Associated Papers
Rare-variant burden across lysosomal genes implicates sialylation and ganglioside metabolism in Parkinson's disease.
Senkevich K et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.
Khani M et al.
Nature Communications, 2025
Excessive expression of progranulin leads to neurotoxicity rather than neuroprotection.
Kusakari S et al.
Neurobiology of Disease, 2025
Biobank-scale characterization of Alzheimer's disease and related dementias identifies potential disease-causing variants, risk factors, and genetic modifiers across diverse ancestries.
Khani M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Rare exonic variant affects GRN splicing and contributes to frontotemporal lobar degeneration.
Wauters E et al.
Neurobiology of Aging, 2023
C9orf72 expansions are the most common cause of genetic frontotemporal dementia in a Southeast Asian cohort.
Tan YJ et al.
Annals of Clinical and Translational Neurology, 2023
Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases.
Perrone F et al.
Genome Medicine, 2021
Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series.
Koriath C et al.
Molecular Psychiatry, 2020
Genetic screening in early-onset dementia patients with unclear phenotype: relevance for clinical diagnosis.
Perrone F et al.
Neurobiology of Aging, 2018
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
Missense mutation in GRN gene affecting RNA splicing and plasma progranulin level in a family affected by frontotemporal lobar degeneration.
Luzzi S et al.
Neurobiology of Aging, 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
Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease.
Sassi C et al.
Neurobiology of Aging, 2014
Changes in matrix metalloprotease activity and progranulin levels may contribute to the pathophysiological function of mutant leucine-rich repeat kinase 2.
Caesar M et al.
Glia, 2014
Novel progranulin mutations with reduced serum-progranulin levels in frontotemporal lobar degeneration.
Chiang HH et al.
European Journal of Human Genetics : Ejhg, 2013
Novel progranulin variants do not disrupt progranulin secretion and cleavage.
Karch CM et al.
Neurobiology of Aging, 2013
Promoter DNA methylation regulates progranulin expression and is altered in FTLD.
Banzhaf-Strathmann J et al.
Acta Neuropathologica Communications, 2013
Mechanisms of granulin deficiency: lessons from cellular and animal models.
Kleinberger G et al.
Molecular Neurobiology, 2013
Epidemiology and genetics of frontotemporal dementia: a door-to-door survey in southern Italy.
Bernardi L et al.
Neurobiology of Aging, 2012
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
Reply: Predicted pathogenic missense mutation of PGRN found in a normal control.
Sleegers K et al.
Annals of Neurology, 2010
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
Serum biomarker for progranulin-associated frontotemporal lobar degeneration.
Sleegers K et al.
Annals of Neurology, 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
The Genetics of Monogenic Frontotemporal Dementia.
Takada LT
Dementia & Neuropsychologia, 0