well defined patients with amyotrophic lateral sclerosis: a randomised, double-blind, placebo-controlled trial

Abe, K., Aoki, M., Tsuji, S., Itoyama, Y., Sobue, G., Togo, M., Hamada, C., Tanaka, M., Akimoto, M., Nakamura, K., et al. (2017) · The Lancet Neurology · doi:10.1016/s1474-4422(17)30115-1 · Cited by 942 · see citing works

Global Epidemiology of Amyotrophic Lateral Sclerosis: A Systematic Review of the Published Literature

Chiò, A., Logroscino, G., Traynor, B. J., Collins, J., Simeone, J. C., Goldstein, L. A., & White, L. A. (2013) · Neuroepidemiology · doi:10.1159/000351153 · Cited by 862 · see citing works

GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport

Freibaum, B. D., Lu, Y., Lopez-Gonzalez, R., Kim, N. C., Almeida, S., Lee, K.-H., Badders, N., Valentine, M., Miller, B. L., Wong, P. C., et al. (2015) · Nature · doi:10.1038/nature14974 · Cited by 841 · see citing works

Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia

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Knocking down disease: a progress report on siRNA therapeutics

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DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4)

Chen, Y.-Z., Bennett, C. L., Huynh, H. M., Blair, I. P., Puls, I., Irobi, J., Dierick, I., Abel, A., Kennerson, M. L., Rabin, B. A., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/421054 · Cited by 809 · see citing works

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

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Causes

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The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis

Yang, Y., Hentati, A., Deng, H.-X., Dabbagh, O., Sasaki, T., Hirano, M., Hung, W.-Y., Ouahchi, K., Yan, J., Azim, A. C., et al. (2001) · Nature Genetics · doi:10.1038/ng1001-160 · Cited by 743 · see citing works

C9orf72-mediated ALS and FTD: multiple pathways to disease

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Targeting Huntingtin Expression in Patients with Huntington’s Disease

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Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS

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TDP-43 repression of nonconserved cryptic exons is compromised in ALS-FTD

Ling, J. P., Pletniková, O., Troncoso, J. C., & Wong, P. C. (2015) · Science · doi:10.1126/science.aab0983 · Cited by 673 · see citing works

Genome-Wide Analyses Identify KIF5A as a Novel ALS Gene

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<emph type="ital">SQSTM1</emph> Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

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Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

Wu, C.-H., Fallini, C., Ticozzi, N., Keagle, P. J., Sapp, P. C., Piotrowska, K., Lowe, P., Koppers, M., McKenna-Yasek, D. M., Baron, D. M., et al. (2012) · Nature · doi:10.1038/nature11280 · Cited by 600 · see citing works

Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications

Chia, R., Chiò, A., & Traynor, B. J. (2017) · The Lancet Neurology · doi:10.1016/s1474-4422(17)30401-5 · Cited by 576 · see citing works

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

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Therapeutic reduction of ataxin-2 extends lifespan and reduces pathology in TDP-43 mice

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Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons

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Dyslipidemia is a protective factor in amyotrophic lateral sclerosis

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Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

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A Kinesin Heavy Chain (KIF5A) Mutation in Hereditary Spastic Paraplegia (SPG10)

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Controversies and priorities in amyotrophic lateral sclerosis

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Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis

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Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

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Epidemiology of mutations in superoxide dismutase in amyotrophic lateal sclerosis

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TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A

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Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules

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Prion-like Properties of Pathological TDP-43 Aggregates from Diseased Brains

Nonaka, T., Masuda‐Suzukake, M., Arai, T., Hasegawa, Y., Akatsu, H., Obi, T., Yoshida, M., Murayama, S., Mann, D. M. A., Akiyama, H., et al. (2013) · Cell Reports · doi:10.1016/j.celrep.2013.06.007 · Cited by 520 · see citing works

Antisense oligonucleotide therapy for neurodegenerative disease

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Silencing mutant SOD1 using RNAi protects against neurodegeneration and extends survival in an ALS model

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A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

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Human endogenous retrovirus-K contributes to motor neuron disease

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Projected increase in amyotrophic lateral sclerosis from 2015 to 2040

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Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis

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Lentiviral-mediated silencing of SOD1 through RNA interference retards disease onset and progression in a mouse model of ALS

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The role of TDP-43 mislocalization in amyotrophic lateral sclerosis

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Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

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Using genetic data to strengthen causal inference in observational research

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Spatiotemporal dynamics of molecular pathology in amyotrophic lateral sclerosis

Maniatis, S., Äijö, T., Vickovic, S., Braine, C., Kang, K., Mollbrink, A., Fagegaltier, D., Andrusivová, Ž., Saarenpää, S., Saiz-Castro, G., et al. (2019) · Science · doi:10.1126/science.aav9776 · Cited by 429 · see citing works

Analysis of amyotrophic lateral sclerosis as a multistep process: a population-based modelling study

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Emerging insights into the complex genetics and pathophysiology of amyotrophic lateral sclerosis

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Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

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ALS phenotypes with mutations in <i>CHMP2B</i> (charged multivesicular body protein 2B)

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Linkage of a Gene Causing Familial Amyotrophic Lateral Sclerosis to Chromosome 21 and Evidence of Genetic-Locus Heterogeneity

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Hereditary Sensory Neuropathy Type 1 Is Caused by the Accumulation of Two Neurotoxic Sphingolipids

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