Secretory leukocyte protease inhibitor protein regulates the penetrance of frontotemporal lobar degeneration in progranulin mutation carriers

R Ghidoni, R Flocco, A Paterlini… - Journal of …, 2013 - journals.sagepub.com
The discovery that mutations in the gene encoding for progranulin (GRN) cause
frontotemporal lobar degeneration (FTLD) and other neurodegenerative diseases leading to …

Core neuropathological abnormalities in progranulin-deficient mice are penetrant on multiple genetic backgrounds

TL Petkau, A Hill, BR Leavitt - Neuroscience, 2016 - Elsevier
Loss-of-function mutations in the progranulin gene (GRN) are a common cause of familial
frontotemporal lobar degeneration (FTLD). A high degree of heterogeneity in the age-of …

[HTML][HTML] Potential mechanisms of progranulin-deficient FTLD

ME Ward, BL Miller - Journal of Molecular Neuroscience, 2011 - Springer
Frontotemporal lobar dementia (FTLD) is the most common cause of dementia in patients
younger than 60 years of age, and causes progressive neurodegeneration of the frontal and …

Sorting out frontotemporal dementia?

J Lewis, TE Golde - Neuron, 2010 - cell.com
Mutations within the granulin (GRN) gene that encodes progranulin (PGRN) cause the
neurodegenerative disease frontotemporal lobar degeneration with ubiquitin inclusions …

Variations in the progranulin gene affect global gene expression in frontotemporal lobar degeneration

AS Chen-Plotkin, F Geser, JB Plotkin… - Human molecular …, 2008 - academic.oup.com
Frontotemporal lobar degeneration is a fatal neurodegenerative disease that results in
progressive decline in behavior, executive function and sometimes language. Disease …

Molecular signature of disease onset in granulin mutation carriers: a gene expression analysis study

E Milanesi, C Bonvicini, A Alberici, A Pilotto… - Neurobiology of …, 2013 - Elsevier
Mutations within Granulin (GRN) gene are causative of autosomal dominant frontotemporal
lobar degeneration (FTLD). Though GRN mutations are inherited at birth, the disease onset …

[HTML][HTML] Progranulin, lysosomal regulation and neurodegenerative disease

AW Kao, A McKay, PP Singh, A Brunet… - Nature Reviews …, 2017 - nature.com
The discovery that heterozygous and homozygous mutations in the gene encoding
progranulin are causally linked to frontotemporal dementia and lysosomal storage disease …

Neuropathologic Features of Frontotemporal Lobar Degeneration With Ubiquitin-Positive Inclusions With Progranulin Gene (PGRN) Mutations

KA Josephs, Z Ahmed, O Katsuse… - … of Neuropathology & …, 2007 - academic.oup.com
Frontotemporal lobar degeneration is heterogeneous; cases with tau-and synuclein-
negative, ubiquitin-positive neuronal inclusions are the most common, and some have …

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 …

Sortilin-mediated endocytosis determines levels of the frontotemporal dementia protein, progranulin

F Hu, T Padukkavidana, CB Vægter, OA Brady… - Neuron, 2010 - cell.com
The most common inherited form of Frontotemporal Lobar Degeneration (FTLD) known
stems from Progranulin (GRN) mutation and exhibits TDP-43 plus ubiquitin aggregates …