http://purl.uniprot.org/citations/24042580 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/24042580 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/24042580 | http://www.w3.org/2000/01/rdf-schema#comment | "ImportanceMutations in the SQSTM1 gene, coding for p62, are a cause of Paget disease of bone and amyotrophic lateral sclerosis (ALS). Recently, SQSTM1 mutations were confirmed in ALS, and mutations were also identified in 3 patients with frontotemporal dementia (FTD), suggesting a role for SQSTM1 in FTD.ObjectiveTo evaluate the exact contribution of SQSTM1 to FTD and FTD with ALS (FTD-ALS) in an independent cohort of patients.DesignA SQSTM1 mutation was first identified in a multiplex family with FTD by use of whole-exome sequencing. To evaluate the frequency of SQSTM1 mutations, we sequenced this gene in a cohort of patients with FTD or FTD-ALS, with no mutations in known FTD and ALS genes.SettingPrimary care or referral center.ParticipantsAn overall cohort of 188 French patients, including 132 probands with FTD and 56 probands with FTD-ALS.Main outcomes and measuresFrequency of SQSTM1 mutations in patients with FTD or FTD-ALS; description of associated phenotypes.ResultsWe identified 4 heterozygous missense mutations in 4 unrelated families with FTD; only 1 family had clinical symptoms of Paget disease of bone, and only 1 family had clinical symptoms of FTD-ALS, possibly owing to the low penetrance of some of the clinical manifestations.Conclusions and relevanceAlthough the frequency of the mutations is low in our series (4 of 188 patients [2%]), our results, similar to those already reported, support a direct pathogenic role of p62 in different types of FTD."xsd:string |
http://purl.uniprot.org/citations/24042580 | http://purl.org/dc/terms/identifier | "doi:10.1001/jamaneurol.2013.3849"xsd:string |
http://purl.uniprot.org/citations/24042580 | http://purl.org/dc/terms/identifier | "doi:10.1001/jamaneurol.2013.3849"xsd:string |
http://purl.uniprot.org/citations/24042580 | http://purl.uniprot.org/core/author | "Brice A."xsd:string |
http://purl.uniprot.org/citations/24042580 | http://purl.uniprot.org/core/author | "Brice A."xsd:string |
http://purl.uniprot.org/citations/24042580 | http://purl.uniprot.org/core/author | "Bras J."xsd:string |
http://purl.uniprot.org/citations/24042580 | http://purl.uniprot.org/core/author | "Bras J."xsd:string |
http://purl.uniprot.org/citations/24042580 | http://purl.uniprot.org/core/author | "Campion D."xsd:string |
http://purl.uniprot.org/citations/24042580 | http://purl.uniprot.org/core/author | "Campion D."xsd:string |
http://purl.uniprot.org/citations/24042580 | http://purl.uniprot.org/core/author | "Guerreiro R."xsd:string |
http://purl.uniprot.org/citations/24042580 | http://purl.uniprot.org/core/author | "Guerreiro R."xsd:string |
http://purl.uniprot.org/citations/24042580 | http://purl.uniprot.org/core/author | "Hardy J."xsd:string |
http://purl.uniprot.org/citations/24042580 | http://purl.uniprot.org/core/author | "Hardy J."xsd:string |
http://purl.uniprot.org/citations/24042580 | http://purl.uniprot.org/core/author | "Nicolas G."xsd:string |
http://purl.uniprot.org/citations/24042580 | http://purl.uniprot.org/core/author | "Nicolas G."xsd:string |
http://purl.uniprot.org/citations/24042580 | http://purl.uniprot.org/core/author | "Le Ber I."xsd:string |
http://purl.uniprot.org/citations/24042580 | http://purl.uniprot.org/core/author | "Le Ber I."xsd:string |
http://purl.uniprot.org/citations/24042580 | http://purl.uniprot.org/core/author | "Latouche M."xsd:string |
http://purl.uniprot.org/citations/24042580 | http://purl.uniprot.org/core/author | "Latouche M."xsd:string |
http://purl.uniprot.org/citations/24042580 | http://purl.uniprot.org/core/author | "Lenglet T."xsd:string |
http://purl.uniprot.org/citations/24042580 | http://purl.uniprot.org/core/author | "Lenglet T."xsd:string |
http://purl.uniprot.org/citations/24042580 | http://purl.uniprot.org/core/author | "Hannequin D."xsd:string |
http://purl.uniprot.org/citations/24042580 | http://purl.uniprot.org/core/author | "Hannequin D."xsd:string |