PMP22 messenger RNA levels in skin biopsies: Testing the effectiveness of a Charcot-Marie-Tooth 1A biomarker (Articolo in rivista)

Type

• Articolo in rivista (Classe)
• Prodotto della ricerca (Classe)

Label

• PMP22 messenger RNA levels in skin biopsies: Testing the effectiveness of a Charcot-Marie-Tooth 1A biomarker (Articolo in rivista) (literal)

Anno

• 2014-01-01T00:00:00+01:00 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi

• 10.1093/brain/awu071 (literal)

Alternative label

• Nobbio, Lucilla Alessandra; Visigalli, Davide; Radice, Davide; Fiorina, Elisabetta; Solari, Alessandra; Lauria, Giuseppe; Reilly, Mary M.; Santoro, Lucio; Schenone, Angelo E.; Pareyson, Davide, CMT-TRIAAL Group. (2014)
  PMP22 messenger RNA levels in skin biopsies: Testing the effectiveness of a Charcot-Marie-Tooth 1A biomarker
  in Brain (Print)
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Nobbio, Lucilla Alessandra; Visigalli, Davide; Radice, Davide; Fiorina, Elisabetta; Solari, Alessandra; Lauria, Giuseppe; Reilly, Mary M.; Santoro, Lucio; Schenone, Angelo E.; Pareyson, Davide, CMT-TRIAAL Group. (literal)

Pagina inizio

• 1614 (literal)

Pagina fine

• 1620 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#url

• http://www.scopus.com/record/display.url?eid=2-s2.0-84901435143&origin=inward (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 137 (literal)

Rivista

• Brain (Rivista)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali

• 7 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo

• 6 (literal)

Note

• ISI Web of Science (WOS) (literal)
• Scopu (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• 1 Department of Neurosciences, Rehabilitation Ophthalmology, Genetics and Maternal-Infantile Sciences (DINOGMI), University of Genoa, Largo P. Daneo 3, 16132 Genoa, Italy lnobbio@neurologia.unige.it. 2 Department of Neurosciences, Rehabilitation Ophthalmology, Genetics and Maternal-Infantile Sciences (DINOGMI), University of Genoa, Largo P. Daneo 3, 16132 Genoa, Italy. 3 Department of Epidemiology and Biostatistics, European Institute of Oncology, Via G. Ripamonti 435, 20141 Milan, Italy. 4 Unit of Neuroepidemiology, IRCCS Foundation, C. Besta Neurological Institute, Via Celoria 11, 20133 Milan, Italy. 5 Headache and Pain Syndromes Unit, IRCCS Foundation, C. Besta Neurological Institute, Via Celoria 11, 20133 Milan, Italy. 6 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK. 7 Department of Neurosciences, Reproductive Sciences and Odontostomatology, University \"Federico II\", Corso Umberto I 40, 80138 Naples, Italy. 8 Clinic of Central and Peripheral Degenerative Neuropathies Unit, IRCCS Foundation, C. Besta Neurological Institute, Via Celoria 11, 20133 Milan, Italy. Participants in the CMT-TRIAAL Group: D. Pareyson, C. Marchesi, E. Salsano, L. Nanetti, C. Marelli, V. Scaioli, C. Ciano, M. Rimoldi, G. Lauria, E. Rizzetto, F. Camozzi (IRCCS Foundation, Carlo Besta Neurological Institute, Milan, Italy); A. Schenone, E. Narciso, M. Grandis, M. MontiBragadin, L. Nobbio (Department of Neurology, Ophthalmology, and Genetics, University of Genoa, Genoa, Italy); G. M. Fabrizi, T. Cavallaro, A. Casano, L. Bertolasi, I. Cabrini, K. Corra`, N. Rizzuto (Department of Neurological, Neuropsychological, Morphological, and Motor Sciences, University of Verona, Verona, Italy); L. Santoro, F. Manganelli, C. Pisciotta (Department of Neurosciences, Reproductive Sciences and Odontostomatology, University \"Federico II\", Naples Italy); M. Nolano (Department of Neurology, Salvatore Maugeri Foundation, IRCCS, Telese Terme, Italy); G. Vita, A. Mazzeo, M. Aguennouz, R. Di Leo, G. Majorana, N. Lanzano, F. Valenti (Department of Neurosciences, Psychiatry, and Anaesthesiology, University of Messina, Messina, Italy); A. Quattrone, P. Valentino, R. Nistico` , D. Pirritano, A. Lucisano, M. Canino (Department of Medical Sciences, Institute of Neurology, University Magna Graecia, Catanzaro, Italy, and Neuroimaging Research Unit, National Research Council, Catanzaro, Italy); L. Padua, C. Pazzaglia, G. Granata, M. Foschini (Department of Neuroscience, Institute of Neurology, Catholic University, Rome, Italy, and Don Gnocchi Foundation, Milan, Italy); F. Gemignani, F. Brindani, F. Vitetta, I. Allegri (Department of Neurosciences, University of Parma, Parma, Italy); F. Visioli, P. Bogani (Department of Pharmacological Sciences, University of Milan, Milan, Italy); F. Visioli (IMDEA Food, Madrid, Spain.) (literal)

Titolo

• PMP22 messenger RNA levels in skin biopsies: Testing the effectiveness of a Charcot-Marie-Tooth 1A biomarker (literal)

Abstract

• Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with increased gene dosage for PMP22. Therapeutic approaches are currently aiming at correcting PMP22 over-expression. It is unknown whether PMP22 can be used as a biological marker of disease progression and therapy efficacy. We performed quantitative real-time polymerase chain reaction on skin biopsies of 45 patients with CMT1A, obtained at study entry and after 24-months of treatment either with ascorbic acid or placebo. Data of a subgroup of patients were also compared with matched healthy subjects. Finally, we analysed PMP22 messenger RNA levels in sural nerve biopsies. We did not find significant differences in the levels of any known PMP22 transcripts in treated or untreated patients with CMT1A, thus confirming that ascorbic acid does not impact on the molecular features of CMT1A. Most importantly, we did not observe any correlation between PMP22 messenger RNA levels and the different clinical and electrophysiological outcome measures, underscoring the weakness of PMP22 to mirror the phenotypic variability of patients with CMT1A. We did not find increased PMP22 messenger RNA levels in skin and sural nerve biopsies of patients with CMT1A compared with relative controls. In conclusion, this study shows that ascorbic acid does not impact on PMP22 transcriptional regulation and PMP22 is not a suitable biomarker for CMT1A. © 2014 The Author. (literal)

Prodotto di

• Neuroimaging clinico dei disordini neurodegenerativi del movimento (ME.P02.028.001) (Modulo)
• Institute of molecular bioimaging and physiology (IBFM) (Istituto)

Autore CNR

• RITA NISTICO' (Unità di personale interno)

Insieme di parole chiave

• Keywords of "PMP22 messenger RNA levels in skin biopsies: Testing the effectiveness of a Charcot-Marie-Tooth 1A biomarker" (Insieme di parole chiave)

Incoming links:

Autore CNR di

• http://www.cnr.it/ontology/cnr/individuo/unitaDiPersonaleEsterno/ID25089
• RITA NISTICO' (Unità di personale interno)

Prodotto

• Institute of molecular bioimaging and physiology (IBFM) (Istituto)
• Neuroimaging clinico dei disordini neurodegenerativi del movimento (ME.P02.028.001) (Modulo)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Brain (Rivista)

Insieme di parole chiave di

• Keywords of "PMP22 messenger RNA levels in skin biopsies: Testing the effectiveness of a Charcot-Marie-Tooth 1A biomarker" (Insieme di parole chiave)