Progranulin peripheral levels as a screening tool for the identification of subjects with progranulin mutations in a Portuguese cohort

MR Almeida, I Baldeiras, MH Ribeiro… - Neurodegenerative …, 2014 - karger.com
Background: Progranulin (PGRN) mutations are associated with different clinical
phenotypes, including frontotemporal lobar degeneration (FTLD), corticobasal syndrome …

Genetic variation in genes underlying diverse dementias may explain a small proportion of cases in the Alzheimer's Disease Sequencing Project

EE Blue, JC Bis, MO Dorschner, DW Tsuang… - Dementia and geriatric …, 2018 - karger.com
Abstract Background/Aims: The Alzheimer's Disease Sequencing Project (ADSP) aims to
identify novel genes influencing Alzheimer's disease (AD). Variants within genes known to …

Angiogenin prevents progranulin A9D mutation-induced neuronal-like cell apoptosis through cleaving tRNAs into tiRNAs

S Li, Y Chen, D Sun, R Bai, X Gao, Y Yang… - Molecular …, 2018 - Springer
Gene defects have been recognized as prominent factors in the etiology and pathogenesis
of neurodegeneration. Among 60 neurodegeneration-related mutations in progranulin …

Pleiotropic effects of variants in dementia genes in Parkinson disease

L Ibanez, U Dube, AA Davis, MV Fernandez… - Frontiers in …, 2018 - frontiersin.org
Background: The prevalence of dementia in Parkinson disease (PD) increases dramatically
with advancing age, approaching 80% in patients who survive 20 years with the disease …

Significance and limitation of the pathological classification of TDP‐43 proteinopathy

T Arai - Neuropathology, 2014 - Wiley Online Library
Based on the cerebral tans‐activation response DNA protein 43 (TDP‐43)
immunohistochemistry, frontotemporal lobar degeneration with TDP‐43 pathology (FTLD …

Cerebrospinal fluid biomarkers in progranulin mutations carriers

M Carecchio, C Fenoglio, F Cortini… - Journal of …, 2011 - content.iospress.com
Cerebrospinal fluid (CSF) biomarkers (Aß1-42, total tau, P-181 tau) are currently used to
support a clinical diagnosis of Alzheimer's disease (AD). The CSF profile in frontotemporal …

[HTML][HTML] Regulation of extracellular progranulin in medial prefrontal cortex

AK Kaplelach, SN Fox, AK Cook, JA Hall… - Neurobiology of …, 2023 - Elsevier
Progranulin is a secreted pro-protein that has anti-inflammatory and neurotrophic effects and
is necessary for maintaining lysosomal function. Mutations in progranulin (GRN) are a major …

New approaches to genetic counseling and testing for Alzheimer's disease and frontotemporal degeneration

JS Goldman - Current neurology and neuroscience reports, 2012 - Springer
The discovery of new autosomal dominant and susceptibility genes for Alzheimer's disease
(AD) and frontotemporal degeneration (FTD) is revealing important new information about …

Molecular pathways of frontotemporal lobar degeneration

K Sleegers, M Cruts… - Annual review of …, 2010 - annualreviews.org
Frontotemporal lobar degeneration (FTLD) is a neurodegenerative condition that
predominantly affects behavior, social awareness, and language. It is characterized by …

Update on recent molecular and genetic advances in frontotemporal lobar degeneration

EH Bigio - Journal of Neuropathology & Experimental …, 2008 - academic.oup.com
Great strides have been made in the last 2 years in the field of frontotemporal lobar
degeneration (FTLD), particularly with respect to the genetics and molecular biology of FTLD …