[HTML][HTML] Genetic variants in progranulin upstream open reading frames increase downstream protein expression
A Frydas, R Cacace, J van der Zee… - Neurobiology of …, 2022 - Elsevier
… Frontotemporal lobar degeneration (FTLD) refers to a group of neurodegenerative disorders
… Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to …
… Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to …
The biochemical basis for genetically-inherited Frontotemporal Dementia with TDP-43 pathology.
OC Marian - 2024 - ses.library.usyd.edu.au
… neurodegeneration in FTD caused by GRN mutations (FTD-… caused by GRN and C9orf72
mutations in post-mortem tissue from heavily affected frontal lobe and less affected parietal lobe…
mutations in post-mortem tissue from heavily affected frontal lobe and less affected parietal lobe…
Frontotemporal lobar degeneration with TAR DNA-binding protein 43 (TDP-43): its journey of more than 100 years
AF Carlos, KA Josephs - Journal of neurology, 2022 - Springer
… Frontotemporal lobar degeneration (FTLD) with TDP-43-immunoreactive inclusions (FTLD–…
specific clinical syndromes and genetic mutations which implies different pathomechanisms …
specific clinical syndromes and genetic mutations which implies different pathomechanisms …
Overexpression of progranulin increases pathological protein accumulation by suppressing autophagic flux
… Progranulin (PGRN) haploinsufficiency from autosomal dominant mutations in the PGRN
gene causes frontotemporal lobar degeneration, which is characterized by cytoplasmic …
gene causes frontotemporal lobar degeneration, which is characterized by cytoplasmic …
[HTML][HTML] The advance on frontotemporal dementia (FTD)'s neuropathology and molecular genetics
J Wang, B Wang, T Zhou - Mediators of Inflammation, 2022 - hindawi.com
… dominant mutations in three genes accounting for the majority of inheritance: progranulin
(… no detectable insoluble tau or tau or ubiquitin positive inclusion bodies detected, are most …
(… no detectable insoluble tau or tau or ubiquitin positive inclusion bodies detected, are most …
Major or Mild Frontotemporal Neurocognitive Disorder
JA Bourgeois, A Hategan, CH Hirsch… - Geriatric Psychiatry: A …, 2024 - Springer
… and progranulin mutations have been associated with behavioral variant as the most
common clinical phenotype, although progranulin mutations … Ubiquitin-positive and tau-negative …
common clinical phenotype, although progranulin mutations … Ubiquitin-positive and tau-negative …
[PDF][PDF] Microglial lysosome dysfunction contributes to white matter pathology and TDP-43 proteinopathy in GRN-associated FTD
… mutations in the progranulin gene (GRN), which encodes progranulin (PGRN), are a major
cause of frontotemporal … these inclusions were ubiquitin positive (Figure 4C). Although there …
cause of frontotemporal … these inclusions were ubiquitin positive (Figure 4C). Although there …
The progranulin cleavage product granulin 3 exerts a dominant negative effect on animal fitness
AL Wang, EA Mambou, AW Kao - Human Molecular Genetics, 2024 - academic.oup.com
… Encoded by the granulin (GRN, Pgrn) gene in humans, progranulin is widely expressed in
… Pgrn gene mutations resulting in progranulin haploinsufficiency are a common cause of the …
… Pgrn gene mutations resulting in progranulin haploinsufficiency are a common cause of the …
… Cell Lines and Extracellular Vesicles from Patients Affected by Frontotemporal Lobar Degeneration and Neuronal Ceroidolipofuscinosis Carrying a GRN Mutation
S Cimini, S Bellini, C Saraceno, L Benussi… - International Journal of …, 2022 - mdpi.com
… Frontotemporal lobar degeneration (FTLD) is a complex disease, characterized by progressive
degeneration of frontal and temporal lobes. Mutations in progranulin (GRN) gene have …
degeneration of frontal and temporal lobes. Mutations in progranulin (GRN) gene have …
[HTML][HTML] GRN−/− iPSC-derived cortical neurons recapitulate the pathological findings of both frontotemporal lobar degeneration and neuronal ceroidolipofuscinosis
P Bossolasco, S Cimini, E Maderna, D Bardelli… - Neurobiology of …, 2022 - Elsevier
… Heterozygous mutations in the gene coding for progranulin (GRN) cause frontotemporal
lobar degeneration (FTLD) while homozygous mutations are linked to neuronal …
lobar degeneration (FTLD) while homozygous mutations are linked to neuronal …