Pathogenic cysteine mutations affect progranulin function and production of mature granulins

J Wang, P Van Damme, C Cruchaga… - Journal of …, 2010 - Wiley Online Library
J. Neurochem.(2010) 112, 1305–1315. Abstract Frontotemporal dementia with ubiquitin‐
positive inclusions (FTLD‐U) can be caused by mutations in the progranulin gene (GRN) …

[HTML][HTML] Missense mutations in the progranulin gene linked to frontotemporal lobar degeneration with ubiquitin-immunoreactive inclusions reduce progranulin …

SS Shankaran, A Capell, AT Hruscha, K Fellerer… - Journal of Biological …, 2008 - ASBMB
Loss of function mutations in progranulin cause tau-negative frontotemporal lobar
degeneration with ubiquitin-positive inclusions. A major protein component of these …

[HTML][HTML] Differential regulation of progranulin derived granulin peptides

T Zhang, H Du, MN Santos, X Wu, MD Pagan… - Molecular …, 2022 - Springer
Background Haploinsufficiency of progranulin (PGRN) is a leading cause of frontotemporal
lobar degeneration (FTLD). PGRN is comprised of 7.5 granulin repeats and is processed …

[HTML][HTML] 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 …

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 …

[HTML][HTML] Lysosomal functions of progranulin and implications for treatment of frontotemporal dementia

MJ Simon, T Logan, SL DeVos, G Di Paolo - Trends in Cell Biology, 2023 - cell.com
Loss-of-function heterozygous mutations in GRN, the gene encoding progranulin (PGRN),
were identified in patients with frontotemporal lobar degeneration (FTLD) almost two …

[HTML][HTML] Progranulin in frontotemporal lobar degeneration and neuroinflammation

Z Ahmed, IRA Mackenzie, ML Hutton… - Journal of …, 2007 - Springer
Progranulin (PGRN) is a pleiotropic protein that has gained the attention of the neuroscience
community with recent discoveries of mutations in the gene for PGRN that cause …

[HTML][HTML] The lysosomal protein cathepsin L is a progranulin protease

CW Lee, JN Stankowski, J Chew, CN Cook… - Molecular …, 2017 - Springer
Haploinsufficiency of GRN, the gene encoding progranulin (PGRN), causes frontotemporal
lobar degeneration (FTLD), the second most common cause of early-onset dementia …

Reduced secretion and altered proteolytic processing caused by missense mutations in progranulin

G Kleinberger, A Capell, N Brouwers, K Fellerer… - Neurobiology of …, 2016 - Elsevier
Progranulin (GRN) is a secreted growth factor involved in various cellular functions, and loss-
of-function mutations are a major cause of frontotemporal lobar degeneration (FTLD) with …

[HTML][HTML] Granulin in frontotemporal lobar degeneration: molecular mechanisms of the disease

ZN Karamysheva, EB Tikhonova… - Frontiers in …, 2019 - frontiersin.org
Frontotemporal lobar degeneration (FTLD) is a pathological process characterized by
severe atrophy in the frontal and temporal lobes of the brain (Mackenzie et al., 2011). There …