Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease

N Brouwers, K Sleegers, S Engelborghs… - Neurology, 2008 - AAN Enterprises
Objective: Loss-of-function mutations in the progranulin gene (PGRN) were identified in
frontotemporal lobar degeneration (FTLD) with ubiquitin-immunoreactive neuronal …

Progranulin mutations in ubiquitin-positive frontotemporal dementia linked to chromosome 17q21

M Cruts, S Kumar-Singh… - Current Alzheimer …, 2006 - ingentaconnect.com
Two genetically distinct types of frontotemporal dementia (FTD) are linked to chromosome
17q21. FTD with parkinsonism (FTDP-17) results from mutations in the gene encoding …

Progranulin gene delivery reduces plaque burden and synaptic atrophy in a mouse model of Alzheimer's disease

JM Van Kampen, DG Kay - PLoS One, 2017 - journals.plos.org
Progranulin (PGRN) is a multifunctional protein that is widely expressed throughout the
brain, where it has been shown to act as a critical regulator of CNS inflammation and also …

Progranulin enhances neural progenitor cell proliferation through glycogen synthase kinase 3β phosphorylation

T Nedachi, T Kawai, T Matsuwaki, K Yamanouchi… - Neuroscience, 2011 - Elsevier
Progranulin (PGRN) is an estrogen-inducible growth factor thought to affect multiple
processes in the CNS, including brain sexual differentiation, adult neurogenesis in the …

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 …

Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia

O Mukherjee, J Wang, M Gitcho, S Chakraverty… - Human …, 2008 - Wiley Online Library
Frontotemporal dementia (FTD) is a clinical term encompassing dementia characterized by
the presence of two major phenotypes: 1) behavioral and personality disorder, and 2) …

Progranulin locus deletion in frontotemporal dementia

I Gijselinck, J Van der Zee, S Engelborghs… - Human …, 2008 - Wiley Online Library
Abstract Ubiquitin‐positive, tau‐negative, frontotemporal dementia (FTD) is caused by null
mutations in progranulin (PGRN; HUGO gene symbol GRN), suggesting a haploinsufficiency …

Trehalose upregulates progranulin expression in human and mouse models of GRN haploinsufficiency: a novel therapeutic lead to treat frontotemporal dementia

CJ Holler, G Taylor, ZT McEachin, Q Deng… - Molecular …, 2016 - Springer
Background Progranulin (PGRN) is a secreted growth factor important for neuronal survival
and may do so, in part, by regulating lysosome homeostasis. Mutations in the PGRN gene …

Processing of progranulin into granulins involves multiple lysosomal proteases and is affected in frontotemporal lobar degeneration

S Mohan, PJ Sampognaro, AR Argouarch… - Molecular …, 2021 - Springer
Background Progranulin loss-of-function mutations are linked to frontotemporal lobar
degeneration with TDP-43 positive inclusions (FTLD-TDP-Pgrn). Progranulin (PGRN) is an …

Progranulin protects against amyloid β deposition and toxicity in Alzheimer's disease mouse models

SS Minami, SW Min, G Krabbe, C Wang, Y Zhou… - Nature medicine, 2014 - nature.com
Haploinsufficiency of the progranulin (PGRN) gene (GRN) causes familial frontotemporal
lobar degeneration (FTLD) and modulates an innate immune response in humans and in …