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 …
significant socioeconomic burden due to difficulties in diagnosis and delay to diagnosis. FTD …
[HTML][HTML] Progranulin deficiency leads to reduced glucocerebrosidase activity
Mutation in the GRN gene, encoding the progranulin (PGRN) protein, shows a dose-
dependent disease correlation, wherein haploinsufficiency results in frontotemporal lobar …
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 …
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
Loss-of-function mutations in progranulin (GRN) are a major autosomal dominant cause of
frontotemporal dementia. Most pathogenic GRN mutations result in progranulin …
frontotemporal dementia. Most pathogenic GRN mutations result in progranulin …
[HTML][HTML] Impaired prosaposin lysosomal trafficking in frontotemporal lobar degeneration due to progranulin mutations
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 …
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
Homozygous mutations of granulin precursor (GRN) lead to neuronal ceroid lipofuscinosis,
a severe neurodevelopmental disease, in humans and neuroinflammation in mice …
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 …
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 …
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 …
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 …
characterized by cognitive and behavioral impairments. Heterozygous mutations in …