Associated Papers
Transplantation of Human IPSC-derived Microglia Ameliorates Neuropathology and Circuit Dysfunction in Progranulin-Deficient Mice.
Davtyan H et al.
Research Square, 2026
Transplantation of Human IPSC-derived Microglia Ameliorates Neuropathology and Circuit Dysfunction in Progranulin-Deficient Mice.
Davtyan H et al.
Biorxiv : the Preprint Server for Biology, 2026
Pathogenic or Likely Pathogenic GRN Variants Are Found in 0.1% of Parkinson's Disease Patients.
Ganoza CA et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 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
The genetic landscape of frontotemporal lobar degeneration: investigation of a diagnostic cohort of 2747 probands.
Cogan G et al.
Brain : a Journal of Neurology, 2025
Frontotemporal dementia as a consequence of GRN mutations: From disease cause to models to therapies.
Salzano S et al.
Pharmacological Research, 2025
The first report of ceroid lipofuscinosis type 11 in China: a novel mutation of GRN and updated clinical review.
Shi D et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Targeting Granulin Haploinsufficiency in Frontotemporal Dementia: From Genetic Mechanisms to Therapeutics.
Bagyinszky E et al.
International Journal of Molecular Sciences, 2025
Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.
Khani M et al.
Nature Communications, 2025
Cytokine-induced reprogramming of human macrophages toward Alzheimer's disease-relevant molecular and cellular phenotypes in vitro.
Podleśny-Drabiniok A et al.
Cell Reports, 2025
TFEB overexpression alleviates autophagy-lysosomal deficits caused by progranulin insufficiency.
Nader WO et al.
Scientific Reports, 2025
High-fidelity and differential nonsense suppression in live cells and a frontotemporal dementia allele with human transfer RNAs.
Beharry A et al.
Nucleic Acids Research, 2025
Cognitive Decline in Parkinsonism: From Clinical Phenotypes to the Genetic Background.
Koros C et al.
Biomedicines, 2025
Amyotrophic lateral sclerosis and frontotemporal dementia mutation reduces endothelial TDP-43 and causes blood-brain barrier defects.
Cheemala A et al.
Science Advances, 2025
Progranulin deficiency in the brain: the interplay between neuronal and non-neuronal cells.
Gaweda-Walerych K et al.
Translational Neurodegeneration, 2025
A new hypothesis to explain disease dominance.
Juvik B et al.
Trends in Genetics : Tig, 2025
Induced pluripotent stem cell-derived macrophages as a platform for modelling human disease.
Tiwari SK et al.
Nature Reviews. Immunology, 2025
Neuronal Ceroid Lipofuscinosis-Concepts, Classification, and Avenues for Therapy.
Zhang Y et al.
Cns Neuroscience & Therapeutics, 2025
Further description of the phenotypic spectrum of neuronal ceroid lipofuscinosis type 11.
Nóbrega PR et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Biochemical, Biomarker, and Behavioral Characterization of the GrnR493X Mouse Model of Frontotemporal Dementia.
Smith DM et al.
Molecular Neurobiology, 2024
Benzoxazole-derivatives enhance progranulin expression and reverse the aberrant lysosomal proteome caused by GRN haploinsufficiency.
Tesla R et al.
Nature Communications, 2024
Progranulin AAV gene therapy for frontotemporal dementia: translational studies and phase 1/2 trial interim results.
Sevigny J et al.
Nature Medicine, 2024
Epigenetic modulation through BET bromodomain inhibitors as a novel therapeutic strategy for progranulin-deficient frontotemporal dementia.
Rosenthal ZC et al.
Scientific Reports, 2024
Biochemical, biomarker, and behavioral characterization of the GrnR493X mouse model of frontotemporal dementia.
Smith DM et al.
Biorxiv : the Preprint Server for Biology, 2024
Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates.
Cao Z et al.
Molecular Genetics & Genomic Medicine, 2024
Fusion of histone variants to Cas9 suppresses non-homologous end joining.
Kato-Inui T et al.
Plos One, 2024
Loss of Endothelial TDP-43 Leads to Blood Brain Barrier Defects in Mouse Models of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.
Cheemala A et al.
Biorxiv : the Preprint Server for Biology, 2023
Progranulin and GPNMB: interactions in endo-lysosome function and inflammation in neurodegenerative disease.
Gillett DA et al.
Journal of Neuroinflammation, 2023
Case report: coexistence of C9orf72 expansion and progranulin mutation in a case of genetic frontotemporal dementia-clinical features and neuroimaging correlates.
Ghirelli A et al.
Journal of Neurology, 2023
TDP-43 forms amyloid filaments with a distinct fold in type A FTLD-TDP.
Arseni D et al.
Nature, 2023
Progranulin deficiency results in sex-dependent alterations in microglia in response to demyelination.
Zhang T et al.
Acta Neuropathologica, 2023
Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.
Li S et al.
Biomolecules, 2023
hiPSC-derived GRN-deficient astrocytes delay spiking activity of developing neurons.
Lee C et al.
Neurobiology of Disease, 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
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
Disrupted myelin lipid metabolism differentiates frontotemporal dementia caused by GRN and C9orf72 gene mutations.
Marian OC 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
Frontotemporal Dementia Patient Neurons With Progranulin Deficiency Display Protein Dyshomeostasis.
Elia L et al.
Biorxiv : the Preprint Server for Biology, 2023