E-viri
Recenzirano
-
Díaz-Belloso, Rafael; Muñoz-Delgado, Laura; Martín-Bornez, Miguel; Ojeda, Elena; Periñán, María Teresa; García-Díaz, Sergio; Bonilla-Toribio, Marta; Buiza-Rueda, Dolores; Pineda-Sánchez, Rocío; Jesús, Silvia; Macías-García, Daniel; Adarmes-Gómez, Astrid; Carrillo, Fátima; Mir, Pablo; Gómez-Garre, Pilar
Parkinsonism & related disorders, 07/2024, Letnik: 124Journal Article
The ATP10B gene has been proposed to play an important role in the development of early-onset Parkinson's disease (PD). Nevertheless, various studies have presented controversial conclusions regarding the involvement of this gene in PD. Here, we screened 1162 patients with PD, employing a targeted resequencing approach to investigate the putative relevance of this gene in a large independent cohort of these patients from southern Spain. Variations were classified according to the American College of Medical Genetics and Genomics criteria. Association studies were performed using data of a representative healthy Spanish population from the Medical Genome Project. Frequent variants were excluded. A total of 68 variants (rare or very rare) were detected in our cohort. Among ATP10B variant carriers, 12.9 % were putative compound heterozygous carriers; of these, 25 % were patients with early-onset PD. No evidence of a relation between any rare variants of ATP10B and PD risk was observed. Therefore, our results do not support a role for ATP10B in the onset of PD, or in the risk of developing it. •ATP10B gene have been involved in the development of Parkinson's disease (PD).•We mined a targeted sequencing approach to screen a cohort of patients from Spain.•No evidence of a relation between any rare variants of ATP10B and PD was observed.•Variations in ATP10B do not play a major role in PD, at least in our population.
Avtor
![loading ... loading ...](themes/default/img/ajax-loading.gif)
Vnos na polico
Trajna povezava
- URL:
Faktor vpliva
Dostop do baze podatkov JCR je dovoljen samo uporabnikom iz Slovenije. Vaš trenutni IP-naslov ni na seznamu dovoljenih za dostop, zato je potrebna avtentikacija z ustreznim računom AAI.
Leto | Faktor vpliva | Izdaja | Kategorija | Razvrstitev | ||||
---|---|---|---|---|---|---|---|---|
JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
Baze podatkov, v katerih je revija indeksirana
Ime baze podatkov | Področje | Leto |
---|
Povezave do osebnih bibliografij avtorjev | Povezave do podatkov o raziskovalcih v sistemu SICRIS |
---|
Vir: Osebne bibliografije
in: SICRIS
To gradivo vam je dostopno v celotnem besedilu. Če kljub temu želite naročiti gradivo, kliknite gumb Nadaljuj.