User profiles for "author:Aaron D Gitler"
Aaron D. GitlerProfessor of Genetics, Stanford University Verified email at stanford.edu Cited by 27614 |
Stress granules as crucibles of ALS pathogenesis
Amyotrophic lateral sclerosis (ALS) is a fatal human neurodegenerative disease affecting
primarily motor neurons. Two RNA-binding proteins, TDP-43 and FUS, aggregate in the …
primarily motor neurons. Two RNA-binding proteins, TDP-43 and FUS, aggregate in the …
The tip of the iceberg: RNA-binding proteins with prion-like domains in neurodegenerative disease
Prions are self-templating protein conformers that are naturally transmitted between
individuals and promote phenotypic change. In yeast, prion-encoded phenotypes can be …
individuals and promote phenotypic change. In yeast, prion-encoded phenotypes can be …
Defects in trafficking bridge Parkinson's disease pathology and genetics
A Abeliovich, AD Gitler - Nature, 2016 - nature.com
Parkinson's disease is a debilitating, age-associated movement disorder. A central aspect of
the pathophysiology of Parkinson's disease is the progressive demise of midbrain dopamine …
the pathophysiology of Parkinson's disease is the progressive demise of midbrain dopamine …
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS
HJ Kim, NC Kim, YD Wang, EA Scarborough, J Moore… - Nature, 2013 - nature.com
Algorithms designed to identify canonical yeast prions predict that around 250 human
proteins, including several RNA-binding proteins associated with neurodegenerative …
proteins, including several RNA-binding proteins associated with neurodegenerative …
α-Synuclein blocks ER-Golgi traffic and Rab1 rescues neuron loss in Parkinson's models
Alpha-synuclein (αSyn) misfolding is associated with several devastating
neurodegenerative disorders, including Parkinson's disease (PD). In yeast cells and in …
neurodegenerative disorders, including Parkinson's disease (PD). In yeast cells and in …
Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS
The causes of amyotrophic lateral sclerosis (ALS), a devastating human neurodegenerative
disease, are poorly understood, although the protein TDP-43 has been suggested to have a …
disease, are poorly understood, although the protein TDP-43 has been suggested to have a …
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
Amyotrophic lateral sclerosis (ALS) is a devastating neurological disease with no effective
treatment. We report the results of a moderate-scale sequencing study aimed at increasing …
treatment. We report the results of a moderate-scale sequencing study aimed at increasing …
Neurotoxic reactive astrocytes induce cell death via saturated lipids
KA Guttenplan, MK Weigel, P Prakash… - Nature, 2021 - nature.com
Astrocytes regulate the response of the central nervous system to disease and injury and
have been hypothesized to actively kill neurons in neurodegenerative disease,,,,–. Here we …
have been hypothesized to actively kill neurons in neurodegenerative disease,,,,–. Here we …
[HTML][HTML] TDP-43 is intrinsically aggregation-prone, and amyotrophic lateral sclerosis-linked mutations accelerate aggregation and increase toxicity
BS Johnson, D Snead, JJ Lee, JM McCaffery… - Journal of Biological …, 2009 - ASBMB
Non-amyloid, ubiquitinated cytoplasmic inclusions containing TDP-43 and its C-terminal
fragments are pathological hallmarks of amyotrophic lateral sclerosis (ALS), a fatal motor …
fragments are pathological hallmarks of amyotrophic lateral sclerosis (ALS), a fatal motor …
[HTML][HTML] TDP-43 represses cryptic exon inclusion in the FTD–ALS gene UNC13A
A hallmark pathological feature of the neurodegenerative diseases amyotrophic lateral
sclerosis (ALS) and frontotemporal dementia (FTD) is the depletion of RNA-binding protein …
sclerosis (ALS) and frontotemporal dementia (FTD) is the depletion of RNA-binding protein …