[HTML][HTML] Granulin in frontotemporal lobar degeneration: molecular mechanisms of the disease

ZN Karamysheva, EB Tikhonova… - Frontiers in …, 2019 - frontiersin.org
Mutations in GRN are one of the major causes of FTLD and found in 11.2% of patients,
therefore progranulin is an important emerging target to develop better treatments (Abella et al., …

Progranulin and frontotemporal lobar degeneration

M Hosokawa, T Arai - Progranulin and Central Nervous System Disorders, 2019 - Springer
… of ubiquitin-positive inclusion bodies. Since then, more than 190 GRN mutations have been
… The tau-negative, ubiquitin-positive inclusions that were seen in GRN mutation brains were …

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
Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar
degeneration… Neuropathologic features of frontotemporal lobar degeneration with …

Missense mutations in progranulin gene associated with frontotemporal lobar degeneration: study of pathogenetic features

CM Karch, L Ezerskiy, V Redaelli, AR Giovagnoli… - Neurobiology of …, 2016 - Elsevier
… as a gene linked to frontotemporal lobar degeneration (FTLD). The first mutations identified
were null mutations giving rise to … of ubiquitin-positive frontotemporal lobar degeneration

[HTML][HTML] Recent advances in the molecular genetics of frontotemporal lobar degeneration

I Rainero, E Rubino, A Michelerio, F D'Agata… - Functional …, 2017 - ncbi.nlm.nih.gov
… Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to …
CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an …

[HTML][HTML] Progranulin as a therapeutic target in neurodegenerative diseases

H Rhinn, N Tatton, S McCaughey, M Kurnellas… - Trends in …, 2022 - cell.com
… Genetic deficiency from loss-of-function mutations and single-nucleotide polymorphisms
may cause a reduction in progranulin levels. Progranulin deficiency has been implicated in …

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

A Papegaey, S Eddarkaoui, V Deramecourt… - Acta neuropathologica …, 2016 - Springer
… Together, our results demonstrate a strong association between progranulin deficiency and
… Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to …

Progranulin: functions and neurologic correlations

RA Townley, BF Boeve, EE Benarroch - Neurology, 2018 - AAN Enterprises
… Autosomal dominant mutations of the progranulin (GRN) gene leading to protein … Null
mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome …

Progranulin: a new avenue towards the understanding and treatment of neurodegenerative disease

BP Chitramuthu, HPJ Bennett, A Bateman - Brain, 2017 - academic.oup.com
… GRN mutations result in FTLD-TDP type A, characterized by short dystrophic neurites,
ubiquitin-positive- neuronal cytoplasmic inclusions concentrated in neocortical layer 2 and often …

Impaired β-glucocerebrosidase activity and processing in frontotemporal dementia due to progranulin mutations

AE Arrant, JR Roth, NR Boyle, SN Kashyap… - Acta neuropathologica …, 2019 - Springer
cause of frontotemporal dementia. Most pathogenic GRN mutations result in progranulin
haploinsufficiency, which is thought to cause frontotemporal dementia in GRN mutation