Archivio istituzionale della ricerca dell'Università degli Studi di Palermo
IRIS è il sistema di gestione integrata dei dati della ricerca (persone, pubblicazioni, progetti, attività) adottato dall’Università di Palermo, e ha lo scopo di raccogliere, conservare, documentare, e diffondere ad accesso aperto le informazioni relative alla produzione scientifica degli autori afferenti all’Ateneo.
EnglishDCTN1 encodes the largest subunit of dynactin complex essential in the retrograde axonal transport and cytoplasmic transport of vesicles; mutations in DCTN1 have been reported predominantly in individuals with Perry syndrome and, recently, in patients with progressive supranuclear palsy. Our genetic screening of DCTN1 in 79 patients with progressive supranuclear palsy, 100 patients with multiple system atrophy, and 28 patients with dementia with Lewy bodies from Italy revealed only synonymous and intronic variants, suggesting that DCTN1 mutations do not have a key role in the development of atypical parkinsonism in the Italian population.
Procopio R., Gagliardi M., D'Amelio M., Brighina L., Nicoletti G., Morelli M., et al. (2020). DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB. NEUROBIOLOGY OF AGING [10.1016/j.neurobiolaging.2020.04.006].
| Data di pubblicazione: | 2020 | |
| Titolo: | DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB | |
| Autori: | ||
| Citazione: | Procopio R., Gagliardi M., D'Amelio M., Brighina L., Nicoletti G., Morelli M., et al. (2020). DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB. NEUROBIOLOGY OF AGING [10.1016/j.neurobiolaging.2020.04.006]. | |
| Rivista: | ||
| Digital Object Identifier (DOI): | http://dx.doi.org/10.1016/j.neurobiolaging.2020.04.006 | |
| Abstract: | DCTN1 encodes the largest subunit of dynactin complex essential in the retrograde axonal transport and cytoplasmic transport of vesicles; mutations in DCTN1 have been reported predominantly in individuals with Perry syndrome and, recently, in patients with progressive supranuclear palsy. Our genetic screening of DCTN1 in 79 patients with progressive supranuclear palsy, 100 patients with multiple system atrophy, and 28 patients with dementia with Lewy bodies from Italy revealed only synonymous and intronic variants, suggesting that DCTN1 mutations do not have a key role in the development of atypical parkinsonism in the Italian population. | |
| Appare nelle tipologie: | 1.01 Articolo in rivista |
File in questo prodotto:
| File | Descrizione | Tipologia | Licenza | |
|---|---|---|---|---|
| 2020_DCTN1mutation analysis in Italian patients w.pdf | Versione Editoriale | Administrator Richiedi una copia |
Copyright © 2022