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 …

Targeting nonsense-mediated RNA decay does not increase progranulin levels in the Grn R493X mouse model of frontotemporal dementia

DM Smith, ML Niehoff, K Ling, P Jafar-Nejad, F Rigo… - Plos one, 2023 - journals.plos.org
A common cause of frontotemporal dementia (FTD) are nonsense mutations in the
progranulin (GRN) gene. Because nonsense mutations activate the nonsense-mediated …

Neuropathological and behavioral characterization of aged Grn R493X progranulin-deficient frontotemporal dementia knockin mice

J Frew, HB Nygaard - Acta Neuropathologica Communications, 2021 - Springer
Frontotemporal lobar degeneration (FTLD) causes a spectrum of clinical presentations of
frontotemporal dementia (FTD), including progressive changes in behavior, personality …

Progranulin deficiency causes impairment of autophagy and TDP-43 accumulation

MC Chang, K Srinivasan, BA Friedman… - Journal of Experimental …, 2017 - rupress.org
Loss-of-function mutations in GRN cause frontotemporal dementia (FTD) with transactive
response DNA-binding protein of 43 kD (TDP-43)–positive inclusions and neuronal ceroid …

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 …

[PDF][PDF] 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 …

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 …

[HTML][HTML] New insights and therapeutic opportunities for progranulin-deficient frontotemporal dementia

S Amin, G Carling, L Gan - Current Opinion in Neurobiology, 2022 - Elsevier
Frontotemporal dementia (FTD) is the second most common form of dementia. It affects the
frontal and temporal lobes of the brain and has a highly heterogeneous clinical …

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 …