Associated Papers
Novel and rare variants in amyotrophic lateral sclerosis genes identified in Malaysian patients.
Zulhairy-Liong NA et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2025
Generation of Induced Pluripotent Stem Cells and Neuroepithelial Stem Cells from a Family with the Pathogenic Variant p.Q337X in Progranulin.
Gaweda-Walerych K et al.
International Journal of Molecular Sciences, 2025
Progranulin deficiency in the brain: the interplay between neuronal and non-neuronal cells.
Gaweda-Walerych K et al.
Translational Neurodegeneration, 2025
Two novel variants in GRN: the relevance of CNV analysis and genetic screening in FTLD patients with a negative family history.
De Houwer JFH et al.
Journal of Neurology, 2024
Effects of Pathogenic Mutants of the Neuroprotective RNase 5-Angiogenin in Amyotrophic Lateral Sclerosis (ALS).
Gotte G
Genes, 2024
Pathogenic signal peptide variants in the human genome.
Gutierrez Guarnizo SA et al.
Nar Genomics and Bioinformatics, 2023
Multi-modal proteomic characterization of lysosomal function and proteostasis in progranulin-deficient neurons.
Hasan S et al.
Molecular Neurodegeneration, 2023
Contributions of rare and common variation to early-onset and atypical dementia risk.
Wright CA et al.
Cold Spring Harbor Molecular Case Studies, 2023
Genotype-phenotype correlation in the spectrum of frontotemporal dementia-parkinsonian syndromes and advanced diagnostic approaches.
Zecca C et al.
Critical Reviews in Clinical Laboratory Sciences, 2023
Multi-modal Proteomic Characterization of Lysosomal Function and Proteostasis in Progranulin-Deficient Neurons.
Hasan S et al.
Biorxiv : the Preprint Server for Biology, 2023
Contributions of rare and common variation to early-onset and atypical dementia risk.
Wright CA et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Preclinical Interventions in Mouse Models of Frontotemporal Dementia Due to Progranulin Mutations.
Kashyap SN et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2023
Progranulin Gene Mutations in Chinese Patients with Frontotemporal Dementia: A Case Report and Literature Review.
Chu M et al.
Journal of Alzheimer's Disease : Jad, 2023
GRN Mutations Are Associated with Lewy Body Dementia.
Reho P et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
Neuropathology and emerging biomarkers in corticobasal syndrome.
Koga S et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2022
Loss of Lysosomal Proteins Progranulin and Prosaposin Associated with Increased Neurofibrillary Tangle Development in Alzheimer Disease.
Mendsaikhan A et al.
Journal of Neuropathology and Experimental Neurology, 2021
Right temporal variant frontotemporal dementia is pathologically heterogeneous: a case-series and a systematic review.
Ulugut H et al.
Acta Neuropathologica Communications, 2021
Lysosome dysfunction as a cause of neurodegenerative diseases: Lessons from frontotemporal dementia and amyotrophic lateral sclerosis.
Root J et al.
Neurobiology of Disease, 2021
Clinical and Neuroimaging Aspects of Familial Frontotemporal Lobar Degeneration Associated with MAPT and GRN Mutations.
Boeve BF et al.
Advances in Experimental Medicine and Biology, 2021
Lysosomal Dysfunction and Other Pathomechanisms in FTLD: Evidence from Progranulin Genetics and Biology.
Zhou X et al.
Advances in Experimental Medicine and Biology, 2021
Parkin Levels Decrease in Fibroblasts With Progranulin (PGRN) Pathogenic Variants and in a Cellular Model of PGRN Deficiency.
Gaweda-Walerych K et al.
Frontiers in Molecular Neuroscience, 2021
Modelling frontotemporal dementia using patient-derived induced pluripotent stem cells.
Lines G et al.
Molecular and Cellular Neurosciences, 2020
Rates of Brain Atrophy Across Disease Stages in Familial Frontotemporal Dementia Associated With MAPT, GRN, and C9orf72 Pathogenic Variants.
Staffaroni AM et al.
Jama Network Open, 2020
Translational Control of Secretory Proteins in Health and Disease.
Karamyshev AL et al.
International Journal of Molecular Sciences, 2020
Progranulin mutations result in impaired processing of prosaposin and reduced glucocerebrosidase activity.
Valdez C et al.
Human Molecular Genetics, 2020
Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study.
Moore KM et al.
The Lancet. Neurology, 2020
Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases.
Ramos EM et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2020
Modeling neuronopathic storage diseases with patient-derived culture systems.
Zunke F et al.
Neurobiology of Disease, 2019
Pathogenic Signal Sequence Mutations in Progranulin Disrupt SRP Interactions Required for mRNA Stability.
Pinarbasi ES et al.
Cell Reports, 2018
Precision medicine of frontotemporal dementia: from genotype to phenotype.
Che XQ et al.
Frontiers in Bioscience (landmark Edition), 2018
Progranulin-mediated deficiency of cathepsin D results in FTD and NCL-like phenotypes in neurons derived from FTD patients.
Valdez C et al.
Human Molecular Genetics, 2017
Progranulin: a new avenue towards the understanding and treatment of neurodegenerative disease.
Chitramuthu BP et al.
Brain : a Journal of Neurology, 2017
A novel frameshift GRN mutation results in frontotemporal lobar degeneration with a distinct clinical phenotype in two siblings: case report and literature review.
Hosaka T et al.
Bmc Neurology, 2017
ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.
Bennett CA et al.
Neurology. Genetics, 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
A Novel Splice-Acceptor Site Mutation in GRN (c.709-2 A>T) Causes Frontotemporal Dementia Spectrum in a Large Family from Southern Italy.
Sassi C et al.
Journal of Alzheimer's Disease : Jad, 2016
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
Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease.
Pottier C et al.
Acta Neuropathologica, 2015
Progranulin reduction is associated with increased tau phosphorylation in P301L tau transgenic mice.
Hosokawa M et al.
Journal of Neuropathology and Experimental Neurology, 2015
A network of RNA and protein interactions in Fronto Temporal Dementia.
Fontana F et al.
Frontiers in Molecular Neuroscience, 2015
Pathogenesis/genetics of frontotemporal dementia and how it relates to ALS.
Bennion Callister J et al.
Experimental Neurology, 2014
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
Clinicopathologic variability of the GRN A9D mutation, including amyotrophic lateral sclerosis.
Cannon A et al.
Neurology, 2013
From primary progressive aphasia to corticobasal syndrome: two clinical and rCBF functional reports.
Caso F et al.
Neurocase, 2013