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Direct evidence for axonal transport defects in a novel mouse model of mutant spastin‐induced hereditary spastic paraplegia (HSP) and human HSP patients
TLDR
Axonal transport is analysed in a novel mouse model of spastin‐induced HSP that involves a pathogenic splice site mutation, which leads to a loss of spasts protein, and results strongly support a direct role for defective axonal transport in the pathogenesis of HSP. Expand
Changes in the Amino Acid Content of Nerve Endings (Synaptosomes) Induced by Drugs that Alter the Metabolism of Glutamate and γ‐Aminobutyric Acid
Abstract: The study was centered on the changes in the amino acid content of nerve endings (synaptosomes) induced by drugs that alter the metabolism of glutamate or γ‐aminobutyric acid (GABA), andExpand
Expression of phagocyte NADPH oxidase components in human endothelial cells.
TLDR
Data indicate that cultured human endothelial cells express both mRNA and protein for cytosolic components of the phagocyte superoxide-generating NADPH oxidase, suggesting that a contribution of this enzyme to endothelial oxidant generation may be unlikely. Expand
Nuclear Accumulation of Truncated Atrophin-1 Fragments in a Transgenic Mouse Model of DRPLA
TLDR
It is concluded that the evolution of neuropathology in DRPLA involves proteolytic processing of mutant atrophin-1 and nuclear accumulation of truncated fragments. Expand
Protein aggregation in motor neurone disorders
TLDR
The experimental and human tissue‐based evidence for the involvement of such mechanisms in neuronal death associated with the motor system disorders of X‐linked spinobulbar muscular atrophy and amyotrophic lateral sclerosis is reviewed. Expand
The microtubule-severing protein Spastin is essential for axon outgrowth in the zebrafish embryo.
TLDR
A critical requirement for spastin to promote axonal outgrowth during embryonic development is revealed, and the zebrafish embryo is validated as a novel model system to dissect the pathogenetic mechanisms underlying HSP. Expand
Hereditary spastic paraparesis: Disrupted intracellular transport associated with spastin mutation
TLDR
Findings indicate that an abnormal interaction of mutant spastin with microtubules, which disrupts organelle transport on the microtubule cytoskeleton, is likely to be the primary disease mechanism in HSP caused by missense mutations in the spastsin gene. Expand
Disrupted-in-schizophrenia 1 and neuregulin 1 are required for the specification of oligodendrocytes and neurones in the zebrafish brain.
TLDR
The findings in the zebrafish embryo suggest that hitherto unappreciated neurodevelopmental connections may exist between key human schizophrenia susceptibility genes and like DISC1 and NRG1, OLIG2 and ERBB4 are promising candidate susceptibility genes for schizophrenia. Expand
β1-Adrenergic Receptor Association with the Synaptic Scaffolding Protein Membrane-associated Guanylate Kinase Inverted-2 (MAGI-2)
TLDR
MAGI-2 is a specificβ1AR binding partner that modulates β1AR function and facilitates the physical association of the β1 AR with intracellular proteins involved in signal transduction and synaptic regulation. Expand
Atrophin-1, the DRPLA Gene Product, Interacts with Two Families of WW Domain-Containing Proteins
TLDR
Five atrophin-1 interacting proteins (AIPs) which bind to atroph in the vicinity of the polyglutamine tract using the yeast two-hybrid system are identified, suggesting possible commonality of function between two proteins responsible for very similar diseases. Expand
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