Accumulation of multiple neurodegenerative disease-related proteins in familial frontotemporal lobar degeneration associated with granulin mutation

M Hosokawa, H Kondo, GE Serrano, TG Beach… - Scientific reports, 2017 - nature.com
In 2006, mutations in the granulin gene were identified in patients with familial
Frontotemporal Lobar Degeneration. Granulin transcript haploinsufficiency has been …

Progranulin reduction is associated with increased tau phosphorylation in P301L tau transgenic mice

M Hosokawa, T Arai… - … of Neuropathology & …, 2015 - academic.oup.com
Granulin (GRN) mutations have been identified in familial frontotemporal lobar degeneration
patients with ubiquitin pathology. GRN transcript haploinsufficiency is proposed as a …

Progranulin haploinsufficiency reduces amyloid beta deposition in Alzheimer's disease model mice

M Hosokawa, Y Tanaka, T Arai, H Kondo… - Experimental …, 2018 - jstage.jst.go.jp
Granulin (Grn) mutations were identified in familial frontotemporal lobar degeneration
(FTLD) patients with TAR DNA-binding protein of 43 kd (TDP-43) pathology. Grn transcript …

Disease and region specificity of granulin immunopositivities in Alzheimer disease and frontotemporal lobar degeneration

Q Mao, D Wang, Y Li, M Kohler, J Wilson… - … of Neuropathology & …, 2017 - academic.oup.com
Heterozygous loss-of-function mutations in GRN, the progranulin gene, which result in
progranulin (PGRN) protein haploinsufficiency, are a major cause of frontotemporal lobar …

Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update

I Gijselinck, C Van Broeckhoven, M Cruts - Human mutation, 2008 - Wiley Online Library
Mutations in the gene encoding granulin (HUGO gene symbol GRN, also referred to as
progranulin, PGRN), located at chromosome 17q21, were recently linked to tau‐negative …

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 …

Reduced Tau protein expression is associated with frontotemporal degeneration with progranulin mutation

A Papegaey, S Eddarkaoui, V Deramecourt… - Acta neuropathologica …, 2016 - Springer
Reduction of Tau protein expression was described in 2003 by Zhukareva et al. in a variant
of frontotemporal lobar degeneration (FTLD) referred to as diagnosis of dementia lacking …

Progranulin: a proteolytically processed protein at the crossroads of inflammation and neurodegeneration

B Cenik, CF Sephton, BK Cenik, J Herz, G Yu - Journal of Biological …, 2012 - ASBMB
GRN mutations cause frontotemporal lobar degeneration with TDP-43-positive inclusions.
The mechanism of pathogenesis is haploinsufficiency. Recently, homozygous GRN …

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) …

Progranulin: normal function and role in neurodegeneration

JL Eriksen, IRA Mackenzie - Journal of neurochemistry, 2008 - Wiley Online Library
Progranulin (PGRN) is a multifunctional protein that has attracted significant attention in the
neuroscience community following the recent discovery of PGRN mutations in some cases …