[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] Inflammation: the link between comorbidities, genetics, and Alzheimer's disease

EA Newcombe, J Camats-Perna, ML Silva… - Journal of …, 2018 - Springer
Alzheimer's disease (AD) is a neurodegenerative disorder, most cases of which lack a clear
causative event. This has made the disease difficult to characterize and, thus, diagnose …

[HTML][HTML] A review of Gaucher disease pathophysiology, clinical presentation and treatments

J Stirnemann, N Belmatoug, F Camou… - International journal of …, 2017 - mdpi.com
Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is
caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an …

Frontotemporal dementia

NT Olney, S Spina, BL Miller - Neurologic clinics, 2017 - neurologic.theclinics.com
Frontotemporal dementia (FTD) has undergone numerous changes in nomenclature and
categorization schemes since it was first described by Pick in 1892. Presently, FTD …

[HTML][HTML] Frontotemporal dementia, where do we stand? A narrative review

A Antonioni, EM Raho, P Lopriore, AP Pace… - International journal of …, 2023 - mdpi.com
Frontotemporal dementia (FTD) is a neurodegenerative disease of growing interest, since it
accounts for up to 10% of middle-age-onset dementias and entails a social, economic, and …

[HTML][HTML] Microglia and C9orf72 in neuroinflammation and ALS and frontotemporal dementia

D Lall, RH Baloh - The Journal of clinical investigation, 2017 - Am Soc Clin Investig
Amyotrophic lateral sclerosis (ALS) is a degenerative disorder that is characterized by loss
of motor neurons and shows clinical, pathological, and genetic overlap with frontotemporal …

[HTML][HTML] Microglia and astrocyte involvement in neurodegeneration and brain cancer

AA Vandenbark, H Offner, S Matejuk… - Journal of …, 2021 - Springer
The brain is unique and the most complex organ of the body, containing neurons and
several types of glial cells of different origins and properties that protect and ensure normal …

[HTML][HTML] Loss of TMEM106B ameliorates lysosomal and frontotemporal dementia-related phenotypes in progranulin-deficient mice

ZA Klein, H Takahashi, M Ma, M Stagi, M Zhou… - Neuron, 2017 - cell.com
Summary Progranulin (GRN) and TMEM106B are associated with several common
neurodegenerative disorders including frontotemporal lobar degeneration (FTLD). A …

Genetics of FTLD: overview and what else we can expect from genetic studies

C Pottier, TA Ravenscroft… - Journal of …, 2016 - Wiley Online Library
Frontotemporal lobar degeneration (FTLD) comprises a highly heterogeneous group of
disorders clinically associated with behavioral and personality changes, language …

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 …