BDNF insufficiency exacerbates ALS progression.
📄 Abstract
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with progressive loss of motor neurons. Insufficiency of neurotrophic factors is suspected to underlie the disease, but direct evidence remains scarce. In this study, we discover that brain-derived neurotrophic factor (BDNF) val/met mutation, which results in a decrease in BDNF secretion, reduces survival time of ALS patients in two separate cohorts. Using a knockin mouse model of the ALS causal gene FUS
Confidence:
0.13
· 5 полей извлечено
Идентификация (6 полей)
Target
BDNF
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Alt. target
brain-derived neurotrophic factor
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Protein family
neurotrophic factor
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Functional class
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Subcellular loc.
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Isoforms (metab/obesity)
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Механизм действия (21 полей)
Mechanism
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Mutations (obesity/lean)
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Activity (obesity)
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Activity temporal
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Energy balance
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Appetite
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Fat metabolism
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Lipolysis
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Thermogenesis
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Muscle metabolism
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Inflammation
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Glucose metabolism
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AA metabolism
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Hormonal pathways
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Cell death
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Adipocyte fibrosis
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Upstream (biochem)
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Upstream (physiol)
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Downstream (biochem)
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Downstream (physiol)
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PTMs
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Экспрессия (8 полей)
Tissue expression
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In vitro
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In vivo
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In silico
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Genetic association
BDNF val/met mutation associated with reduced survival in ALS patients in two cohorts
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Ex vivo
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Animal model
knockin mouse model of FUS
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Diet/model
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