[HTML][HTML] Missense mutations in the progranulin gene linked to frontotemporal lobar degeneration with ubiquitin-immunoreactive inclusions reduce progranulin …
SS Shankaran, A Capell, AT Hruscha, K Fellerer… - Journal of Biological …, 2008 - ASBMB
Loss of function mutations in progranulin cause tau-negative frontotemporal lobar
degeneration with ubiquitin-positive inclusions. A major protein component of these …
degeneration with ubiquitin-positive inclusions. A major protein component of these …
Progranulin genetic variability contributes to amyotrophic lateral sclerosis
K Sleegers, N Brouwers, S Maurer-Stroh, MA Van Es… - Neurology, 2008 - AAN Enterprises
Objectives: Null mutations in progranulin (PGRN) cause ubiquitin-positive frontotemporal
dementia (FTD) linked to chromosome 17q21 (FTDU-17). Here we examined PGRN genetic …
dementia (FTD) linked to chromosome 17q21 (FTDU-17). Here we examined PGRN genetic …
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 …
patients with ubiquitin pathology. GRN transcript haploinsufficiency is proposed as a …
[HTML][HTML] Patients with sporadic FTLD exhibit similar increases in lysosomal proteins and storage material as patients with FTD due to GRN mutations
SE Davis, AK Cook, JA Hall, Y Voskobiynyk… - Acta neuropathologica …, 2023 - Springer
Loss of function progranulin (GRN) mutations are a major autosomal dominant cause of
frontotemporal dementia (FTD). Patients with FTD due to GRN mutations (FTD-GRN) …
frontotemporal dementia (FTD). Patients with FTD due to GRN mutations (FTD-GRN) …
New mutations in MAPT gene causing frontotemporal lobar degeneration: biochemical and structural characterization
G Rossi, A Bastone, E Piccoli, G Mazzoleni… - Neurobiology of …, 2012 - Elsevier
Frontotemporal lobar degeneration (FTLD) can be sporadic or familial. The genes encoding
the microtubule-associated protein tau (MAPT) and progranulin (GRN) are the most relevant …
the microtubule-associated protein tau (MAPT) and progranulin (GRN) are the most relevant …
The genetics of frontotemporal lobar degeneration
R Rademakers, M Hutton - Current neurology and neuroscience reports, 2007 - Springer
The clinical disorders associated with frontotemporal lobar degeneration (FTLD) are
increasingly recognized as an important cause of early-onset dementia. Patients usually …
increasingly recognized as an important cause of early-onset dementia. Patients usually …
Modifiers of GRN-associated frontotemporal lobar degeneration
E Wauters, S Van Mossevelde, J Van der Zee… - Trends in molecular …, 2017 - cell.com
Heterozygous loss-of-function (LOF) mutations in the human progranulin gene (GRN) cause
frontotemporal lobar degeneration (FTLD) by a mechanism of haploinsufficiency. Patients …
frontotemporal lobar degeneration (FTLD) by a mechanism of haploinsufficiency. Patients …
The neuropathology and clinical phenotype of FTD with progranulin mutations
IRA Mackenzie - Acta neuropathologica, 2007 - Springer
Mutations in the progranulin gene (PGRN), on chromosome 17q21, have recently been
identified as a major cause of familial frontotemporal dementia (FTD). These cases have a …
identified as a major cause of familial frontotemporal dementia (FTD). These cases have a …
The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration
CE Yu, TD Bird, LM Bekris, TJ Montine… - Archives of …, 2010 - jamanetwork.com
Background Mutation in the progranulin gene (GRN) can cause frontotemporal dementia
(FTD). However, it is unclear whether some rare FTD-relatedGRNvariants are pathogenic …
(FTD). However, it is unclear whether some rare FTD-relatedGRNvariants are pathogenic …
Characteristics of frontotemporal dementia patients with a Progranulin mutation
ED Huey, J Grafman, EM Wassermann… - Annals of Neurology …, 2006 - Wiley Online Library
Abstract Objective Mutations in the Progranulin gene (PGRN) recently have been
discovered to be associated with frontotemporal dementia (FTD) linked to 17q21 without …
discovered to be associated with frontotemporal dementia (FTD) linked to 17q21 without …