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Journal of the Neurological Sciences
Volume 288, Issue 1
, Pages 1-12
, 15 January 2010
The evidence for altered RNA metabolism in amyotrophic lateral sclerosis (ALS)
References
- . The evidence for ALS as a multisystems disorder of limited phenotypic expression. Can J Neurol Sci. 2001;28:283–298
- . The syndromes of frontotemporal dysfunction in amyotrophic lateral sclerosis. Amyotroph Lateral Scler. 2008;9:323–338
- Consensus criteria for the diagnosis of frontotemporal cognitive and behavioural syndromes in amyotrophic lateral sclerosis. Amyotroph Lateral Scler. 2009;10:131–146
- Wild-type nonneuronal cells extend survival of SOD1 mutant motor neurons in ALS mice. Science. 2003;302:113–117
- . Innate immunity in amyotrophic lateral sclerosis. Biochim Biophys Acta. 2006;1762:1083–1093
- . Microglia as potential contributors to motor neuron injury in amyotrophic lateral sclerosis. Glia. 2005;51:241–253
- . Exacerbation of motor neuron disease by chronic stimulation of innate immunity in a mouse model of amyotrophic lateral sclerosis. J Neurosci. 2004;24:1340–1349
- Cell death in amyotrophic lateral sclerosis: interplay between neuronal and glial cells. FASEB J. 2004;18:1261–1293
- . The pathobiology of amyotrophic lateral sclerosis: a proteinopathy?. J Neuropathol Exp Neurol. 2005;64:649–664
- Antibody to an abnormal protein in amyotrophic lateral sclerosis identifies Lewy body-like inclusion in ALS and Lewy bodies in Parkinson's disease. Neurosci Lett. 1993;160:13–16
- . Peripherin immunoreactive structures in amyotrophic lateral sclerosis. Lab Invest. 1993;68:185–191
- . A 14-3-3 mRNA is up-regulated in amyotrophic lateral sclerosis spinal cord. J Neurochem. 2000;75:2511–2520
- . 14-3-3 proteins in Lewy body-like hyaline inclusion in patients with sporadic amyotrophic lateral sclerosis. Acta Neuropathol. 2004;108:531–537
- . Colocalization of NOS and SOD1 in neurofilament accumulation within motor neurons of amyotrophic lateral sclerosis: an immunohistochemical study. J Chem Neuroanat. 1996;10:249–258
- . Amyotrophic lateral sclerosis associated with genetic abnormalities in the gene encoding Cu/Zn superoxide dismutase: molecular pathology of five new cases, and comparison with previous reports and 73 sporadic cases of ALS. J Neuropathol Exp Neurol. 1998;57:895–904
- . Immunohistochemical demonstration of Cu/Zn superoxide dismutase in the spinal cord of patients with familial amyotrophic lateral sclerosis. Acta Histochem Cytochem. 1993;26:619–621
- TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Biochem Biophys Res Commun. 2006;351:602–611
- Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science. 2006;314:130–133
- Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science. 2009;323:1205–1208
- Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science. 2009;323:1208–1211
- . Neurofilament light and polyadenylated mRNA levels are decreased in amyotrophic lateral sclerosis motor neurons. J Neuropathol Exp Neurol. 1994;53:221–230
- . Characterization of neuronal intermediate filament protein expression in cervical spinal motor neurons in sporadic amyotrophic lateral sclerosis (ALS). J Neuropathol Exp Neurol. 2000;59:972–982
- Selective loss of neurofilament expression in Cu/Zn superoxide dismutase (SOD1) linked amyotrophic lateral sclerosis. J Neurochem. 2002;82:1118–1128
- . RNA–protein interactions and control of mRNA stability in neurons. J Neurosci Res. 2008;86:481–489
- . Function and regulation of local axonal translation. Curr Opin Neurobiol. 2008;18:60–68
- . Eukaryotic mRNPs may represent posttranscriptional operons. Mol Cell. 2002;9:1161–1167
- . RNA regulons: coordination of post-transcriptional events. Nat Rev Genet. 2007;8:533–543
- . RNA granules. J Cell Biol. 2006;172:803–808
- . RNA-binding proteins in human genetic disease. Trends Genet. 2008;24:416–425
- . TDP-43, the signature protein of FTLD-U, is a neuronal activity responsive factor. J Neurochem. 2008;105:797–806
- . mRNA transport in dendrites: RNA granules, motors and tracks. J Neurosci. 2006;26:7139–7142
- . Kinesin transports RNA: isolation and characterization of an RNA-transporting granule. Neuron. 2004;43:513–525
- Stress granules and processing bodies are dynamically linked sites of mRNP remodeling. J Cell Biol. 2005;169:871–884
- . Stress granules: the Tao of RNA triage. Trends Biochem Sci. 2008;33:141–150
- Staufen- and FMRP-containing neuronal RNPs are structurally and functionally related to somatic P bodies. Neuron. 2006;52:997–1009
- . MicroRNAs as prognostic indicators and therapeutic targets: potential effect on breast cancer management. Clin Cancer Res. 2008;14:360–365
- TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science. 2008;319:1668–1672
- . Posttranscriptional control of neuronal development by microRNA networks. Trends Neurosci. 2008;31:20–26
- A brain-specific microRNA regulates dendritic spine development. Nature. 2006;439:283–289
- . RNA in brain disease: no longer just “the messenger in the middle”. J Neuropathol Exp Neurol. 2007;66:461–468
- . MicroRNAs (miRNAs) in neurodegenerative diseases. Brain Pathol. 2008;18:130–138
- . Alteration of the microRNA network cause neurodegenerative disease. Trends Neurosci. 2009;32:199–206
- . MicroRNA-298 and microRNA-328 regulate expression of mouse β-amyloid precursor protein converting enzyme 1. J Biol Chem. 2009;284:1971–1981
- . miRNA signature of prion induced neurodegeneration. PLoS ONE. 2008;3:e3652
- . Small RNAs in development and disease. J Am Acad Dermatol. 2008;59:725–737
- . MicroRNA function: multiple mechanisms for a tiny RNA?. RNA. 2005;11:1753–1761
- The microprocessor complex mediates the genesis of microRNAs. Nature. 2004;432:235–240
- . MicroRNAs: biogenesis and molecular functions. Brain Pathol. 2008;18:121
- . RNAi and the P-body connection. Nat Cell Biol. 2005;7:643–644
- . P-bodies take a RISC. Nat Struct Mol Biol. 2005;12:564
- . MicroRNA-dependent localization of targeted mRNAs to mammalian P-bodies. Nat Cell Biol. 2005;7:719–726
- . Neuronal regulation of alternative pre-mRNA splicing. Nat Rev Neurosci. 2007;8:819–831
- . Peripherin and neurofilament protein coexist in spinal spheroids of motor neuron disease. J Neuropathol Exp Neurol. 1999;51:531–537
- A neurotoxic peripherin splice variant in a mouse model of ALS. J Cell Biol. 2003;160:939–949
- An aggregate-inducing peripherin isoform generated through intron retention is upregulated in amyotrophic lateral sclerosis and associated with disease pathology. J Neurosci. 2008;28:1833–1840
- . Evidence that TDP-43 is not the major ubiquitinated target within the pathological inclusions of amyotrophic lateral sclerosis. J Neuropathol Exp Neurol. 2007;66:1147–1153
- Aberrant RNA processing in a neurodegenerative disease: the cause for absent EAAT2, a glutamate transporter, in amyotrophic lateral sclerosis. Neuron. 1998;20:589–602
- The RNA of the glutamate transporter EAAT2 is variably spliced in amyotrophic lateral sclerosis and normal individuals. J Neurol Sci. 1999;170:45–50
- . Glutamate transporter EAAT2 splice variants occur not only in ALS, but also in AD and controls. Neurology. 2000;55:1082–1088
- . Intron 7 retention and exon 9 skipping EAAT2 mRNA variants are not associated with amyotrophic lateral sclerosis. Ann Neurol. 2001;49:643–649
- . Spinal muscular atrophy. Lancet. 2008;371:2120–2133
- . Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization. J Neurosci. 2003;23:6627–6637
- . Multiprotein complexes of the survival of motor neuron protein SMN with gemins traffic to neuronal processes and growth cones of motor neurons. J Neurosci. 2006;26:8622–8632
- . Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role for Smn in RNA processing in motor axons?. Hum Mol Genet. 2002;11:93–105
- . Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding. J Cell Biol. 2009;162:919–931
- Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis. Ann Neurol. 2007;62:609–617
- . Expression of receptors for human angiogenin in vascular smooth muscle cells. Eur J Biochem. 1999;260:825–832
- . Angiogenin cleaves tRNA and promotes stress-induced translational repression. J Cell Biol. 2009;185:35–42
- ANG mutations segregate with familial and ‘sporadic’ amyotrophic lateral sclerosis. Nat Genet. 2006;34:411–413
- Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis. Neurogenetics. 2008;9:33–40
- Characterization of human angiogenin variants implicated in amyotrophic lateral sclerosis. Biochem. 2007;46:11810–11818
- Variations in the coding and regulatory sequences of the angiogenin (ANG) gene are not associated to ALS (amyotrophic lateral sclerosis) in the Italian population. J Neurol Sci. 2007;258:123–127
- A case of ALS-FTD in a large FALS pedigree with a K17I ANG mutation. Neurology. 2009;72:287–288
- . Mechanisms of action of angiogenin. Acta Biochim Biophys Sin. 2008;40:619–624
- Deletion of the hypoxia-response element in the vascular endothelial growth factor promoter causes motor neuron degeneration. Nat Genet. 2001;28:131–138
- . Vascular endothelial growth factor prolongs survival in a transgenic mouse model of ALS. Ann Neurol. 2004;56:564–567
- Vascular endothelial growth factor overexpression delays neurodegeneration and prolongs survival in amyotrophic lateral sclerosis mice. J Neurosci. 2007;27:304–307
- Control of motor neuron survival by angiogenin. J Neurosci. 2008;28:14056–14061
- VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death. Nat Genet. 2003;34:383–394
- DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet. 2004;74:1128–1135
- Senataxin, the yeast Sen1p othologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neruon disease. Neurobiol Dis. 2006;23:97–108
- A novel mutation in senataxin gene identified in a Chinese patient with sporadic amyotrophic lateral sclerosis. Amyotroph Lateral Scler. 2009;10:118–122
- Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Nat Genet. 2001;29:75–77
- . DExD/H Box RNA helicases: from generic motors to specific dissociation functions. Mol Cell. 2001;8:251–262
- . The role of mRNA and protein stability in gene expression. FASEB J. 1989;3:2360–2370
- Stability of A
+
U-rish element binding factor 1 (AUF-1)-binding messenger ribonucleic acid correlates with the subcellular relocalization of AUF1 in the rat uterus upon estrogen treatment. Mol Endocrinol. 2004;18:2255–2267 - Phosphorylation of p40AUF1 regulates binding to A–U-rich mRNA-destabilizing elements and protein-induced changes in ribonucloprotein structure. J Biol Chem. 2003;278:33039–33048
- . Convergent actions of IκB kinase β and protein kinase Cδ modulate mRNA stability through phosphorylation of 14-3-3β complexed with tristetraprolin. Mol Cell Biol. 2005;25:6454–6463
- Tristetraprolin (TTP)-14-3-3 complex formation protects TTP from dephosphorylation by protein phosphatase 2a and stabilizes tumor necrosis factor-α mRNA. J Biol Chem. 2007;282:3766–3777
- Szaro BG, Strong MJ. Post-transcriptional control of neurofilaments: new roles in development, regeneration and neurodegenerative disease. Trends Neurosci in press.
- . Selective loss of trans-acting instability determinants of neurofilament mRNA in amyotrophic lateral sclerosis spinal cord. J Biol Chem. 2003;278:26558–26563
- TDP43 is a human low molecular weight neurofilament (hNFL) mRNA-binding protein. Mol Cell Neurosci. 2007;35:320–327
- . 14-3-3 protein binds to the low molecular weight neurofilament (NFL) mRNA 3′ UTR. Mol Cell Neurosci. 2007;34:80–87
- . Mutant copper/zinc superoxide dismutase binds to and destabilizes human low molecular weight neurofilament mRNA. J Biol Chem. 2005;280:118–124
- . p190RhoGEF binds to a destabilizing element in the 3′ untranslated region of light neurofilament subunit mRNA and alters the stability of the transcript. J Biol Chem. 2001;276:32046
- . Mutation in neurofilament transgene implicates RNA processing in the pathogenesis of neurodegenerative disease. J Neurosci. 1999;19:1272–1283
- Untranslated element in neurofilament mRNA has neuropathic effect on motor neurons of transgenic mice. J Neurosci. 2002;22:7662–7670
- . 3′ Untranslated region in a light neurofilament (NF-L) mRNA triggers aggregation of NF-L and mutant superoxide dismutase 1 proteins in neuronal cells. J Neurosci. 2004;24:2716–2726
- . RNA-binding protein is involved in aggregation of light neurofilament protein and is implicated in the pathogenesis of motor neuron degeneration. Hum Mol Genet. 2005;14:3643–3659
- TDP-43-immunoreactive neuronal and glial inclusions in the neostriatum in amyotrophic lateral sclerosis with and without dementia. Acta Neuropathol. 2008;115:115–122
- Appearance of TDP-43 in Japanese frontotemporal lobar degeneration with ubiquitin-positive inclusions. Neurosci Lett. 2007;419:213–218
- Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations. Ann Neurol. 2007;61:427–434
- Pathological TDP-43 in parkinsonism-dementia complex and amyotrophic lateral sclerosis of Guam. Acta Neuropathol. 2008;115:133–145
- Gene expression analysis of frontotemporal lobar degeneration of the motor neuron disease type with ubiquitinated inclusions. Acta Neuropathol. 2007;114:81–94
- . Frontotemporal lobar degeneration: clinical and pathological relationships. Acta Neuropathol. 2007;114:31–38
- Ubiquitinated pathological lesions in frontotemporal lobar degeneration contain the TAR DNA-binding protein, TDP-43. Acta Neuropathol. 2007;113:521–533
- . Hippocampal sclerosis dementia: a reappraisal. Acta Neuropathol. 2007;114:335–345
- TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutations. J Neuropathol Exp Neurol. 2007;66:152–157
- TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions. Am J Pathol. 2007;171:227–240
- Co-morbidity of TDP-43 proteinopathy in Lewy body related diseases. Acta Neuropathol. 2007;114:221–229
- . TDP-43 immunoreactivity in anoxic, ischemic and neoplastic lesions of the central nervous system. Acta Neuropathol. 2008;115:305–311
- TDP-43 mutation in familial amyotrophic lateral sclerosis. Ann Neurol. 2008;63:538–542
- TDP-43 A315T mutation in familial motor neuron disease. Ann Neurol. 2008;63:535–538
- TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nat Genet. 2008;40:572–574
- A90V TDP-43 variant results in the aberrant localization of TDP-43 in vitro. FEBS Lett. 2008;582:2252–2256
- Two German kindreds with familial amytrophic lateral sclerosis due to TARDBP mutations. Arch Neurol. 2008;65:1185–1189
- Tardpb mutations in motoneuron disease with frontotemporal lobar degeneration. Ann Neurol. 2008;65:470–473
- TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histological analysis. Lancet Neurol. 2008;7:416
- Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis. PLoS Genetics. 2008;4:e1000193
- High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis. Hum Mutat. 2009;30:688–694
- TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations. Eur J Neurol. 2009;16:727–732
- . Cloning and characterization of a novel cellular protein, TDP-43, that binds to human immunodeficiency virus type 1 TAR DNA sequence motifs. J Virol. 1995;69:3584–3596
- . Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping. EMBO. 2001;20:1774–1784
- . Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9. J Biol Chem. 2001;276:36337–36343
- . Structural diversity and functional implications of the eukaryotic TDP gene family. Genomics. 2004;83:130–139
- . Higher order arrangement of the eukaryotic nuclear bodies. Proc Natl Acad Sci USA. 2002;99:13583–13588
- . Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease. Front Biosci. 2008;13:867–878
- . A novel CpG-free vertebrate insulator silences the testis-specific SP-10 gene in somatic tissues. J Biol Chem. 2007;282:36143–36154
- . TDP-43 depletion rescues aberrant CFTR exon 9 skipping. FEBS Lett. 2006;580:1339–1344
- . Nuclear factor TDP-43 binds to the polymorphic TG repeats in CFTR intron 8 and causes skipping of exon 9: a functional link with disease penetrance. Am J Hum Genet. 2004;74:1322–1325
- . Divergent patterns of cytosolic TDP-43 and neuronal progranulin expression following axotomy. Brain Res. 2009;1249:202–211
- . P bodies and the control of mRNA translation and degradation. Mol Cell. 2007;25:635–646
- . The poly(C)-binding proteins: a multiplicity of functions and a search for mechanisms. RNA. 2002;8:265–278
- . RNA on the move: the mRNA localization pathway. J Cell Biol. 1993;123:269–274
- . Neuronal RNA granules: a link between RNA localization and stimulation-dependent translation. Neuron. 2001;32:683–696
- . Zipcodes and postage stamps: mRNA localisation signals and their trans-acting binding proteins. Brief Funct Genomic Proteomic. 2004;3:240–256
- . The double lives of shuttling mRNA binding proteins. Cell. 2000;102:135–138
- . Human low molecular weight neurofilament (NFL) mRNA interacts with a predicted p190RhoGEF homologue (RGNEF). Amyotroph Lateral Scler. Jun 1 2009;1–7[Electronic publication ahead of print]
- Domain architectures and characterization of an RNA-binding protein, TLS. J Biol Chem. 2004;279:44834–44840
- KIF4 mediates anterograde translocation and positioning of ribosomal constituents to axons. J Biol Chem. 2009;284:9489–9497
- . Cytoplasmic dynein/dynactin function and dysfunction in motor neurons. Int J Devl Neuroscience. 2006;24:103–111
- Mutations in dynein link motor neuron degeneration to defects in retrograde transport. Science. 2003;300:808–812
- Hetereozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD. Ann Neurol. 2005;58:777–780
- Mutant dynactin in motor neuron disease. Nat Genet. 2003;33:455–456
- Reduced expression of kinesin-associated protein3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. Proc Natl Acad Sci USA. 2009;106:9004–9009
- . The identification and characterization of oxidized RNAs in Alzheimer's disease. J Neurosci. 2003;23:4913–4921
- . Oxidized messenger RNA induces translation errors. Proc Natl Acad Sci USA. 2007;104:66–71
- . Oxidative damage and neurodegeneration. Curr Med Chem. 2007;14:2968–2975
- Messenger RNA oxidation occurs early in disease pathogenesis and promotes motor neuron degeneration in ALS. PLoS ONE. 2008;3:e2849
- Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature. 1993;362:59–62
- A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet. 2001;29:166–173
- The gene encoding alsin, a protein with three guanine–nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet. 2001;29:160–165
- Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33–q35. Nat Genet. 1994;7:425–428
- . Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis). Brain. 1990;113:347–363
- A novel locus for familial amyotrophic lateral sclerosis on chromosome 18q. Am J Hum Genet. 2002;70:251–256
- Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15–q22 markers. Neurogenetics. 1998;2:55–60
- . A new familial amyotrophic lateral sclerosis locus on chromosome 16q12.1–16q12.2. Am J Hum Genet. 2003;73:383–389
- Two families with familal amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16q. Am J Hum Genet. 2003;73:396
- Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis. Am J Hum Genet. 2003;73:397–403
- A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am J Hum Genet. 2004;75:822–831
- . A novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13. J Med Genet. 2004;41:315–320
- Association of missense and 5″-splice-site mutations in tau with the inherited dementia FTDP-17. Nature. 1998;393:702–705
- Clinical characteristics of a family with chromosome 17-linked disinhibition–dementia–parkinsonism–amyotrophy complex. Neurology. 1994;44:1878–1884
- 17q-linked frontotemporal dementia–amyotrophic lateral sclerosis without tau mutations with tau and α-synuclein inclusions. Arch Neurol. 2004;61:398–406
- A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease. Neurology. 2005;64:1578–1585
- Mutant copper–zinc superoxide dismutase associated with amyotrophic lateral sclerosis binds to the adenine/uridine-rich stability elements in the vascular endothelial growth factor 3′-untranslated region. J Neurochem. 2009;108:1032–1044
- Mutant Cu/Zn superoxide dismutase associated with amyotrophic lateral sclerosis destabilizes vascular endothelial growth factor mRNA and downregulates its expression. J Neurosci. 2007;27:7929–7938
- Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia. Hum Mol Genet. 2008;17:3631–3642
PII: S0022-510X(09)00889-2
doi: 10.1016/j.jns.2009.09.029
© 2009 Elsevier B.V. All rights reserved.
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Journal of the Neurological Sciences
Volume 288, Issue 1
, Pages 1-12
, 15 January 2010
