[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 …

[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 …

[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 …

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 …

Nonsense-mediated mRNA decay in neuronal physiology and neurodegeneration

MP Howe, R Patani - Trends in Neurosciences, 2023 - cell.com
The processes of mRNA export from the nucleus and subsequent mRNA translation in the
cytoplasm are of particular relevance in eukaryotic cells. In highly polarised cells such as …

Progranulin regulates lysosomal function and biogenesis through acidification of lysosomes

Y Tanaka, G Suzuki, T Matsuwaki… - Human molecular …, 2017 - academic.oup.com
Progranulin (PGRN) haploinsufficiency resulting from loss-of-function mutations in the
PGRN gene causes frontotemporal lobar degeneration accompanied by TDP-43 …

[HTML][HTML] Cell biology of the NCL proteins: what they do and don't do

J Cárcel-Trullols, AD Kovács, DA Pearce - Biochimica et Biophysica Acta …, 2015 - Elsevier
The fatal, primarily childhood neurodegenerative disorders, neuronal ceroid lipofuscinoses
(NCLs), are currently associated with mutations in 13 genes. The protein products of these …

Progranulin gene therapy improves lysosomal dysfunction and microglial pathology associated with frontotemporal dementia and neuronal ceroid lipofuscinosis

AE Arrant, VC Onyilo, DE Unger… - Journal of …, 2018 - Soc Neuroscience
Loss-of-function mutations in progranulin, a lysosomal glycoprotein, cause
neurodegenerative disease. Progranulin haploinsufficiency causes frontotemporal dementia …

Genetics of FTLD: overview and what else we can expect from genetic studies

C Pottier, TA Ravenscroft… - Journal of …, 2016 - Wiley Online Library
Frontotemporal lobar degeneration (FTLD) comprises a highly heterogeneous group of
disorders clinically associated with behavioral and personality changes, language …