Associated Papers
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
Frontotemporal dementia as a consequence of GRN mutations: From disease cause to models to therapies.
Salzano S et al.
Pharmacological Research, 2025
Targeting Granulin Haploinsufficiency in Frontotemporal Dementia: From Genetic Mechanisms to Therapeutics.
Bagyinszky E 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
Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.
Li S et al.
Biomolecules, 2023
Patients with sporadic FTLD exhibit similar increases in lysosomal proteins and storage material as patients with FTD due to GRN mutations.
Davis SE et al.
Acta Neuropathologica Communications, 2023
Astroglial toxicity promotes synaptic degeneration in the thalamocortical circuit in frontotemporal dementia with GRN mutations.
Marsan E et al.
The Journal of Clinical Investigation, 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
Tweaking Progranulin Expression: Therapeutic Avenues and Opportunities.
Terryn J 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
Premature termination codon readthrough upregulates progranulin expression and improves lysosomal function in preclinical models of GRN deficiency.
Frew J et al.
Molecular Neurodegeneration, 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
Modeling Parkinson's Disease and Atypical Parkinsonian Syndromes Using Induced Pluripotent Stem Cells.
Mishima T et al.
International Journal of Molecular Sciences, 2018
Precision medicine of frontotemporal dementia: from genotype to phenotype.
Che XQ et al.
Frontiers in Bioscience (landmark Edition), 2018
iPhemap: an atlas of phenotype to genotype relationships of human iPSC models of neurological diseases.
Hollingsworth EW et al.
Embo Molecular Medicine, 2017
ALS/FTLD: experimental models and reality.
Tan RH et al.
Acta Neuropathologica, 2017
Current Advances and Limitations in Modeling ALS/FTD in a Dish Using Induced Pluripotent Stem Cells.
Guo W et al.
Frontiers in Neuroscience, 2017
MMP-9 and MMP-2 Contribute to Neuronal Cell Death in iPSC Models of Frontotemporal Dementia with MAPT Mutations.
Biswas MHU et al.
Stem Cell Reports, 2016
Suberoylanilide hydroxamic acid increases progranulin production in iPSC-derived cortical neurons of frontotemporal dementia patients.
Almeida S et al.
Neurobiology of Aging, 2016
Restoration of progranulin expression rescues cortical neuron generation in an induced pluripotent stem cell model of frontotemporal dementia.
Raitano S et al.
Stem Cell Reports, 2015
Alterations in microRNA-124 and AMPA receptors contribute to social behavioral deficits in frontotemporal dementia.
Gascon E et al.
Nature Medicine, 2014
Early retinal neurodegeneration and impaired Ran-mediated nuclear import of TDP-43 in progranulin-deficient FTLD.
Ward ME et al.
The Journal of Experimental Medicine, 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
Targeted manipulation of the sortilin-progranulin axis rescues progranulin haploinsufficiency.
Lee WC et al.
Human Molecular Genetics, 2014
Induced pluripotent stem cell models of progranulin-deficient frontotemporal dementia uncover specific reversible neuronal defects.
Almeida S et al.
Cell Reports, 2012
Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration.
Chen-Plotkin AS et al.
Archives of Neurology, 2011
The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration.
Yu CE et al.
Archives of Neurology, 2010
Stem cells on the brain: modeling neurodevelopmental and neurodegenerative diseases using human induced pluripotent stem cells.
Srikanth P et al.
Journal of Neurogenetics, 0