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) …
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 …
degeneration with ubiquitin-positive inclusions. A major protein component of these …
[HTML][HTML] Differential regulation of progranulin derived granulin peptides
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 …
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
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 …
(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 …
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 …
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 …
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 …
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 …
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 …
severe atrophy in the frontal and temporal lobes of the brain (Mackenzie et al., 2011). There …