Academic Journal
Mutational analysis of VCP gene in familial Amyotrophic Lateral Sclerosis
| العنوان: | Mutational analysis of VCP gene in familial Amyotrophic Lateral Sclerosis |
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| المؤلفون: | C. Tiloca, V. Pensato, A. Castucci, G. Sorarù, R. Del Bo, L. Corrado, C. Cereda, C. D'Ascenzo, L. Mazzini, B. Castellotti, C. Gellera, A. Ratti, G.P. Comi, N. Ticozzi, V. Silani |
| المساهمون: | C. Tiloca, A. Ratti, V. Pensato, A. Castucci, G. Sorarù, R. Del Bo, L. Corrado, C. Cereda, C. D'Ascenzo, G.P. Comi, L. Mazzini, B. Castellotti, N. Ticozzi, C. Gellera, V. Silani |
| بيانات النشر: | Elsevier |
| سنة النشر: | 2012 |
| المجموعة: | The University of Milan: Archivio Istituzionale della Ricerca (AIR) |
| مصطلحات موضوعية: | ALS (Amyotrophic lateral sclerosis), VCP (valosin-containing protein), Genetics, Settore MED/26 - Neurologia, Settore BIO/18 - Genetica |
| الوصف: | Mutations in valosin-containing protein (VCP) gene, already known to be associated with the multisystemic disorder, inclusion body myopathy with Paget's disease and frontotemporal dementia (IBMPFD), have been recently found also in familial cases of amyotrophic lateral sclerosis (ALS). To further define the frequency of VCP mutations in ALS Italian population, we screened a cohort of 166 familial ALS and 14 ALS-frontotemporal dementia (FTD) individuals. We identified a previously reported synonymous mutation (c.2093A>C; p.Q568Q), 2 intronic variants (c.1749-14C>T; c.2085-3C>T), and 1 nucleotide change (c.2814G>T) in the 3' untranslated region (UTR). Bioinformatical analyses predicted no changes in splicing process or microRNA binding sites. Our results do not confirm a main contribution of VCP gene to familial ALS in the Italian population. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| Relation: | info:eu-repo/semantics/altIdentifier/pmid/22137929; info:eu-repo/semantics/altIdentifier/wos/WOS:000180450900015; volume:33; issue:3; firstpage:630.e1; lastpage:630.e2; numberofpages:2; journal:NEUROBIOLOGY OF AGING; http://hdl.handle.net/2434/174322; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84855809916 |
| DOI: | 10.1016/j.neurobiolaging.2011.10.025 |
| الاتاحة: | http://hdl.handle.net/2434/174322 https://doi.org/10.1016/j.neurobiolaging.2011.10.025 |
| Rights: | info:eu-repo/semantics/closedAccess |
| رقم الانضمام: | edsbas.3DD28069 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1016/j.neurobiolaging.2011.10.025 |
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