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Reactivation of nonsense-mediated mRNA decay protects against C9orf72 dipeptide-repeat neurotoxicity.Brain. 2019 May 1;142(5):1349-1364. doi: 10.1093/brain/awz070.
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Cell death in amyotrophic lateral sclerosis: interplay between neuronal and glial cells.FASEB J. 2004 Aug;18(11):1261-3. doi: 10.1096/fj.03-1199fje. Epub 2004 Jun 18.
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Specific induction of Akt3 in spinal cord motor neurons is neuroprotective in a mouse model of familial amyotrophic lateral sclerosis.Mol Neurobiol. 2014 Feb;49(1):136-48. doi: 10.1007/s12035-013-8507-6. Epub 2013 Jul 20.
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The gene encoding the glutamate receptor subunit GluR5 is located on human chromosome 21q21.1-22.1 in the vicinity of the gene for familial amyotrophic lateral sclerosis.Proc Natl Acad Sci U S A. 1993 Jan 1;90(1):178-82. doi: 10.1073/pnas.90.1.178.
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Respiration Enhances TDP-43 Toxicity, but TDP-43 Retains Some Toxicity in the Absence of Respiration.J Mol Biol. 2019 May 3;431(10):2050-2059. doi: 10.1016/j.jmb.2019.03.014. Epub 2019 Mar 21.
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Gp78, an ER associated E3, promotes SOD1 and ataxin-3 degradation.Hum Mol Genet. 2009 Nov 15;18(22):4268-81. doi: 10.1093/hmg/ddp380. Epub 2009 Aug 6.
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Differential expression of inflammation- and apoptosis-related genes in spinal cords of a mutant SOD1 transgenic mouse model of familial amyotrophic lateral sclerosis.J Neurochem. 2002 Jan;80(1):158-67. doi: 10.1046/j.0022-3042.2001.00683.x.
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Familial amyotrophic lateral sclerosis (FALS)-linked SOD1 mutation accelerates neuronal cell death by activating cleavage of caspase-4 under ER stress in an in vitro model of FALS.Neurochem Int. 2010 Dec;57(7):838-43. doi: 10.1016/j.neuint.2010.08.023. Epub 2010 Sep 21.
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Early onset of severe familial amyotrophic lateral sclerosis with a SOD-1 mutation: potential impact of CNTF as a candidate modifier gene.Am J Hum Genet. 2002 May;70(5):1277-86. doi: 10.1086/340427. Epub 2002 Apr 9.
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The glycinamide ribonucleotide transformylase (GART) gene is not responsible for familial amyotrophic lateral sclerosis.Neuromuscul Disord. 1993 Mar;3(2):157-60. doi: 10.1016/0960-8966(93)90008-8.
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GNE missense mutation in recessive familial amyotrophic lateral sclerosis.Neurogenetics. 2017 Dec;18(4):237-243. doi: 10.1007/s10048-017-0527-3. Epub 2017 Oct 31.
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Antisense peptide nucleic acid targeting GluR3 delays disease onset and progression in the SOD1 G93A mouse model of familial ALS.J Neurosci Res. 2004 Aug 15;77(4):573-82. doi: 10.1002/jnr.20191.
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Heat shock factor 1 over-expression protects against exposure of hydrophobic residues on mutant SOD1 and early mortality in a mouse model of amyotrophic lateral sclerosis.Mol Neurodegener. 2013 Nov 21;8:43. doi: 10.1186/1750-1326-8-43.
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Structural, stability, dynamic and binding properties of the ALS-causing T46I mutant of the hVAPB MSP domain as revealed by NMR and MD simulations.PLoS One. 2011;6(11):e27072. doi: 10.1371/journal.pone.0027072. Epub 2011 Nov 1.
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A gene-environment study of the paraoxonase 1 gene and pesticides in amyotrophic lateral sclerosis.Neurotoxicology. 2007 May;28(3):532-40. doi: 10.1016/j.neuro.2006.11.007. Epub 2006 Nov 26.
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Unveiling the structural features of nonnative trimers of human superoxide dismutase 1.Biochim Biophys Acta Gen Subj. 2020 Mar;1864(3):129483. doi: 10.1016/j.bbagen.2019.129483. Epub 2019 Nov 14.
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50-Hz magnetic field impairs the expression of iron-related genes in the in vitro SOD1(G93A) model of amyotrophic lateral sclerosis.Int J Radiat Biol. 2019 Mar;95(3):368-377. doi: 10.1080/09553002.2019.1552378. Epub 2019 Jan 4.
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Association of Mutations in TBK1 With Sporadic and Familial Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.JAMA Neurol. 2017 Jan 1;74(1):110-113. doi: 10.1001/jamaneurol.2016.3712.
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The involvement of endoplasmic reticulum formation and protein synthesis efficiency in VCP- and ATL1-related neurological disorders.J Biomed Sci. 2018 Jan 8;25(1):2. doi: 10.1186/s12929-017-0403-3.
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Increased incidence of FMO1 gene single nucleotide polymorphisms in sporadic amyotrophic lateral sclerosis.Amyotroph Lateral Scler. 2006 Dec;7(4):227-34. doi: 10.1080/17482960600864413.
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CMS-01 Genetic testing for familial amyotrophic lateral sclerosis (ALS): insights and challenges.Amyotroph Lateral Scler Frontotemporal Degener. 2019 Nov;20(sup1):327-347. doi: 10.1080/21678421.2019.1647002.
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Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
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Translation of dipeptide repeat proteins from the C9ORF72 expanded repeat is associated with cellular stress.Neurobiol Dis. 2018 Aug;116:155-165. doi: 10.1016/j.nbd.2018.05.009. Epub 2018 May 22.
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A Drosophila model of ALS reveals a partial loss of function of causative human PFN1 mutants.Hum Mol Genet. 2017 Jun 1;26(11):2146-2155. doi: 10.1093/hmg/ddx112.
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A novel Akt/PKB-interacting protein promotes cell adhesion and inhibits familial amyotrophic lateral sclerosis-linked mutant SOD1-induced neuronal death via inhibition of PP2A-mediated dephosphorylation of Akt/PKB.Cell Signal. 2008 Mar;20(3):493-505. doi: 10.1016/j.cellsig.2007.11.004. Epub 2007 Nov 17.
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Detection of a novel frameshift mutation and regions with homozygosis within ARHGEF28 gene in familial amyotrophic lateral sclerosis.Amyotroph Lateral Scler Frontotemporal Degener. 2013 Sep;14(5-6):444-51. doi: 10.3109/21678421.2012.758288. Epub 2013 Jan 4.
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Genetic analysis of CHCHD10 in French familial amyotrophic lateral sclerosis patients.Neurobiol Aging. 2016 Jun;42:218.e1-3. doi: 10.1016/j.neurobiolaging.2016.03.022. Epub 2016 Mar 24.
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Interplay of Cu,Zn superoxide dismutase and nitric oxide synthase in neurodegenerative processes.IUBMB Life. 2003 Oct-Nov;55(10-11):629-34. doi: 10.1080/15216540310001628717.
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GDE2 is essential for neuronal survival in the postnatal mammalian spinal cord.Mol Neurodegener. 2017 Jan 19;12(1):8. doi: 10.1186/s13024-017-0148-1.
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Elevated Global DNA Methylation Is Not Exclusive to Amyotrophic Lateral Sclerosis and Is Also Observed in Spinocerebellar Ataxia Types 1 and 2.Neurodegener Dis. 2018;18(1):38-48. doi: 10.1159/000486201. Epub 2018 Feb 9.
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Analysis of the KSP repeat of the neurofilament heavy subunit in familiar amyotrophic lateral sclerosis.Neurology. 1996 Mar;46(3):789-90. doi: 10.1212/wnl.46.3.789.
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Nuclear contour irregularity and abnormal transporter protein distribution in anterior horn cells in amyotrophic lateral sclerosis.J Neuropathol Exp Neurol. 2009 Nov;68(11):1184-92. doi: 10.1097/NEN.0b013e3181bc3bec.
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Multiple Proteinopathies in Familial ALS Cases With Optineurin Mutations.J Neuropathol Exp Neurol. 2018 Feb 1;77(2):128-138. doi: 10.1093/jnen/nlx109.
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Dysregulation of stathmin, a microtubule-destabilizing protein, and up-regulation of Hsp25, Hsp27, and the antioxidant peroxiredoxin 6 in a mouse model of familial amyotrophic lateral sclerosis.Am J Pathol. 2004 Nov;165(5):1701-18. doi: 10.1016/S0002-9440(10)63426-8.
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Histological evidence of redox system breakdown caused by superoxide dismutase 1 (SOD1) aggregation is common to SOD1-mutated motor neurons in humans and animal models.Acta Neuropathol. 2004 Feb;107(2):149-58. doi: 10.1007/s00401-003-0791-1. Epub 2003 Nov 27.
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Chromosome-wide assessment of replication timing for human chromosomes 11q and 21q: disease-related genes in timing-switch regions.Hum Mol Genet. 2002 Jan 1;11(1):13-21. doi: 10.1093/hmg/11.1.13.
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mRNA and protein levels of FUS, EWSR1, and TAF15 are upregulated in liposarcoma.Genes Chromosomes Cancer. 2011 May;50(5):338-47. doi: 10.1002/gcc.20858. Epub 2011 Feb 22.
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Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin.Neurobiol Aging. 2015 Dec;36(12):3334.e1-3334.e5. doi: 10.1016/j.neurobiolaging.2015.08.013. Epub 2015 Aug 18.
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