Molecular basis of amyotrophic lateral sclerosis

Progress in Neuro-Psychopharmacology and Biological Psychiatry

Volumn 35, Issue 2, 2011, Pages 370-372

  Liscic, Rajka M ^a   Breljak, Davorka ^a  

^a INSTITUTE FOR MEDICAL RESEARCH AND OCCUPATIONAL HEALTH   (Croatia)

Author keywords

ALS; Dementia; FUS TLS; SOD 1; TARDBP; TDP 43

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE; FUSED IN SARCOMA PROTEIN; MEMBRANE PROTEIN; RNA; TAR DNA BINDING PROTEIN; TRANSLATION IN LIPOSARCOMA PROTEIN; UNCLASSIFIED DRUG;

AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; COGNITIVE DEFECT; COPPER ZINC SUPEROXIDE DISMUTASE GENE; FRONTOTEMPORAL DEMENTIA; FUSED IN SARCOMA GENE; GENE; GENE EXPRESSION REGULATION; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; LINKAGE ANALYSIS; MOLECULAR GENETICS; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; NEUROPATHOLOGY; NONHUMAN; PHENOTYPE; PROTEIN ASSEMBLY; PROTEIN FOLDING; PROTEIN FUNCTION; RNA PROCESSING; RNA SPLICING; RNA TRANSPORT; TAR DNA BINDING PROTEIN 43 GENE; TRANSLATION IN LIPOSARCOMA GENE;

AMYOTROPHIC LATERAL SCLEROSIS; COGNITION DISORDERS; DNA-BINDING PROTEINS; FRONTOTEMPORAL LOBAR DEGENERATION; HUMANS; NEURODEGENERATIVE DISEASES; RNA-BINDING PROTEIN FUS;

EID: 79952899050     PISSN: 02785846     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pnpbp.2010.07.017     Document Type: Article

References (32)

1. Abrahams S., Leigh P.N., Harvey A., Vythelingum G.N., Grise D., Goldstein L.H. Verbal fluency and executive dysfunction in amyotrophic lateral sclerosis (ALS). Neuropsychologia 2000, 38:734-747.
2. Andersen P.M. Amyotrophic lateral sclerosis associated with mutations in the CuZn superoxide dismutase gene. Curr Neurol Neurosci Rep 2006, 6:37-46.
3. Brooks B.R. El Escorial World Federation of neurology criteria for the diagnosis of amyotrophic lateral sclerosis. J Neural Sci 1994, 124(Suppl):96-107.
4. Brooks B.R., Miller R.G., Swash M., Munsat T. Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 2000, 1:291-299.
5. Cairns N.J., Ghoshal N. FUS. A new actor on the frontotemporal lobar degeneration stage. Neurology 2010, 74:354-356.
6. Cairns N.J., Bigio E.H., Mackenzie I.R., Neumann M., Lee V.M.Y., Hatanpaa K., et al. Neuropathologic diagnostic and nozologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration. Acta Neuropathol 2007, 114:5-22.
7. Coraddo L., Del Bo R., Castellotti B., Ratti A., Cereda C., Penco S., et al. Mutations of FUS gene in sporadic amyotrophic lateral sclerosis. J Med Genet 2010, 47:190-194.
8. Deng H.X., Zhai H., Bigio E.H., Yan J., Fecto F., Ajroud K., et al. FUS-immunoreactive inclusions are a common feature in sporadic and non-SOD1 familial amyotrophic lateral sclerosis. Ann Neurol 2010, 67:739-748.
9. Geser F., Brandmeir N.J., Kwong L.K., Martinez-Lage M., Elman L., McCluskey L., et al. Evidence of multisystem disorder in whole brain map of pathological TDP-43 in amyotrophic lateral sclerosis. Arch Neurol 2008, 65:636-641.
10. Gitcho M.A., Baloh R.H., Chakraverty S., Mayo K., Norton J.B., Levitch D., et al. TDP-43 A315T mutation in familial motor neuron disease. Ann Neurol 2008, 63:535-538.
11. Hodges J.R., Davies R., Xuereb J., Kril J., Halliday G. Survival in frontotemporal dementia. Neurology 2003, 61:349-354.
12. Kwiatkowski T.J., Bosco da, Leclerc A.D., Tamrazian E., van den Berg C.R., Russ C., et al. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 2009, 323:1205-1208.
13. Lagier-Tourenne C., Cleveland D.W. Rethinking ALS: the FUS about TDP-43. Cell 2009, 136:1001-1004.
14. Lai SL, Abramzon Y, Schymick JC, Stephan DA, Duncley T, Dillman A, et al. FUS mutations in sporadic amyotrophic lateral sclerosis. Neurobiol Aging (published online ahead of print February 4, 2010).
15. Lansbury P.T., Lashuel H.A. A century-old debate on protein aggregation and neurodegeneration enters the clinic. Nature 2006, 443:774-779.
16. Liscic R.M., Stukovnik V., Mück-Seler D., Babic A., Nedic G., Mustapic M., et al. Cognitive changes and genetic markers in amyotrophic lateral sclerosis: preliminary results of a prospective study. Dement Geriatr Cogn Disord 2008, 26(Suppl. 1):64-65.
17. Liscic R.M., Tenenholz Grinberg L., Zidar J., Gitcho M.A., Cairns N.J. ALS and FTLD. Two faces of TDP-43 proteinopathy. Eur J Neurol 2008, 15:772-780.
18. Lomen-Hoerth C., Anderson T., Miller B. The overlap of amyotrophic lateral sclerosis and frontotemporal dementia. Neurology 2002, 59:1077-1079.
19. Lowe J. New pathological findings in amyotrophic lateral sclerosis. J Neurol Sci 1994, 124(Suppl):38-51.
20. Mackenzie I.R., Rademakers R. The role of transactive response DNA-binding protein-43 in amyotrophic lateral sclerosis and frontotemporal dementia. Curr Opin Neurol 2008, 21:693-700.
21. Mackenzie I.R., Bigio E.H., Ince P.G., Geser F., Neumann M., Cairns N.J., et al. Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations. Ann Neurol 2007, 61:427-434.
22. Murphy J.M., Henry R.G., Langmore S., Kramer J.H., Miller B.L., Lomen-Hoerth C. Continuum of frontal lobe impairment in amyotrophic lateral sclerosis. Arch Neurol 2007, 64:530-534.
23. Neumann M., Sampathu D.M., Kwong L.K., Truax A.C., Micsenyi M.C., Chou T.T., et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 2006, 314:130-133.
24. Neumann M., Rademakers R., Roeber S., Baker M., Kretzschmar H.A., Mackenzie I.R.A. A new subtype of frontotemporal lobar degeneration with FUS pathology. Brain 2009, 132:2922-2931.
25. Pasinelli P., Brown R.H. Molecular biology of amyotrophic lateral sclerosis: insights from genetics. Nat Rev Neurosci 2006, 7:710-723.
26. Rosen D.R., Siddique T., Paterson D., Figlewicz D.A., Sapp P., Hentati A., et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 1993, 362:59-62.
27. Sreedharan J., Blair I.P., Tripathi V.B., Hu X., Vance C., Rogelj B., et al. TDP-43 mutation in familial and sporadic amyotrophic lateral sclerosis. Science 2008, 319:1668-1672.
28. Strong M.J., Grace G.M., Freedman M., Loman-Hoerth C., Woolley S., Goldstein L.H., et al. Consensus criteria for the diagnosis of frontotemporal cognitive and behavioral syndromes in amyotrophic lateral sclerosis. Amyotroph Lateral Scler 2009, 10:131-146.
29. Van Langenhove T., van der Zee J., Sleegers K., Engelborghs S., Vandenberghe R., Gijselinck I., et al. Genetic contribution of FUS to frontotemporal lobar degeneration. Neurology 2010, 74:366-371.
30. Vance C., Rogelj B., Hortobagyi T., De Vos K.J., Nishimura A.L., Sreedharan J., et al. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 2009, 323:1208-1211.
31. Wegorzewska I., Bell S., Cairns N.J., Miller T.M., Baloh R.H. TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration. PNAS 2009, 106(44):18809-18814.
32. Wils H., Kleinberger G., Janssens J., Pereson S., Joris G., Cuijt I., et al. TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration. PNAS 2010, 107(8):3858-3863.