[HTML][HTML] Lysosomal functions of progranulin and implications for treatment of frontotemporal dementia
MJ Simon, T Logan, SL DeVos, G Di Paolo - Trends in Cell Biology, 2023 - cell.com
Loss-of-function heterozygous mutations in GRN, the gene encoding progranulin (PGRN),
were identified in patients with frontotemporal lobar degeneration (FTLD) almost two …
were identified in patients with frontotemporal lobar degeneration (FTLD) almost two …
[HTML][HTML] Lysosome dysfunction as a cause of neurodegenerative diseases: Lessons from frontotemporal dementia and amyotrophic lateral sclerosis
Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are fatal
neurodegenerative disorders that are thought to exist on a clinical and pathological …
neurodegenerative disorders that are thought to exist on a clinical and pathological …
[HTML][HTML] Rescue of a lysosomal storage disorder caused by Grn loss of function with a brain penetrant progranulin biologic
T Logan, MJ Simon, A Rana, GM Cherf, A Srivastava… - Cell, 2021 - cell.com
GRN mutations cause frontotemporal dementia (GRN-FTD) due to deficiency in progranulin
(PGRN), a lysosomal and secreted protein with unclear function. Here, we found that Grn …
(PGRN), a lysosomal and secreted protein with unclear function. Here, we found that Grn …
Mechanisms of autophagy–lysosome dysfunction in neurodegenerative diseases
RA Nixon, DC Rubinsztein - Nature Reviews Molecular Cell Biology, 2024 - nature.com
Autophagy is a lysosome-based degradative process used to recycle obsolete cellular
constituents and eliminate damaged organelles and aggregate-prone proteins. Their …
constituents and eliminate damaged organelles and aggregate-prone proteins. Their …
Loss of TREM2 rescues hyperactivation of microglia, but not lysosomal deficits and neurotoxicity in models of progranulin deficiency
A Reifschneider, S Robinson, B van Lengerich… - The EMBO …, 2022 - embopress.org
Haploinsufficiency of the progranulin (PGRN)‐encoding gene (GRN) causes frontotemporal
lobar degeneration (GRN‐FTLD) and results in microglial hyperactivation, TREM2 …
lobar degeneration (GRN‐FTLD) and results in microglial hyperactivation, TREM2 …
TDP-43 pathology: from noxious assembly to therapeutic removal
Our understanding of amyotrophic lateral sclerosis and frontotemporal dementia has
advanced dramatically since the discovery of cytoplasmic TAR DNA-binding protein 43 (TDP …
advanced dramatically since the discovery of cytoplasmic TAR DNA-binding protein 43 (TDP …
Physiological and pathological functions of TMEM106B: a gene associated with brain aging and multiple brain disorders
T Feng, A Lacrampe, F Hu - Acta neuropathologica, 2021 - Springer
TMEM106B, encoding a lysosome membrane protein, has been recently associated with
brain aging, hypomyelinating leukodystrophy and multiple neurodegenerative diseases …
brain aging, hypomyelinating leukodystrophy and multiple neurodegenerative diseases …
TMEM106B aggregation in neurodegenerative diseases: linking genetics to function
HS Jiao, P Yuan, JT Yu - Molecular Neurodegeneration, 2023 - Springer
Background Mutations of the gene TMEM106B are risk factors for diverse
neurodegenerative diseases. Previous understanding of the underlying mechanism focused …
neurodegenerative diseases. Previous understanding of the underlying mechanism focused …
Identification of TMEM106B amyloid fibrils provides an updated view of TMEM106B biology in health and disease
J Perneel, R Rademakers - Acta Neuropathologica, 2022 - Springer
Since the initial identification of TMEM106B as a risk factor for frontotemporal lobar
degeneration (FTLD), multiple genetic studies have found TMEM106B variants to modulate …
degeneration (FTLD), multiple genetic studies have found TMEM106B variants to modulate …
The major TMEM106B dementia risk allele affects TMEM106B protein levels, fibril formation, and myelin lipid homeostasis in the ageing human hippocampus
Background The risk for dementia increases exponentially from the seventh decade of life.
Identifying and understanding the biochemical changes that sensitize the ageing brain to …
Identifying and understanding the biochemical changes that sensitize the ageing brain to …