Mechanisms of granulin deficiency: lessons from cellular and animal models

G Kleinberger, A Capell, C Haass… - Molecular …, 2013 - Springer
The identification of causative mutations in the (pro) granulin gene (GRN) has been a major
breakthrough in the research on frontotemporal dementia (FTD). So far, all FTD-associated …

Microglial upregulation of progranulin as a marker of motor neuron degeneration

T Philips, L De Muynck… - … of Neuropathology & …, 2010 - academic.oup.com
Frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) are
overlapping neurodegenerative disorders. Mutations in the growth factor progranulin …

GRN Thr272fs clinical heterogeneity: a case with atypical late onset presenting with a dementia with Lewy bodies phenotype

B Arosio, C Abbate, D Galimberti… - Journal of …, 2013 - content.iospress.com
We describe a case of late onset frontotemporal dementia carrying the g. 1977 1980
delCACT (Thr272fs) mutation in progranulin (GRN) gene, characterized by a positive family …

Progranulin deficiency leads to enhanced cell vulnerability and TDP-43 translocation in primary neuronal cultures

A Guo, L Tapia, SX Bamji, MS Cynader, W Jia - Brain research, 2010 - Elsevier
Null mutations in the progranulin gene (PGRN) have been identified as a major cause of
frontotemporal dementia with ubiquitinated inclusions. In this disorder, ubiquitinated …

Progranulin mutation causes frontotemporal dementia in the Swedish Karolinska family

HH Chiang, L Rosvall, J Brohede, K Axelman… - Alzheimer's & …, 2008 - Elsevier
BACKGROUND: Frontotemporal dementia (FTD) is a neurodegenerative disease
characterized by cognitive impairment, language dysfunction, and/or changes in personality …

[PDF][PDF] Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma

MM Carrasquillo, AM Nicholson, NC Finch… - The American Journal of …, 2010 - cell.com
Recent studies suggest progranulin (GRN) is a neurotrophic factor. Loss-of-function
mutations in the progranulin gene (GRN) cause frontotemporal lobar degeneration (FTLD), a …

Prominent phenotypic variability associated with mutations in Progranulin

BJ Kelley, W Haidar, BF Boeve, M Baker… - Neurobiology of …, 2009 - Elsevier
Mutations in progranulin (PGRN) are associated with frontotemporal dementia with or
without parkinsonism. We describe the prominent phenotypic variability within and among …

Phenotypic variability of familial and sporadic Progranulin p. Gln257Profs* 27 mutation

C Pires, M Coelho, A Valadas… - Journal of …, 2013 - content.iospress.com
The clinical phenotype of frontotemporal dementia patients carrying progranulin (GRN)
mutations is known to be heterogeneous. We present a patient with corticobasal syndrome …

A mutation in the 5′-UTR of GRN gene associated with frontotemporal lobar degeneration: phenotypic variability and possible pathogenetic mechanisms

G Puoti, MC Lerza, MG Ferretti… - Journal of …, 2014 - content.iospress.com
Frontotemporal lobar degeneration (FTLD) is a very heterogeneous disorder. It is genetically
linked to three major genes: microtubule-associated protein tau (MAPT), progranulin (GRN) …

Progranulin promotes neurite outgrowth and neuronal differentiation by regulating GSK-3β

X Gao, AP Joselin, L Wang, A Kar, P Ray, A Bateman… - Protein & cell, 2010 - Springer
Progranulin (PGRN) has recently emerged as a key player in a subset of frontotemporal
dementias (FTD). Numerous mutations in the progranulin gene have been identified in …