Portuguese family with the co-occurrence of frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis phenotypes due to progranulin gene mutation

MR Almeida, MC Macário, L Ramos, I Baldeiras… - Neurobiology of …, 2016 - Elsevier
progranulin deficiency because of a homozygous mutation in a … NCL caused by a homozygous
progranulin mutation segregating … Null mutations in progranulin cause ubiquitin-positive

A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series

J Beck, JD Rohrer, T Campbell, A Isaacs, KE Morrison… - Brain, 2008 - academic.oup.com
Mutations in the progranulin gene (GRN) are a major cause of frontotemporal lobar degeneration
with ubiquitin-positive, tau-negative inclusions (FTLD-U) but the distinguishing clinical …

[HTML][HTML] Accelerated lipofuscinosis and ubiquitination in granulin knockout mice suggest a role for progranulin in successful aging

Z Ahmed, H Sheng, Y Xu, WL Lin, AE Innes… - The American journal of …, 2010 - Elsevier
mutations) is characterized by ubiquitin-positive intracytoplasmic and sometimes intranuclear
neuronal inclusions. The major … in FTLD-U with GRN mutations results in redistribution and …

Frontotemporal lobar degeneration

D Galimberti, E Scarpini - Diet and nutrition in dementia and cognitive …, 2015 - Elsevier
… main components of the ubiquitin-positive inclusions typical of the GRN-mutated families, as
Mutations in GRN do not lead to progranulin deposition in the brain but instead to an altered …

[HTML][HTML] Behavioral deficits and progressive neuropathology in progranulin-deficient mice: a mouse model of frontotemporal dementia

F Yin, M Dumont, R Banerjee, Y Ma, H Li… - The FASEB …, 2010 - ncbi.nlm.nih.gov
… Loss-of-function mutations in the progranulin gene were recently identified to cause tau-negative,
ubiquitin-positive frontotemporal dementia (FTD) (8, 9), the second most common …

[HTML][HTML] 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
… are linked to frontotemporal lobar degeneration with TDP-43 positive inclusions (FTLD-TDP-…
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to …

… proteolysis of progranulin generates stable, lysosomal granulins that are haploinsufficient in patients with frontotemporal dementia caused by GRN mutations

CJ Holler, G Taylor, Q Deng, T Kukar - Eneuro, 2017 - eneuro.org
… Moreover, deficiency of GRNs in frontotemporal dementia (FTD) caused by GRN mutations
may play a causal role in the development of lysosome dysfunction that underlies FTD-GRN, …

Novel progranulin mutation: screening for PGRN mutations in a Portuguese series of FTD/CBS cases

RJ Guerreiro, I Santana, JM Bras, T Revesz… - Movement …, 2008 - Wiley Online Library
Mutations in the progranulin (PGRN) gene were recently described as the cause of ubiquitin
positive frontotemporal … populations leading us to determine if these mutations were a major

Progranulin genetic screening in frontotemporal lobar degeneration patients from central Italy

S Bagnoli, I Piaceri, A Tedde, S Piacentini… - Cellular and molecular …, 2012 - Springer
… , mutations in the progranulin gene (GRN) were reported to account for the vast majority of
Frontotemporal lobar Degeneration (… Two different pathogenic mutations causing progranulin

Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia

J van der Zee, I Le Ber, S Maurer‐Stroh… - … mutation, 2007 - Wiley Online Library
… Null mutations in the progranulin gene (GRN, PGRN) were recently identified as the causal
mechanism underlying frontotemporal dementia (FTD) with ubiquitin-positive brain pathology …