Genetics of frontotemporal dementia
DA Olszewska, R Lonergan, EM Fallon… - Current neurology and …, 2016 - Springer
Frontotemporal dementia (FTD) is the second most common cause of dementia following
Alzheimer's disease (AD). Between 20 and 50% of cases are familial. Mutations in MAPT …
Alzheimer's disease (AD). Between 20 and 50% of cases are familial. Mutations in MAPT …
[HTML][HTML] The role of VCP mutations in the Spectrum of amyotrophic lateral sclerosis—frontotemporal dementia
E Scarian, G Fiamingo, L Diamanti, I Palmieri… - Frontiers in …, 2022 - frontiersin.org
Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD) are two
neurological diseases which, respectively, and primarily affect motor neurons and …
neurological diseases which, respectively, and primarily affect motor neurons and …
Progranulin deficiency results in sex-dependent alterations in microglia in response to demyelination
T Zhang, T Feng, K Wu, J Guo, AL Nana, G Yang… - Acta …, 2023 - Springer
Heterozygous mutations in the granulin (GRN) gene, resulting in the haploinsufficiency of
the progranulin (PGRN) protein, is a leading cause of frontotemporal lobar degeneration …
the progranulin (PGRN) protein, is a leading cause of frontotemporal lobar degeneration …
[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 …
Regulation of lysosomal trafficking of progranulin by sortilin and prosaposin
Haploinsufficiency of the progranulin protein is a leading cause of frontotemporal lobar
degeneration. Accumulating evidence support a crucial role of progranulin in the lysosome …
degeneration. Accumulating evidence support a crucial role of progranulin in the lysosome …
[HTML][HTML] Lysosomal processing of progranulin
X Zhou, DH Paushter, T Feng, L Sun… - Molecular …, 2017 - Springer
Background Mutations resulting in progranulin (PGRN) haploinsufficiency cause
frontotemporal lobar degeneration with TDP-43-positive inclusions (FTLD-TDP), a …
frontotemporal lobar degeneration with TDP-43-positive inclusions (FTLD-TDP), a …
[HTML][HTML] The genetics of monogenic frontotemporal dementia
LT Takada - Dementia & neuropsychologia, 2015 - SciELO Brasil
ABSTRACT Around 10-15% of patients diagnosed with frontotemporal dementia (FTD) have
a positive family history for FTD with an autosomal dominant pattern of inheritance. Since the …
a positive family history for FTD with an autosomal dominant pattern of inheritance. Since the …
A multifaceted role of progranulin in regulating amyloid-beta dynamics and responses
Haploinsufficiency of progranulin (PGRN) is a leading cause of frontotemporal lobar
degeneration (FTLD). PGRN polymorphisms are associated with Alzheimer's disease …
degeneration (FTLD). PGRN polymorphisms are associated with Alzheimer's disease …
Impact and risk factors of limbic predominant age-related TDP-43 Encephalopathy Neuropathologic Change in an Oldest-Old Cohort
SA Sajjadi, S Bukhari, KA Scambray, R Yan, C Kawas… - Neurology, 2023 - AAN Enterprises
Background and Objectives Limbic predominant age-related TAR DNA binding protein 43
(TDP-43) encephalopathy neuropathologic change (LATE-NC) is a prevalent degenerative …
(TDP-43) encephalopathy neuropathologic change (LATE-NC) is a prevalent degenerative …
Progranulin: functions and neurologic correlations
RA Townley, BF Boeve, EE Benarroch - Neurology, 2018 - AAN Enterprises
Progranulin is a highly conserved secreted protein that is expressed in multiple cell types,
both in the CNS and in peripheral tissues. Both directly and via its conversion to granulins …
both in the CNS and in peripheral tissues. Both directly and via its conversion to granulins …