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Frontotemporal lobar degeneration
Frontotemporal lobar degeneration (FTLD) is one of the most common causes of early-onset
dementia and presents with early social–emotional–behavioural and/or language changes …
dementia and presents with early social–emotional–behavioural and/or language changes …
[HTML][HTML] Phase separation and neurodegenerative diseases: a disturbance in the force
A Zbinden, M Pérez-Berlanga, P De Rossi… - Developmental cell, 2020 - cell.com
Protein aggregation is the main hallmark of neurodegenerative diseases. Many proteins
found in pathological inclusions are known to undergo liquid-liquid phase separation, a …
found in pathological inclusions are known to undergo liquid-liquid phase separation, a …
TDP-43 forms amyloid filaments with a distinct fold in type A FTLD-TDP
D Arseni, R Chen, AG Murzin, SY Peak-Chew… - Nature, 2023 - nature.com
The abnormal assembly of TAR DNA-binding protein 43 (TDP-43) in neuronal and glial cells
characterizes nearly all cases of amyotrophic lateral sclerosis (ALS) and around half of …
characterizes nearly all cases of amyotrophic lateral sclerosis (ALS) and around half of …
Large-scale proteomic analysis of Alzheimer's disease brain and cerebrospinal fluid reveals early changes in energy metabolism associated with microglia and …
Our understanding of Alzheimer's disease (AD) pathophysiology remains incomplete. Here
we used quantitative mass spectrometry and coexpression network analysis to conduct the …
we used quantitative mass spectrometry and coexpression network analysis to conduct the …
Limbic-predominant age-related TDP-43 encephalopathy (LATE): consensus working group report
We describe a recently recognized disease entity, limbic-predominant age-related TDP-43
encephalopathy (LATE). LATE neuropathological change (LATE-NC) is defined by a …
encephalopathy (LATE). LATE neuropathological change (LATE-NC) is defined by a …
Stress granules and neurodegeneration
Recent advances suggest that the response of RNA metabolism to stress has an important
role in the pathophysiology of neurodegenerative diseases, particularly amyotrophic lateral …
role in the pathophysiology of neurodegenerative diseases, particularly amyotrophic lateral …
Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies
Background Genome-wide association studies (GWAS) in Parkinson's disease have
increased the scope of biological knowledge about the disease over the past decade. We …
increased the scope of biological knowledge about the disease over the past decade. We …
ALS genetics: gains, losses, and implications for future therapies
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder caused by the loss
of motor neurons from the brain and spinal cord. The ALS community has made remarkable …
of motor neurons from the brain and spinal cord. The ALS community has made remarkable …
Rescue of a lysosomal storage disorder caused by Grn loss of function with a brain penetrant progranulin biologic
T Logan, MJ Simon, A Rana, GM Cherf, A Srivastava… - Cell, 2021 - cell.com
GRN mutations cause frontotemporal dementia (GRN-FTD) due to deficiency in progranulin
(PGRN), a lysosomal and secreted protein with unclear function. Here, we found that Grn …
(PGRN), a lysosomal and secreted protein with unclear function. Here, we found that Grn …
Progranulin as a therapeutic target in neurodegenerative diseases
Progranulin (PGRN, encoded by the GRN gene) plays a key role in the development,
survival, function, and maintenance of neurons and microglia in the mammalian brain. It …
survival, function, and maintenance of neurons and microglia in the mammalian brain. It …