Associated Papers
Frontotemporal dementia as a consequence of GRN mutations: From disease cause to models to therapies.
Salzano S et al.
Pharmacological Research, 2025
PgxSAVy: A tool for comprehensive evaluation of variant peptide quality in proteogenomics - catching the (un)usual suspects.
Raj A et al.
Computational and Structural Biotechnology Journal, 2024
Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases.
Perrone F et al.
Genome Medicine, 2021
Genetic and functional characters of GRN p.T487I mutation in Taiwanese patients with atypical parkinsonian disorders.
Chang KH et al.
Parkinsonism & Related Disorders, 2018
Precision medicine of frontotemporal dementia: from genotype to phenotype.
Che XQ et al.
Frontiers in Bioscience (landmark Edition), 2018
Progranulin: a new avenue towards the understanding and treatment of neurodegenerative disease.
Chitramuthu BP et al.
Brain : a Journal of Neurology, 2017
Reduced secretion and altered proteolytic processing caused by missense mutations in progranulin.
Kleinberger G et al.
Neurobiology of Aging, 2016
Missense mutations in progranulin gene associated with frontotemporal lobar degeneration: study of pathogenetic features.
Karch CM et al.
Neurobiology of Aging, 2016
Novel progranulin variants do not disrupt progranulin secretion and cleavage.
Karch CM et al.
Neurobiology of Aging, 2013
Mechanisms of granulin deficiency: lessons from cellular and animal models.
Kleinberger G et al.
Molecular Neurobiology, 2013
Losing protein in the brain: the case of progranulin.
Ghidoni R et al.
Brain Research, 2012
Progranulin regulates neuronal outgrowth independent of sortilin.
Gass J et al.
Molecular Neurodegeneration, 2012
Progranulin: an emerging target for FTLD therapies.
Gass J et al.
Brain Research, 2012
Progranulin axis and recent developments in frontotemporal lobar degeneration.
Nicholson AM et al.
Alzheimer's Research & Therapy, 2012
Human genetics as a tool to identify progranulin regulators.
Nicholson AM et al.
Journal of Molecular Neuroscience : Mn, 2011
Frontotemporal dementia: from Mendelian genetics towards genome wide association studies.
Ferrari R et al.
Journal of Molecular Neuroscience : Mn, 2011
Pathogenic cysteine mutations affect progranulin function and production of mature granulins.
Wang J et al.
Journal of Neurochemistry, 2010
A thorough assessment of benign genetic variability in GRN and MAPT.
Guerreiro RJ et al.
Human Mutation, 2010
Recent insights into the molecular genetics of dementia.
Rademakers R et al.
Trends in Neurosciences, 2009
Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update.
Gijselinck I et al.
Human Mutation, 2008
Loss of progranulin function in frontotemporal lobar degeneration.
Cruts M et al.
Trends in Genetics : Tig, 2008
The two faces of protein misfolding: gain- and loss-of-function in neurodegenerative diseases.
Winklhofer KF et al.
The Embo Journal, 2008
Missense mutations in the progranulin gene linked to frontotemporal lobar degeneration with ubiquitin-immunoreactive inclusions reduce progranulin production and secretion.
Shankaran SS et al.
The Journal of Biological Chemistry, 2008
The molecular genetics and neuropathology of frontotemporal lobar degeneration: recent developments.
Mackenzie IR et al.
Neurogenetics, 2007
Progranulin null mutations in both sporadic and familial frontotemporal dementia.
Le Ber I et al.
Human Mutation, 2007
Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia.
van der Zee J et al.
Human Mutation, 2007