Neurovascular dysfunction in GRN-associated frontotemporal dementia identified by single-nucleus RNA sequencing of human cerebral cortex

E Gerrits, LAA Giannini, N Brouwer, S Melhem… - Nature …, 2022 - nature.com
Frontotemporal dementia (FTD) is the second most prevalent form of early-onset dementia,
affecting predominantly frontal and temporal cerebral lobes. Heterozygous mutations in the …

Murine knockin model for progranulin-deficient frontotemporal dementia with nonsense-mediated mRNA decay

AD Nguyen, TA Nguyen, J Zhang… - Proceedings of the …, 2018 - National Acad Sciences
Frontotemporal dementia (FTD) is the most common neurodegenerative disorder in
individuals under age 60 and has no treatment or cure. Because many cases of FTD result …

Brain progranulin expression in GRN-associated frontotemporal lobar degeneration

AS Chen-Plotkin, J Xiao, F Geser, M Martinez-Lage… - Acta …, 2010 - Springer
Frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) is characterized by
progressive decline in behavior, executive function, and language. Progranulin (GRN) gene …

Microglial lysosome dysfunction contributes to white matter pathology and TDP-43 proteinopathy in GRN-associated FTD

Y Wu, W Shao, TW Todd, J Tong, M Yue, S Koga… - Cell reports, 2021 - cell.com
Loss-of-function mutations in the progranulin gene (GRN), which encodes progranulin
(PGRN), are a major cause of frontotemporal dementia (FTD). GRN-associated FTD is …

Network analysis of the progranulin-deficient mouse brain proteome reveals pathogenic mechanisms shared in human frontotemporal dementia caused by GRN …

M Huang, E Modeste, E Dammer, P Merino… - Acta neuropathologica …, 2020 - Springer
Heterozygous, loss-of-function mutations in the granulin gene (GRN) encoding progranulin
(PGRN) are a common cause of frontotemporal dementia (FTD). Homozygous GRN …

Core features of frontotemporal dementia recapitulated in progranulin knockout mice

N Ghoshal, JT Dearborn, DF Wozniak, NJ Cairns - Neurobiology of disease, 2012 - Elsevier
Frontotemporal dementia (FTD) is typified by behavioral and cognitive changes manifested
as altered social comportment and impaired memory performance. To investigate the …

Variations in the progranulin gene affect global gene expression in frontotemporal lobar degeneration

AS Chen-Plotkin, F Geser, JB Plotkin… - Human molecular …, 2008 - academic.oup.com
Frontotemporal lobar degeneration is a fatal neurodegenerative disease that results in
progressive decline in behavior, executive function and sometimes language. Disease …

Astroglial toxicity promotes synaptic degeneration in the thalamocortical circuit in frontotemporal dementia with GRN mutations

E Marsan, D Velmeshev, A Ramsey… - The Journal of …, 2023 - Am Soc Clin Investig
Mutations in the human progranulin (GRN) gene are a leading cause of frontotemporal lobar
degeneration (FTLD). While previous studies implicate aberrant microglial activation as a …

Dissociation of frontotemporal dementia–related deficits and neuroinflammation in progranulin haploinsufficient mice

AJ Filiano, LH Martens, AH Young… - Journal of …, 2013 - Soc Neuroscience
Frontotemporal dementia (FTD) is a neurodegenerative disease with hallmark deficits in
social and emotional function. Heterozygous loss-of-function mutations in GRN, the …

Extensive white matter involvement in patients with frontotemporal lobar degeneration: think progranulin

P Caroppo, I Le Ber, A Camuzat, F Clot… - JAMA …, 2014 - jamanetwork.com
Importance Mutations in the progranulin (GRN) gene are responsible for 20% of familial
cases of frontotemporal dementias. All cause haploinsufficiency of progranulin, a protein …