[HTML][HTML] Lysosome dysfunction as a cause of neurodegenerative diseases: Lessons from frontotemporal dementia and amyotrophic lateral sclerosis
Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are fatal
neurodegenerative disorders that are thought to exist on a clinical and pathological …
neurodegenerative disorders that are thought to exist on a clinical and pathological …
Neuroinflammation in frontotemporal dementia
Frontotemporal dementia (FTD) refers to a group of progressive neurodegenerative
disorders with different pathological signatures, genetic variability and complex disease …
disorders with different pathological signatures, genetic variability and complex disease …
Progranulin, lysosomal regulation and neurodegenerative disease
The discovery that heterozygous and homozygous mutations in the gene encoding
progranulin are causally linked to frontotemporal dementia and lysosomal storage disease …
progranulin are causally linked to frontotemporal dementia and lysosomal storage disease …
The lysosomal function of progranulin, a guardian against neurodegeneration
Progranulin (PGRN), encoded by the GRN gene in humans, is a secreted growth factor
implicated in a multitude of processes ranging from regulation of inflammation to wound …
implicated in a multitude of processes ranging from regulation of inflammation to wound …
Loss of TREM2 rescues hyperactivation of microglia, but not lysosomal deficits and neurotoxicity in models of progranulin deficiency
A Reifschneider, S Robinson, B van Lengerich… - The EMBO …, 2022 - embopress.org
Haploinsufficiency of the progranulin (PGRN)‐encoding gene (GRN) causes frontotemporal
lobar degeneration (GRN‐FTLD) and results in microglial hyperactivation, TREM2 …
lobar degeneration (GRN‐FTLD) and results in microglial hyperactivation, TREM2 …
Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis
Heterozygous mutations in the GRN gene lead to progranulin (PGRN) haploinsufficiency
and cause frontotemporal dementia (FTD), a neurodegenerative syndrome of older adults …
and cause frontotemporal dementia (FTD), a neurodegenerative syndrome of older adults …
[HTML][HTML] The classification of autosomal recessive cerebellar ataxias: a consensus statement from the society for research on the cerebellum and ataxias task force
M Beaudin, A Matilla-Dueñas, BW Soong, JL Pedroso… - The Cerebellum, 2019 - Springer
There is currently no accepted classification of autosomal recessive cerebellar ataxias, a
group of disorders characterized by important genetic heterogeneity and complex …
group of disorders characterized by important genetic heterogeneity and complex …
Progranulin gene therapy improves lysosomal dysfunction and microglial pathology associated with frontotemporal dementia and neuronal ceroid lipofuscinosis
AE Arrant, VC Onyilo, DE Unger… - Journal of …, 2018 - Soc Neuroscience
Loss-of-function mutations in progranulin, a lysosomal glycoprotein, cause
neurodegenerative disease. Progranulin haploinsufficiency causes frontotemporal dementia …
neurodegenerative disease. Progranulin haploinsufficiency causes frontotemporal dementia …
Progranulin: a new avenue towards the understanding and treatment of neurodegenerative disease
BP Chitramuthu, HPJ Bennett, A Bateman - Brain, 2017 - academic.oup.com
Progranulin, a secreted glycoprotein, is encoded in humans by the single GRN gene.
Progranulin consists of seven and a half, tandemly repeated, non-identical copies of the 12 …
Progranulin consists of seven and a half, tandemly repeated, non-identical copies of the 12 …
[HTML][HTML] Network analysis of the progranulin-deficient mouse brain proteome reveals pathogenic mechanisms shared in human frontotemporal dementia caused by …
Heterozygous, loss-of-function mutations in the granulin gene (GRN) encoding progranulin
(PGRN) are a common cause of frontotemporal dementia (FTD). Homozygous GRN …
(PGRN) are a common cause of frontotemporal dementia (FTD). Homozygous GRN …