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 …

[HTML][HTML] C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic

A Wojtas, KA Heggeli, NC Finch, M Baker… - American journal of …, 2012 - ncbi.nlm.nih.gov
Alzheimer disease (AD) and frontotemporal dementia (FTD) are two frequent forms of
primary neurodegenerative dementias with overlapping clinical symptoms. Pathogenic …

[HTML][HTML] Reduced progranulin increases tau and α-synuclein inclusions and alters mouse tauopathy phenotypes via glucocerebrosidase

H Takahashi, S Bhagwagar, SH Nies, H Ye… - Nature …, 2024 - nature.com
Comorbid proteinopathies are observed in many neurodegenerative disorders including
Alzheimer's disease (AD), increase with age, and influence clinical outcomes, yet the …

Rs5848 variant influences GRN mRNA levels in brain and peripheral mononuclear cells in patients with Alzheimer's disease

C Fenoglio, D Galimberti, F Cortini… - Journal of …, 2009 - content.iospress.com
Mutations in the progranulin gene (GRN), causative for Frontotemporal Lobar Degeneration
with ubiquitinimmunoreactive neuronal inclusions (FTLD-U), could also be associated with …

[HTML][HTML] 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 …

[HTML][HTML] Promoter DNA methylation regulates progranulin expression and is altered in FTLD

J Banzhaf-Strathmann, R Claus, O Mücke… - Acta neuropathologica …, 2013 - Springer
Background Frontotemporal lobar degeneration (FTLD) is a heterogeneous group of
neurodegenerative diseases associated with personality changes and progressive …

Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson disease

A Rovelet-Lecrux, V Deramecourt, S Legallic… - Neurobiology of …, 2008 - Elsevier
Progranulin gene (PGRN) mutations cause ubiquitin-positive frontotemporal lobar
degeneration linked to chromosome 17 (FTLDU-17). The spectrum of known mutations …

[HTML][HTML] Genetic screening in early-onset dementia patients with unclear phenotype: relevance for clinical diagnosis

F Perrone, R Cacace, S Van Mossevelde… - Neurobiology of …, 2018 - Elsevier
In a prospective study of dementia in Flanders (Belgium), we observed a substantial fraction
of early-onset dementia patients who did not fulfill the criteria for a specific dementia …

Progranulin: an emerging target for FTLD therapies

J Gass, M Prudencio, C Stetler, L Petrucelli - Brain research, 2012 - Elsevier
Frontotemporal lobar degeneration (FTLD), a neurodegenerative disease primarily affecting
the frontal and temporal lobes, is one of the most common types of dementia. While the …

Recent insights into the molecular genetics of dementia

R Rademakers, A Rovelet-Lecrux - Trends in neurosciences, 2009 - cell.com
Our understanding of the molecular genetic basis of two common neurodegenerative
dementias, Alzheimer's disease (AD) and frontotemporal lobar degeneration (FTLD), has …