[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 …

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 …

[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 …

Deficiency of the frontotemporal dementia gene GRN results in gangliosidosis

S Boland, S Swarup, YA Ambaw, PC Malia… - Nature …, 2022 - nature.com
Haploinsufficiency of GRN causes frontotemporal dementia (FTD). The GRN locus produces
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 …

Network analysis of the progranulin-deficient mouse brain proteome reveals pathogenic mechanisms shared in human frontotemporal dementia caused by GRN …

M Huang, E Modeste, E Dammer, P Merino… - Acta neuropathologica …, 2020 - Springer
Heterozygous, loss-of-function mutations in the granulin gene (GRN) encoding progranulin
(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 …

A comprehensive review of protein misfolding disorders, underlying mechanism, clinical diagnosis, and therapeutic strategies

S Basha, DC Mukunda, J Rodrigues… - Ageing Research …, 2023 - Elsevier
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 …

[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 …

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 …