Phagocytosis in the brain: homeostasis and disease

DA Galloway, AEM Phillips, DRJ Owen… - Frontiers in …, 2019 - frontiersin.org
Microglia are resident macrophages of the central nervous system and significantly
contribute to overall brain function by participating in phagocytosis during development …

[HTML][HTML] Molecular genetics of early-onset Alzheimer's disease revisited

R Cacace, K Sleegers, C Van Broeckhoven - Alzheimer's & dementia, 2016 - Elsevier
As the discovery of the Alzheimer's disease (AD) genes, APP, PSEN1, and PSEN2, in
families with autosomal dominant early-onset AD (EOAD), gene discovery in familial EOAD …

Alzheimer's disease genetics: from the bench to the clinic

CM Karch, C Cruchaga, AM Goate - Neuron, 2014 - cell.com
Alzheimer's disease (AD) is a clinically heterogeneous neurodegenerative disease with a
strong genetic component. Several genes have been associated with AD risk for nearly 20 …

Rare Variants in APP, PSEN1 and PSEN2 Increase Risk for AD in Late-Onset Alzheimer's Disease Families

C Cruchaga, S Chakraverty, K Mayo, FLM Vallania… - PloS one, 2012 - journals.plos.org
Pathogenic mutations in APP, PSEN1, PSEN2, MAPT and GRN have previously been linked
to familial early onset forms of dementia. Mutation screening in these genes has been …

SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

E Rubino, I Rainero, A Chiò, E Rogaeva, D Galimberti… - Neurology, 2012 - AAN Enterprises
Objective: There is increasing evidence that common genetic risk factors underlie
frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). Recently …

Progranulin protects against amyloid β deposition and toxicity in Alzheimer's disease mouse models

SS Minami, SW Min, G Krabbe, C Wang, Y Zhou… - Nature medicine, 2014 - nature.com
Haploinsufficiency of the progranulin (PGRN) gene (GRN) causes familial frontotemporal
lobar degeneration (FTLD) and modulates an innate immune response in humans and in …

Targeting microglia for the treatment of Alzheimer's Disease

PD Wes, FA Sayed, F Bard, L Gan - Glia, 2016 - Wiley Online Library
While histological changes in microglia have long been recognized as a pathological
feature of Alzheimer's disease (AD), recent genetic association studies have also strongly …

Progranulin loss results in sex-dependent dysregulation of the peripheral and central immune system

MC Houser, O Uriarte Huarte, RL Wallings… - Frontiers in …, 2022 - frontiersin.org
Introduction Progranulin (PGRN) is a secreted glycoprotein, the expression of which is
linked to several neurodegenerative diseases. Although its specific function is still unclear …

Increased lysosomal biogenesis in activated microglia and exacerbated neuronal damage after traumatic brain injury in progranulin-deficient mice

Y Tanaka, T Matsuwaki, K Yamanouchi, M Nishihara - Neuroscience, 2013 - Elsevier
Progranulin (PGRN) is known to play a role in the pathogenesis of neurodegenerative
diseases. Recently, it has been demonstrated that patients with the homozygous mutation in …

Alternative splicing of mRNA in the molecular pathology of neurodegenerative diseases

JD Mills, M Janitz - Neurobiology of aging, 2012 - Elsevier
Alternative splicing (AS) is a post-transcriptional process that occurs in multiexon genes, and
errors in this process have been implicated in many human diseases. Until recently …