[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 …

Diagnostic contribution and therapeutic perspectives of transcranial magnetic stimulation in dementia

V Di Lazzaro, R Bella, A Benussi, M Bologna… - Clinical …, 2021 - Elsevier
Transcranial magnetic stimulation (TMS) is a powerful tool to probe in vivo brain circuits, as it
allows to assess several cortical properties such as excitability, plasticity and connectivity in …

Innate immune activation in neurodegenerative disease

MT Heneka, MP Kummer, E Latz - Nature Reviews Immunology, 2014 - nature.com
The triggering of innate immune mechanisms is emerging as a crucial component of major
neurodegenerative diseases. Microglia and other cell types in the brain can be activated in …

[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 …

[PDF][PDF] Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage

KR Smith, J Damiano, S Franceschetti… - The American Journal of …, 2012 - cell.com
We performed hypothesis-free linkage analysis and exome sequencing in a family with two
siblings who had neuronal ceroid lipofuscinosis (NCL). Two linkage peaks with maximum …

[HTML][HTML] The lysosomal function of progranulin, a guardian against neurodegeneration

DH Paushter, H Du, T Feng, F Hu - Acta neuropathologica, 2018 - Springer
Progranulin (PGRN), encoded by the GRN gene in humans, is a secreted growth factor
implicated in a multitude of processes ranging from regulation of inflammation to wound …

[HTML][HTML] Progranulin deficiency promotes neuroinflammation and neuron loss following toxin-induced injury

LH Martens, J Zhang, SJ Barmada… - The Journal of …, 2012 - Am Soc Clin Investig
Progranulin (PGRN) is a widely expressed secreted protein that is linked to inflammation. In
humans, PGRN haploinsufficiency is a major inherited cause of frontotemporal dementia …

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 …

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 …