FUS mutations in sporadic amyotrophic lateral sclerosis: clinical and genetic analysis. (Articolo in rivista)

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  • FUS mutations in sporadic amyotrophic lateral sclerosis: clinical and genetic analysis. (Articolo in rivista) (literal)
Anno
  • 2012-01-01T00:00:00+01:00 (literal)
Alternative label
  • Sproviero W, La Bella V, Mazzei R, Valentino P, Rodolico C, Simone IL, Logroscino G, Ungaro C, Magariello A, Patitucci A, Tedeschi G, Spataro R, Condino F, Bono F, Citrigno L, Monsurrò MR, Muglia M, Gambardella A, Quattrone A, Conforti FL. (2012)
    FUS mutations in sporadic amyotrophic lateral sclerosis: clinical and genetic analysis.
    in Neurobiology of aging
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Sproviero W, La Bella V, Mazzei R, Valentino P, Rodolico C, Simone IL, Logroscino G, Ungaro C, Magariello A, Patitucci A, Tedeschi G, Spataro R, Condino F, Bono F, Citrigno L, Monsurrò MR, Muglia M, Gambardella A, Quattrone A, Conforti FL. (literal)
Pagina inizio
  • 837.e1 (literal)
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  • 837.e5 (literal)
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  • 33 (literal)
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  • 5 (literal)
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  • 4 (literal)
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  • Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy ALS Clinical Research Center, Bio.Ne.C, University of Palermo, Italy Institute of Neurology, University Magna Graecia, Catanzaro, Italy Department of Neurosciences, Psychiatric and Anaesthesiological Sciences, University of Messina, Italy Department of Neurological and Psychiatric Sciences, University of Bari, Italy Second Division of Neurology, Second University of Naples, Naples, Italy (literal)
Titolo
  • FUS mutations in sporadic amyotrophic lateral sclerosis: clinical and genetic analysis. (literal)
Abstract
  • Fused in sarcoma (FUS) or translocation in liposarcoma (TLS), a DNA/RNA-binding protein, causes a dominant autosomal inherited form of amyotrophic lateral sclerosis (ALS), ALS 6. Its main role in neurodegeneration is highlighted by the presence of cytoplasmic accumulation of its mutant protein form in ALS patients. To further define the frequency and spectrum of FUS gene mutations, we have performed a molecular screening of a cohort of 327 Italian patients from Southern Italy with sporadic ALS (SALS). We identified 4 patients carrying 3 different missense mutations and several polymorphisms. Two different substitutions occurring in the same amino acidic position have been observed in 2 patients: R521G and R521C respectively; P525L mutation has been found in 2 additional cases. Most of the patients with FUS mutations showed early symptom onset and had short disease survival. We also detected 4 different polymorphic variants (3?-untranslated region [UTR] variant, c.*41G>A; c.523+3ins[GAGGTG]; c.335-15del[TTTT]; and rs13331793) in 9 patients from within our cohort. This study underlines the importance of population-based mutation screening of newly identified genes. (literal)
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