{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Del Bo R"],"funding":["Intramural NIH HHS","NIA NIH HHS"],"pagination":["1157-8"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC3511779"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["32(6)"],"pubmed_abstract":["To analyze the contribution of progranulin (PGRN) to the etiopathogenesis of amyotrophic lateral sclerosis (ALS), we performed a PGRN gene screening in 146 Italian patients (12 familial cases) and evaluated the association of two common variants with risk of developing ALS in 239 sporadic cases (SALS). Progranulin mRNA and protein levels were measured in peripheral blood mononuclear cells and serum of a subset of these patients and controls. PGRN sequence analysis revealed a heterozygous change (p.S120Y), previously observed in an independent sporadic ALS-FTD patient. Haplotype analysis showed a conserved PGRN region among these two subjects consistent with possible common ancestor allele. Two non-coding polymorphisms were not associated to increased risk to develop ALS; mRNA and serum lev"],"journal":["Neurobiology of aging"],"pubmed_title":["No major progranulin genetic variability contribution to disease etiopathogenesis in an ALS Italian cohort."],"pmcid":["PMC3511779"],"funding_grant_id":["ZIA AG000933","Z01 AG000949","K24 AG000949"],"pubmed_authors":["Galimberti D","Siciliano G","Scarpini E","Ranieri M","Corti S","Del Bo R","Briani C","Santoro D","Murri L","Traynor BJ","Schymick JC","Bresolin N","Comi GP","Ghezzi S","Fenoglio C","Mancuso M","Ghione I"],"additional_accession":[]},"is_claimable":false,"name":"No major progranulin genetic variability contribution to disease etiopathogenesis in an ALS Italian cohort.","description":"To analyze the contribution of progranulin (PGRN) to the etiopathogenesis of amyotrophic lateral sclerosis (ALS), we performed a PGRN gene screening in 146 Italian patients (12 familial cases) and evaluated the association of two common variants with risk of developing ALS in 239 sporadic cases (SALS). Progranulin mRNA and protein levels were measured in peripheral blood mononuclear cells and serum of a subset of these patients and controls. PGRN sequence analysis revealed a heterozygous change (p.S120Y), previously observed in an independent sporadic ALS-FTD patient. Haplotype analysis showed a conserved PGRN region among these two subjects consistent with possible common ancestor allele. Two non-coding polymorphisms were not associated to increased risk to develop ALS; mRNA and serum lev","dates":{"release":"2011-01-01T00:00:00Z","publication":"2011 Jun","modification":"2026-05-02T20:54:07.958Z","creation":"2019-03-27T01:01:18Z"},"accession":"S-EPMC3511779","cross_references":{"pubmed":["19632744"],"doi":["10.1016/j.neurobiolaging.2009.06.006"]}}