WFRF:(Belbin Olivia)
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 04258naa a2200661 4500 | |
| 001 | oai:DiVA.org:uu-209478 | |
| 003 | SwePub | |
| 008 | 131021s2013 | |||||||||||000 ||eng| | |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-2094782 URI |
| 024 | 7 | a https://doi.org/10.1371/journal.pone.00742032 DOI |
| 040 | a (SwePub)uu | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Rubio-Moscardo, Fanny4 aut |
| 245 | 1 0 | a Rare Variants in Calcium Homeostasis Modulator 1 (CALHM1) Found in Early Onset Alzheimer's Disease Patients Alter Calcium Homeostasis |
| 264 | c 2013-09-17 | |
| 264 | 1 | b Public Library of Science (PLoS),c 2013 |
| 338 | a electronic2 rdacarrier | |
| 520 | a Calcium signaling in the brain is fundamental to the learning and memory process and there is evidence to suggest that its dysfunction is involved in the pathological pathways underlying Alzheimer's disease (AD). Recently, the calcium hypothesis of AD has received support with the identification of the non-selective Ca2+-permeable channel CALHM1. A genetic polymorphism (p. P86L) in CALHM1 reduces plasma membrane Ca2+ permeability and is associated with an earlier age-at-onset of AD. To investigate the role of CALHM1 variants in early-onset AD (EOAD), we sequenced all CALHM1 coding regions in three independent series comprising 284 EOAD patients and 326 controls. Two missense mutations in patients (p.G330D and p.R154H) and one (p.A213T) in a control individual were identified. Calcium imaging analyses revealed that while the mutation found in a control (p.A213T) behaved as wild-type CALHM1 (CALHM1-WT), a complete abolishment of the Ca2+ influx was associated with the mutations found in EOAD patients (p.G330D and p.R154H). Notably, the previously reported p. P86L mutation was associated with an intermediate Ca2+ influx between the CALHM1-WT and the p.G330D and p. R154H mutations. Since neither expression of wild-type nor mutant CALHM1 affected amyloid beta-peptide (A beta) production or A beta-mediated cellular toxicity, we conclude that rare genetic variants in CALHM1 lead to Ca2+ dysregulation and may contribute to the risk of EOAD through a mechanism independent from the classical A beta cascade. | |
| 700 | 1 | a Seto-Salvia, Nuria4 aut |
| 700 | 1 | a Pera, Marta4 aut |
| 700 | 1 | a Bosch-Morato, Monica4 aut |
| 700 | 1 | a Plata, Cristina4 aut |
| 700 | 1 | a Belbin, Olivia4 aut |
| 700 | 1 | a Gene, Gemma4 aut |
| 700 | 1 | a Dols-Icardo, Oriol4 aut |
| 700 | 1 | a Ingelsson, Martinu Uppsala universitet,Geriatrik,Molekylär geriatrik/ Rudbecklaboratoriet4 aut0 (Swepub:uu)maing121 |
| 700 | 1 | a Helisalmi, Seppo4 aut |
| 700 | 1 | a Soininen, Hilkka4 aut |
| 700 | 1 | a Hiltunen, Mikko4 aut |
| 700 | 1 | a Giedraitis, Vilmantasu Uppsala universitet,Geriatrik,Molekylär geriatrik/ Rudbecklaboratoriet4 aut0 (Swepub:uu)vigie517 |
| 700 | 1 | a Lannfelt, Larsu Uppsala universitet,Geriatrik,Molekylär geriatrik/ Rudbecklaboratoriet4 aut0 (Swepub:uu)lalan021 |
| 700 | 1 | a Frank, Ana4 aut |
| 700 | 1 | a Jesus Bullido, Ma4 aut |
| 700 | 1 | a Combarros, Onofre4 aut |
| 700 | 1 | a Sanchez-Juan, Pascual4 aut |
| 700 | 1 | a Boada, Merce4 aut |
| 700 | 1 | a Tarraga, Lluis4 aut |
| 700 | 1 | a Pastor, Pau4 aut |
| 700 | 1 | a Perez-Tur, Jordi4 aut |
| 700 | 1 | a Baquero, Miquel4 aut |
| 700 | 1 | a Molinuevo, Jose L.4 aut |
| 700 | 1 | a Sanchez-Valle, Raquel4 aut |
| 700 | 1 | a Fuentes-Prior, Pablo4 aut |
| 700 | 1 | a Fortea, Juan4 aut |
| 700 | 1 | a Blesa, Rafael4 aut |
| 700 | 1 | a Munoz, Francisco J.4 aut |
| 700 | 1 | a Lleo, Alberto4 aut |
| 700 | 1 | a Valverde, Miguel A.4 aut |
| 700 | 1 | a Clarimon, Jordi4 aut |
| 710 | 2 | a Uppsala universitetb Geriatrik4 org |
| 773 | 0 | t PLOS ONEd : Public Library of Science (PLoS)g 8:9, s. e74203-q 8:9<e74203-x 1932-6203 |
| 856 | 4 | u https://uu.diva-portal.org/smash/get/diva2:659077/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print |
| 856 | 4 | u https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0074203&type=printable |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-209478 |
| 856 | 4 8 | u https://doi.org/10.1371/journal.pone.0074203 |
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