Missense mutations in progranulin gene associated with frontotemporal lobar degeneration: study of pathogenetic features

GRN, the gene coding for the progranulin (PGRN) protein, was recognized as a gene linked to frontotemporal lobar degeneration (FTLD). The first mutations identified were null mutations giving rise to haploinsufficiency. Missense mutations were subsequently detected, but only a small subset has been...

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Veröffentlicht in:	Neurobiology of aging Jg. 38; S. 215.e1 - 215.e12
Hauptverfasser:	Karch, Celeste M., Ezerskiy, Lubov, Redaelli, Veronica, Giovagnoli, Anna Rita, Tiraboschi, Pietro, Pelliccioni, Giuseppe, Pelliccioni, Paolo, Kapetis, Dimos, D'Amato, Ilaria, Piccoli, Elena, Ferretti, Maria Giulia, Tagliavini, Fabrizio, Rossi, Giacomina
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	United States Elsevier Inc 01.02.2016
Schlagworte:	Adult Aged Aged, 80 and over Cellobiose - analogs & derivatives Cohort Studies Female Frontotemporal lobar degeneration Frontotemporal Lobar Degeneration - genetics Frontotemporal Lobar Degeneration - pathology Functional analysis Gene Dosage Genetic Association Studies GRN HEK293 Cells Humans Intercellular Signaling Peptides and Proteins - analysis Intercellular Signaling Peptides and Proteins - genetics Internal Medicine Middle Aged Mutation Mutation, Missense - genetics Neurology Pathogenetic Progranulin Progranulins Frontotemporal lobar degeneration GRN Functional analysis Progranulin Mutation Pathogenetic
ISSN:	0197-4580, 1558-1497, 1558-1497
Online-Zugang:	Volltext
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