Frontotemporal lobar degeneration

M Grossman, WW Seeley, AL Boxer, AE Hillis… - Nature Reviews …, 2023 - nature.com
Frontotemporal lobar degeneration (FTLD) is one of the most common causes of early-onset
dementia and presents with early social–emotional–behavioural and/or language changes …

Microglial efferocytosis: diving into the Alzheimer's disease gene pool

C Romero-Molina, F Garretti, SJ Andrews, E Marcora… - Neuron, 2022 - cell.com
Genome-wide association studies and functional genomics studies have linked specific cell
types, genes, and pathways to Alzheimer's disease (AD) risk. In particular, AD risk alleles …

[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 …

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 …

Neuronal ceroid lipofuscinosis: potential for targeted therapy

N Specchio, A Ferretti, M Trivisano, N Pietrafusa… - Drugs, 2021 - Springer
Neuronal ceroid lipofuscinosis (NCLs) is a group of inherited neurodegenerative lysosomal
storage diseases that together represent the most common cause of dementia in children …

CNS-wide repopulation by hematopoietic-derived microglia-like cells corrects progranulin deficiency in mice

P Colella, R Sayana, MV Suarez-Nieto, J Sarno… - Nature …, 2024 - nature.com
Hematopoietic stem cell transplantation can deliver therapeutic proteins to the central
nervous system (CNS) through transplant-derived microglia-like cells. However, current …

Neuronal VCP loss of function recapitulates FTLD-TDP pathology

A Wani, J Zhu, JD Ulrich, A Eteleeb, AD Sauerbeck… - Cell reports, 2021 - cell.com
The pathogenic mechanism by which dominant mutations in VCP cause multisystem
proteinopathy (MSP), a rare neurodegenerative disease that presents as fronto-temporal …

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 …

New developments of biofluid‐based biomarkers for routine diagnosis and disease trajectories in frontotemporal dementia

M Del Campo, H Zetterberg, S Gandy… - Alzheimer's & …, 2022 - Wiley Online Library
Frontotemporal dementia (FTD) covers a spectrum of neurodegenerative disorders with
different phenotypes, genetic backgrounds, and pathological states. Its clinicopathological …

[HTML][HTML] Preclinical interventions in mouse models of frontotemporal dementia due to progranulin mutations

SN Kashyap, NR Boyle, ED Roberson - Neurotherapeutics, 2023 - Elsevier
Heterozygous loss-of-function mutations in progranulin (GRN) cause frontotemporal
dementia (FTD), a leading cause of early-onset dementia characterized clinically by …