Genetics and pathogenesis of Parkinson's syndrome
Parkinson's disease (PD) is clinically, pathologically, and genetically heterogeneous,
resisting distillation to a single, cohesive disorder. Instead, each affected individual develops …
resisting distillation to a single, cohesive disorder. Instead, each affected individual develops …
Parkinson's disease genetics and pathophysiology
GE Vázquez-Vélez, HY Zoghbi - Annual review of neuroscience, 2021 - annualreviews.org
Parkinson's disease (PD) is a common neurodegenerative disorder characterized by
degeneration of the substantia nigra pars compacta and by accumulation of α-synuclein in …
degeneration of the substantia nigra pars compacta and by accumulation of α-synuclein in …
Spliceosome-targeted therapies trigger an antiviral immune response in triple-negative breast cancer
Many oncogenic insults deregulate RNA splicing, often leading to hypersensitivity of tumors
to spliceosome-targeted therapies (STTs). However, the mechanisms by which STTs …
to spliceosome-targeted therapies (STTs). However, the mechanisms by which STTs …
CRISPR-based functional genomics for neurological disease
M Kampmann - Nature Reviews Neurology, 2020 - nature.com
Neurodegenerative, neurodevelopmental and neuropsychiatric disorders are among the
greatest public health challenges, as many lack disease-modifying treatments. A major …
greatest public health challenges, as many lack disease-modifying treatments. A major …
TYK2 regulates tau levels, phosphorylation and aggregation in a tauopathy mouse model
J Kim, B Tadros, YH Liang, Y Kim… - Nature …, 2024 - nature.com
Alzheimer's disease is one of at least 26 diseases characterized by tau-positive
accumulation in neurons, glia or both. However, it is still unclear what modifications cause …
accumulation in neurons, glia or both. However, it is still unclear what modifications cause …
[HTML][HTML] Evolutionarily conserved regulators of tau identify targets for new therapies
J Kim, M de Haro, I Al-Ramahi, LL Garaicoechea… - Neuron, 2023 - cell.com
Tauopathies are neurodegenerative diseases that involve the pathological accumulation of
tau proteins; in this family are Alzheimer disease, corticobasal degeneration, and chronic …
tau proteins; in this family are Alzheimer disease, corticobasal degeneration, and chronic …
Sequential CRISPR screening reveals partial NatB inhibition as a strategy to mitigate alpha-synuclein levels in human neurons
S Santhosh Kumar, NN Naseri, SR Pather… - Science …, 2024 - science.org
Alpha-synuclein (αSyn) protein levels correlate with the risk and severity of Parkinson's
disease and related neurodegenerative diseases. Lowering αSyn is being actively …
disease and related neurodegenerative diseases. Lowering αSyn is being actively …
Large-Scale Transgenic Drosophila Resource Collections for Loss- and Gain-of-Function Studies
Abstract The Transgenic RNAi Project (TRiP), a Drosophila melanogaster functional
genomics platform at Harvard Medical School, was initiated in 2008 to generate and …
genomics platform at Harvard Medical School, was initiated in 2008 to generate and …
Sphingolipids in neurodegenerative diseases
Neurodegenerative Diseases (NDDs) are a group of disorders that cause progressive
deficits of neuronal function. Recent evidence argues that sphingolipid metabolism is …
deficits of neuronal function. Recent evidence argues that sphingolipid metabolism is …
Genome-wide CRISPR screen reveals v-ATPase as a drug target to lower levels of ALS protein ataxin-2
Mutations in the ataxin-2 gene (ATXN2) cause the neurodegenerative disorders
amyotrophic lateral sclerosis (ALS) and spinocerebellar ataxia type 2 (SCA2). A therapeutic …
amyotrophic lateral sclerosis (ALS) and spinocerebellar ataxia type 2 (SCA2). A therapeutic …