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 …
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
… 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 …
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 …
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 …
… 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 …
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 …
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
… 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, …
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
… 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 …
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 …
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 …
mechanism underlying frontotemporal dementia (FTD) with ubiquitin-positive brain pathology …