[HTML][HTML] Lysosome dysfunction as a cause of neurodegenerative diseases: Lessons from frontotemporal dementia and amyotrophic lateral sclerosis

J Root, P Merino, A Nuckols, M Johnson… - Neurobiology of disease, 2021 - Elsevier
Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are fatal
neurodegenerative disorders that are thought to exist on a clinical and pathological …

[PDF][PDF] Myeloid cells in the central nervous system

J Herz, AJ Filiano, AT Wiltbank, N Yogev, J Kipnis - Immunity, 2017 - cell.com
The central nervous system (CNS) and its meningeal coverings accommodate a diverse
myeloid compartment that includes parenchymal microglia and perivascular macrophages …

Unexpected role of interferon-γ in regulating neuronal connectivity and social behaviour

AJ Filiano, Y Xu, NJ Tustison, RL Marsh, W Baker… - Nature, 2016 - nature.com
Immune dysfunction is commonly associated with several neurological and mental
disorders. Although the mechanisms by which peripheral immunity may influence neuronal …

Neurovascular dysfunction in GRN-associated frontotemporal dementia identified by single-nucleus RNA sequencing of human cerebral cortex

E Gerrits, LAA Giannini, N Brouwer, S Melhem… - Nature …, 2022 - nature.com
Frontotemporal dementia (FTD) is the second most prevalent form of early-onset dementia,
affecting predominantly frontal and temporal cerebral lobes. Heterozygous mutations in the …

[PDF][PDF] C9orf72 deficiency promotes microglial-mediated synaptic loss in aging and amyloid accumulation

D Lall, I Lorenzini, TA Mota, S Bell, TE Mahan… - Neuron, 2021 - cell.com
C9orf72 repeat expansions cause inherited amyotrophic lateral sclerosis
(ALS)/frontotemporal dementia (FTD) and result in both loss of C9orf72 protein expression …

Neuroinflammation in frontotemporal dementia

F Bright, EL Werry, C Dobson-Stone, O Piguet… - Nature Reviews …, 2019 - nature.com
Frontotemporal dementia (FTD) refers to a group of progressive neurodegenerative
disorders with different pathological signatures, genetic variability and complex disease …

The neuropathology and cerebrovascular mechanisms of dementia

L Raz, J Knoefel, K Bhaskar - Journal of Cerebral Blood Flow …, 2016 - journals.sagepub.com
The prevalence of dementia is increasing in our aging population at an alarming rate.
Because of the heterogeneity of clinical presentation and complexity of disease …

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 …

[PDF][PDF] Human C9ORF72 hexanucleotide expansion reproduces RNA foci and dipeptide repeat proteins but not neurodegeneration in BAC transgenic mice

OM Peters, GT Cabrera, H Tran, TF Gendron… - Neuron, 2015 - cell.com
A non-coding hexanucleotide repeat expansion in the C9ORF72 gene is the most common
mutation associated with familial amyotrophic lateral sclerosis (ALS) and frontotemporal …

Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis

ME Ward, R Chen, HY Huang, C Ludwig… - Science translational …, 2017 - science.org
Heterozygous mutations in the GRN gene lead to progranulin (PGRN) haploinsufficiency
and cause frontotemporal dementia (FTD), a neurodegenerative syndrome of older adults …