[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 …
Nonsense-mediated mRNA decay in neuronal physiology and neurodegeneration
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 …
cytoplasm are of particular relevance in eukaryotic cells. In highly polarised cells such as …
[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 …
Deficiency of the frontotemporal dementia gene GRN results in gangliosidosis
Haploinsufficiency of GRN causes frontotemporal dementia (FTD). The GRN locus produces
progranulin (PGRN), which is cleaved to lysosomal granulin polypeptides. The function of …
progranulin (PGRN), which is cleaved to lysosomal granulin polypeptides. The function of …
Neurotoxic microglia promote TDP-43 proteinopathy in progranulin deficiency
J Zhang, D Velmeshev, K Hashimoto, YH Huang… - Nature, 2020 - nature.com
Aberrant aggregation of the RNA-binding protein TDP-43 in neurons is a hallmark of
frontotemporal lobar degeneration caused by haploinsufficiency in the gene encoding …
frontotemporal lobar degeneration caused by haploinsufficiency in the gene encoding …
Network analysis of the progranulin-deficient mouse brain proteome reveals pathogenic mechanisms shared in human frontotemporal dementia caused by GRN …
Heterozygous, loss-of-function mutations in the granulin gene (GRN) encoding progranulin
(PGRN) are a common cause of frontotemporal dementia (FTD). Homozygous GRN …
(PGRN) are a common cause of frontotemporal dementia (FTD). Homozygous GRN …
Astroglial toxicity promotes synaptic degeneration in the thalamocortical circuit in frontotemporal dementia with GRN mutations
E Marsan, D Velmeshev, A Ramsey… - The Journal of …, 2023 - Am Soc Clin Investig
Mutations in the human progranulin (GRN) gene are a leading cause of frontotemporal lobar
degeneration (FTLD). While previous studies implicate aberrant microglial activation as a …
degeneration (FTLD). While previous studies implicate aberrant microglial activation as a …
A comprehensive review of protein misfolding disorders, underlying mechanism, clinical diagnosis, and therapeutic strategies
Introduction The most prevalent biological macromolecules in living systems are proteins,
the building block of life, extremely dynamic in structure and functions. Due to several …
the building block of life, extremely dynamic in structure and functions. Due to several …
[HTML][HTML] Clinical application of intrathecal gadobutrol for assessment of cerebrospinal fluid tracer clearance to blood
PK Eide, E Mariussen, H Uggerud, AH Pripp… - JCI insight, 2021 - ncbi.nlm.nih.gov
BACKGROUND Methodology for estimation of cerebrospinal fluid (CSF) tracer clearance
could have wide clinical application in predicting excretion of intrathecal drugs and …
could have wide clinical application in predicting excretion of intrathecal drugs and …
Tweaking progranulin expression: therapeutic avenues and opportunities
J Terryn, CM Verfaillie, P Van Damme - Frontiers in Molecular …, 2021 - frontiersin.org
Frontotemporal dementia (FTD) is a neurodegenerative disease, leading to behavioral
changes and language difficulties. Heterozygous loss-of-function mutations in progranulin …
changes and language difficulties. Heterozygous loss-of-function mutations in progranulin …