Unraveling the role of motoneuron autophagy in ALS

References

• Taylor JP, Brown RH Jr., Cleveland DW. Decoding ALS: from genes to mechanism. Nature. 2016;539(7628):197–206. doi:10.1038/nature20413. PubMed PMID: 27830784.
   PubMed Web of Science ®Google Scholar
• Al-Chalabi A, van den Berg LH, Veldink J. Gene discovery in amyotrophic lateral sclerosis: implications for clinical management. Nat Rev Neurol. 2016;13(2):96–104. doi:10.1038/nrneurol.2016.182. PubMed PMID: 27982040.
   PubMed Web of Science ®Google Scholar
• Nassif M, Woehlbier U, Manque PA. The enigmatic role of C9ORF72 in Autophagy. Front Neurosci. 2017;11:442. doi:10.3389/fnins.2017.00442. PubMed PMID: 28824365; PubMed Central PMCID: PMC5541066.
   PubMed Web of Science ®Google Scholar
• Sellier C, Campanari ML, Julie Corbier C, et al. Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death. EMBO J. 2016;35(12):1276–1297. doi:10.15252/embj.201593350. PubMed PMID: 27103069; PubMed Central PMCID: PMC4910533.
   PubMed Web of Science ®Google Scholar
• Ugolino J, Ji YJ, Conchina K, et al. Loss of C9orf72 enhances autophagic activity via deregulated mTOR and TFEB signaling. PLoS Genet. 2016;12(11):e1006443. doi:10.1371/journal.pgen.1006443. PubMed PMID: 27875531.
   PubMed Web of Science ®Google Scholar
• Hetz C, Thielen P, Matus S, et al. XBP-1 deficiency in the nervous system protects against amyotrophic lateral sclerosis by increasing autophagy. Genes Dev. 2009;23(19):2294–2306. doi:10.1101/gad.1830709. PubMed PMID: 19762508; PubMed Central PMCID: PMC2758741.
   PubMed Web of Science ®Google Scholar
• Tokuda E, Brannstrom T, Andersen PM, et al. Low autophagy capacity implicated in motor system vulnerability to mutant superoxide dismutase. Acta Neuropathol Commun. 2016;4:6. doi:10.1186/s40478-016-0274-y. PubMed PMID: 26810478; PubMed Central PMCID: PMC4727314.
   PubMed Web of Science ®Google Scholar
• Vidal RL, Matus S, Bargsted L, et al. Targeting autophagy in neurodegenerative diseases. Trends Pharmacol Sci. 2014;35(11):583–591. doi:10.1016/j.tips.2014.09.002. PubMed PMID: 25270767.
   PubMed Web of Science ®Google Scholar
• Wang IF, Guo BS, Liu YC, et al. Autophagy activators rescue and alleviate pathogenesis of a mouse model with proteinopathies of the TAR DNA-binding protein 43. Proc Natl Acad Sci USA. 2012;109(37):15024–15029. doi:10.1073/pnas.1206362109. PubMed PMID: 22932872; PubMed Central PMCID: PMC3443184.
   PubMed Web of Science ®Google Scholar
• Zhang X, Li L, Chen S, et al. Rapamycin treatment augments motor neuron degeneration in SOD1(G93A) mouse model of amyotrophic lateral sclerosis. Autophagy. 2011;7(4):412–425. PubMed PMID: 21193837. doi:10.4161/auto.7.4.14541.
   PubMed Web of Science ®Google Scholar
• Bhattacharya A, Bokov A, Muller FL, et al. Dietary restriction but not rapamycin extends disease onset and survival of the H46R/H48Q mouse model of ALS. Neurobiol Aging. 2012; 33(8):1829–1832. doi:10.1016/j.neurobiolaging.2011.06.002. PubMed PMID: 21763036.
   PubMed Web of Science ®Google Scholar
• Castillo K, Nassif M, Valenzuela V, et al. Trehalose delays the progression of amyotrophic lateral sclerosis by enhancing autophagy in motoneurons. Autophagy. 2013;9(9):1308–1320. doi:10.4161/auto.25188. PubMed PMID: 23851366.
   PubMed Web of Science ®Google Scholar
• Li Y, Guo Y, Wang X, et al. Trehalose decreases mutant SOD1 expression and alleviates motor deficiency in early but not end-stage amyotrophic lateral sclerosis in a SOD1-G93A mouse model. Neuroscience. 2015;298:12–25. doi10.1016/j.neuroscience.2015.03.061. PubMed PMID: 25841320.
   PubMed Web of Science ®Google Scholar
• Zhang X, Chen S, Song L, et al. MTOR-independent, autophagic enhancer trehalose prolongs motor neuron survival and ameliorates the autophagic flux defect in a mouse model of amyotrophic lateral sclerosis. Autophagy. 2014;10(4):588–602. doi:10.4161/auto.27710. PubMed PMID: 24441414; PubMed Central PMCID: PMC4091147.
   PubMed Web of Science ®Google Scholar
• Nassif M, Valenzuela V, Rojas-Rivera D, et al. Pathogenic role of BECN1/Beclin 1 in the development of amyotrophic lateral sclerosis. Autophagy. 2014;10(7):1256–1271. doi:10.4161/auto.28784. PubMed PMID: 24905722; PubMed Central PMCID: PMC4203551.
   PubMed Web of Science ®Google Scholar
• Rudnick ND, Griffey CJ, Guarnieri P, et al. Distinct roles for motor neuron autophagy early and late in the SOD1G93A mouse model of ALS. Proc Natl Acad Sci USA. 2017;114(39):E8294–E8303. doi:10.1073/pnas.1704294114. PubMed PMID: 28904095.
   PubMed Web of Science ®Google Scholar
• Kanning KC, Kaplan A, Henderson CE. Motor neuron diversity in development and disease. Ann Rev Neurosci. 2010;33:409–440. doi:10.1146/annurev.neuro.051508.135722. PubMed PMID: 20367447.
   PubMed Web of Science ®Google Scholar
• Vinsant S, Mansfield C, Jimenez-Moreno R, et al. Characterization of early pathogenesis in the SOD1(G93A) mouse model of ALS: part II, results and discussion. Brain Behav. 2013;3(4):431–457. doi:10.1002/brb3.142. PubMed PMID: 24381813; PubMed Central PMCID: PMC3869683.
   PubMed Web of Science ®Google Scholar
• Wilhelm T, Byrne J, Medina R, et al. Neuronal inhibition of the autophagy nucleation complex extends life span in post-reproductive C. elegans. Genes Dev. 2017;31(15):1561–1572. doi:10.1101/gad.301648.117. PubMed PMID: 28882853; PubMed Central PMCID: PMC5630021.
   PubMed Web of Science ®Google Scholar
• Carmona-Gutierrez D, Hughes AL, Madeo F, et al. The crucial impact of lysosomes in aging and longevity. Ageing Res Rev. 2016;32:2–12. doi:10.1016/j.arr.2016.04.009. PubMed PMID: 27125853; PubMed Central PMCID: PMC5081277.
   PubMed Web of Science ®Google Scholar
• Cuervo AM. Autophagy and aging: keeping that old broom working. Trends Genet. 2008;24(12):604–612. doi:10.1016/j.tig.2008.10.002. PubMed PMID: 18992957; PubMed Central PMCID: PMC2745226.
   PubMed Web of Science ®Google Scholar
• Nixon RA. The role of autophagy in neurodegenerative disease. Nat Med. 2013;19(8):983–997. doi:10.1038/nm.3232. PubMed PMID: 23921753.
   PubMed Web of Science ®Google Scholar
• Rubinsztein DC, Marino G, Kroemer G. Autophagy and aging. Cell. 2011;146(5):682–695. doi:10.1016/j.cell.2011.07.030. PubMed PMID: 21884931.
   PubMed Web of Science ®Google Scholar
• Hetz C, Saxena S. ER stress and the unfolded protein response in neurodegeneration. Nat Rev Neurol. 2017;13(8):477–491. doi:10.1038/nrneurol.2017.99. PubMed PMID: 28731040.
   PubMed Web of Science ®Google Scholar
• Saxena S, Cabuy E, et al. A role for motoneuron subtype-selective ER stress in disease manifestations of FALS mice. Nature Neurosci. 2009;12(5):627–636. doi:10.1038/nn.2297. PubMed PMID: 19330001.
   PubMed Web of Science ®Google Scholar
• Sun S, Sun Y, Ling SC, et al. Translational profiling identifies a cascade of damage initiated in motor neurons and spreading to glia in mutant SOD1-mediated ALS. Proc Natl Acad Sci USA. 2015;112(50):E6993–E7002. doi: 10.1073/pnas.1520639112. PubMed PMID: 26621731; PubMed Central PMCID: PMC4687558.
   PubMed Web of Science ®Google Scholar
• Gonzalez-Perez P, Woehlbier U, Chian RJ, et al. Identification of rare protein disulfide isomerase gene variants in amyotrophic lateral sclerosis patients. Gene. 2015;566(2):158–165. doi:10.1016/j.gene.2015.04.035. PubMed PMID: 25913742; PubMed Central PMCID: PMC5553116.
   PubMed Web of Science ®Google Scholar
• Bernard-Marissal N, Sunyach C, Marissal T, et al. Calreticulin levels determine onset of early muscle denervation by fast motoneurons of ALS model mice. Neurobiol Dis. 2015;73:130–136. doi:10.1016/j.nbd.2014.09.009. PubMed PMID: 25277755.
   PubMed Web of Science ®Google Scholar
• Woehlbier U, Colombo A, Saaranen MJ, et al. ALS‐linked protein disulfide isomerase variants cause motor dysfunction. EMBO J. 2016;35(8):845–865. doi:10.15252/embj.201592224. PMID:26869642.
   PubMed Web of Science ®Google Scholar
• Xie Y, Zhou B, Lin MY, et al. Progressive endolysosomal deficits impair autophagic clearance beginning at early asymptomatic stages in fALS mice. Autophagy. 2015;11(10):1934–1936. doi:10.1080/15548627.2015.1084460. PubMed PMID: 26290961.
   PubMed Web of Science ®Google Scholar
• Xie Y, Zhou B, Lin MY, et al. Endolysosomal deficits augment mitochondria pathology in spinal motor neurons of asymptomatic fALS Mice. Neuron. 2015;87(2):355–370. doi:10.1016/j.neuron.2015.06.026. PubMed PMID: 26182418; PubMed Central PMCID: PMC4511489.
   PubMed Web of Science ®Google Scholar
• Brockington A, Ning K, Heath PR, et al. Unravelling the enigma of selective vulnerability in neurodegeneration: motor neurons resistant to degeneration in ALS show distinct gene expression characteristics and decreased susceptibility to excitotoxicity. Acta Neuropathol. 2013;125(1):95–109. doi:10.1007/s00401-012-1058-5. PubMed PMID: 23143228; PubMed Central PMCID: PMC3535376.
   PubMed Web of Science ®Google Scholar
• Dirren E, Towne CL, Setola V, et al. Intracerebroventricular injection of adeno-associated virus 6 and 9 vectors for cell type-specific transgene expression in the spinal cord. Hum Gene Ther. 2014;25(2):109–120. doi: 10.1089/hum.2013.021. PubMed PMID: 24191919.
   PubMed Web of Science ®Google Scholar
• Deverman BE, Pravdo PL, Simpson BP, et al. Cre-dependent selection yields AAV variants for widespread gene transfer to the adult brain. Nat Biotechnol. 2016;34(2):204–209. doi: 10.1038/nbt.3440. PubMed PMID: 26829320; PubMed Central PMCID: PMC5088052.
   PubMed Web of Science ®Google Scholar
• Kaplan A, Spiller KJ, Towne C, et al. Neuronal matrix metalloproteinase-9 is a determinant of selective neurodegeneration. Neuron. 2014;81(2):333–348. doi:10.1016/j.neuron.2013.12.009. PubMed PMID: 24462097.
   PubMed Web of Science ®Google Scholar
• Nassif M, Hetz C. Targeting autophagy in ALS: a complex mission. Autophagy. 2011;7(4):450–453. doi:10.4161/auto.7.4.14700. PubMed PMID: 21252621.
   PubMed Web of Science ®Google Scholar