Kevin McAvoy
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View article: CHCHD2 mutant mice link mitochondrial deficits to PD pathophysiology
CHCHD2 mutant mice link mitochondrial deficits to PD pathophysiology Open
Mitochondrial dysfunction is a hallmark of Parkinson’s disease (PD), but the mechanisms by which it drives autosomal dominant and idiopathic forms of PD remain unclear. To investigate this, we generated and performed a comprehensive phenot…
View article: Amyloid fibril structures link CHCHD10 and CHCHD2 to neurodegeneration
Amyloid fibril structures link CHCHD10 and CHCHD2 to neurodegeneration Open
Mitochondrial proteins CHCHD10 and CHCHD2 are mutated in rare cases of heritable FTD, ALS and PD and aggregate in tissues affected by these diseases. Here, we show that both proteins form amyloid fibrils and report cryo-EM structures of fi…
View article: CHCHD2 mutant mice display mitochondrial protein accumulation and disrupted energy metabolism
CHCHD2 mutant mice display mitochondrial protein accumulation and disrupted energy metabolism Open
Mutations in the mitochondrial cristae protein CHCHD2 lead to a late-onset autosomal dominant form of Parkinson’s disease (PD) which closely resembles idiopathic PD, providing the opportunity to gain new insights into the mechanisms of mit…
View article: Amyloid fibril structures link CHCHD10 and CHCHD2 to neurodegeneration
Amyloid fibril structures link CHCHD10 and CHCHD2 to neurodegeneration Open
CHCHD10 is mutated in rare cases of FTD and ALS and aggregates in mouse models of disease. Here we show that the disordered N-terminal domain of CHCHD10 forms amyloid fibrils and report their cryoEM structure. Disease-associated mutations …
View article: Targeting TNFα produced by astrocytes expressing amyotrophic lateral sclerosis‐linked mutant fused in sarcoma prevents neurodegeneration and motor dysfunction in mice
Targeting TNFα produced by astrocytes expressing amyotrophic lateral sclerosis‐linked mutant fused in sarcoma prevents neurodegeneration and motor dysfunction in mice Open
Genetic mutations that cause amyotrophic lateral sclerosis (ALS), a progressively lethal motor neuron disease, are commonly found in ubiquitously expressed genes. In addition to direct defects within motor neurons, growing evidence suggest…
View article: Astrocytic expression of ALS-causative mutant FUS leads to TNFα-dependent neurodegeneration <i>in vivo</i>
Astrocytic expression of ALS-causative mutant FUS leads to TNFα-dependent neurodegeneration <i>in vivo</i> Open
Genetic mutations that cause Amyotrophic Lateral Sclerosis (ALS), a progressively lethal motor neuron disease, are commonly found in ubiquitously expressed genes. In addition to direct defects within motor neurons, growing evidence suggest…
View article: Mouse midbrain dopaminergic neurons survive loss of the PD-associated mitochondrial protein CHCHD2
Mouse midbrain dopaminergic neurons survive loss of the PD-associated mitochondrial protein CHCHD2 Open
Mutations in the mitochondrial protein CHCHD2 cause autosomal-dominant PD characterized by the preferential loss of substantia nigra dopamine (DA) neurons. Therefore, understanding the function of CHCHD2 in neurons may provide vital insigh…
View article: Synaptic dysfunction induced by glycine‐alanine dipeptides in C9orf72‐ <scp>ALS</scp> / <scp>FTD</scp> is rescued by <scp>SV</scp> 2 replenishment
Synaptic dysfunction induced by glycine‐alanine dipeptides in C9orf72‐ <span>ALS</span> / <span>FTD</span> is rescued by <span>SV</span> 2 replenishment Open
The most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) is an intronic hexanucleotide repeat expansion in the C9orf72 gene. In disease, RNA transcripts containing this expanded region undergo repeat-a…
View article: Repeat‐associated non‐ <scp>AUG</scp> translation in C9orf72‐ <scp>ALS</scp> / <scp>FTD</scp> is driven by neuronal excitation and stress
Repeat‐associated non‐ <span>AUG</span> translation in C9orf72‐ <span>ALS</span> / <span>FTD</span> is driven by neuronal excitation and stress Open
Nucleotide repeat expansions (NREs) are prevalent mutations in a multitude of neurodegenerative diseases. Repeat-associated non-AUG (RAN) translation of these repeat regions produces mono or dipeptides that contribute to the pathogenesis o…
View article: Astrocytes expressing ALS‐linked mutant FUS induce motor neuron death through release of tumor necrosis factor‐alpha
Astrocytes expressing ALS‐linked mutant FUS induce motor neuron death through release of tumor necrosis factor‐alpha Open
Mutations in fused in sarcoma (FUS) are linked to amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease affecting both upper and lower motor neurons. While it is established that astrocytes contribute to the death of motor…
View article: Astrocytes drive upregulation of the multidrug resistance transporter ABCB1 (P‐Glycoprotein) in endothelial cells of the blood–brain barrier in mutant superoxide dismutase 1‐linked amyotrophic lateral sclerosis
Astrocytes drive upregulation of the multidrug resistance transporter ABCB1 (P‐Glycoprotein) in endothelial cells of the blood–brain barrier in mutant superoxide dismutase 1‐linked amyotrophic lateral sclerosis Open
The efficacy of drugs targeting the CNS is influenced by their limited brain access, which can lead to complete pharmacoresistance. Recently a tissue‐specific and selective upregulation of the multidrug efflux transporter ABCB1 or P‐glycop…