Reduction of Sphingomyelinases Associated With Progranulin Deficiency and Frontotemporal Dementia

NR Boyle - 2023 - search.proquest.com
Frontotemporal dementia (FTD) is a leading cause of early-onset dementia and has a
significant socioeconomic burden due to difficulties in diagnosis and delay to diagnosis. FTD …

[HTML][HTML] Progranulin deficiency leads to reduced glucocerebrosidase activity

X Zhou, DH Paushter, MD Pagan, D Kim… - PLoS …, 2019 - journals.plos.org
Mutation in the GRN gene, encoding the progranulin (PGRN) protein, shows a dose-
dependent disease correlation, wherein haploinsufficiency results in frontotemporal lobar …

[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] Impaired β-glucocerebrosidase activity and processing in frontotemporal dementia due to progranulin mutations

AE Arrant, JR Roth, NR Boyle, SN Kashyap… - Acta neuropathologica …, 2019 - Springer
Loss-of-function mutations in progranulin (GRN) are a major autosomal dominant cause of
frontotemporal dementia. Most pathogenic GRN mutations result in progranulin …

[HTML][HTML] Impaired prosaposin lysosomal trafficking in frontotemporal lobar degeneration due to progranulin mutations

X Zhou, L Sun, O Bracko, JW Choi, Y Jia… - Nature …, 2017 - nature.com
Haploinsufficiency of progranulin (PGRN) due to mutations in the granulin (GRN) gene
causes frontotemporal lobar degeneration (FTLD), and complete loss of PGRN leads to a …

Progranulin deficiency results in reduced bis (monoacylglycero) phosphate (BMP) levels and gangliosidosis

S Boland, S Swarup, YA Ambaw, RC Richards… - bioRxiv, 2021 - biorxiv.org
Homozygous mutations of granulin precursor (GRN) lead to neuronal ceroid lipofuscinosis,
a severe neurodevelopmental disease, in humans and neuroinflammation in mice …

Progranulin mutations result in impaired processing of prosaposin and reduced glucocerebrosidase activity

C Valdez, D Ysselstein, TJ Young… - Human molecular …, 2020 - academic.oup.com
Frontotemporal dementia (FTD) is a common neurogenerative disorder characterized by
progressive degeneration in the frontal and temporal lobes. Heterozygous mutations in the …

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 …

Loss of Progranulin Results in Increased Pan‐Cathepsin Expression

A Anderson, DA Gillett, J Boles… - Alzheimer's & …, 2023 - Wiley Online Library
Background Mutations in the progranulin (PGRN) encoding gene, GRN, cause familial
frontotemporal dementia (FTD) and neuronal ceroid lipofuscinosis and is also implicated in …

Progranulin-mediated deficiency of cathepsin D results in FTD and NCL-like phenotypes in neurons derived from FTD patients

C Valdez, YC Wong, M Schwake, G Bu… - Human molecular …, 2017 - academic.oup.com
Frontotemporal dementia (FTD) encompasses a group of neurodegenerative disorders
characterized by cognitive and behavioral impairments. Heterozygous mutations in …