Karen Burr

Absence of short-term axon initial segment plasticity in human, mouse, and rat cortical circuits

The paper tests for axon initial segment (AIS) structural plasticity in human, mouse, and rat cortical neurons across different conditions and finds no evidence of AIS length changes over short-term activity modulation.

Astrocytes control motor neuronal mitochondrial axonal transport deficits in C9ORF72 ALS.

This study shows that C9ORF72-mutant astrocytes disrupt axonal transport in motor neurons, and correcting this rescues transport deficits.

The Fragile X Messenger Ribonucleoprotein 1 regulates the morphology and maturation of human and rat oligodendrocytes

This study investigates the role of FMRP in oligodendrocyte maturation and myelination in human and rat models, finding shared defects in morphology and function.

Human induced pluripotent stem cell-derived microglia contribute to thepathophysiology of Fragile X syndrome via increased RAC1 signaling

This study shows that FMRP loss in microglia increases RAC1 signaling, leading to inflammation and neuronal hyperexcitability in FXS, which can be mitigated by RAC1 inhibition.

Cell-autonomous immune dysfunction driven by disrupted autophagy in C9orf72-ALS iPSC-derived microglia contributes to neurodegeneration

This study shows that C9orf72 mutations disrupt autophagy in microglia, leading to immune dysfunction and increased motor neuron death in ALS/FTD.

Reducing voltage-dependent potassium channel Kv3.4 levels ameliorates synapse loss in a mouse model of Alzheimers disease

This study shows reducing Kv3.4 levels in a mouse model of Alzheimer's disease reduces synapse loss and changes in spine morphology.

The ciliary gene INPP5E confers dorsal telencephalic identity to human cortical organoids by negatively regulating Sonic Hedgehog signalling

This study shows that INPP5E negatively regulates Sonic Hedgehog signaling in human cortical organoids, promoting dorsal telencephalic identity and preventing ventralization.

Familial t(1;11) translocation is associated with disruption of white matter structural integrity and oligodendrocyte-myelin dysfunction

The paper investigates the impact of a t(1;11) translocation on white matter integrity and oligodendrocyte-myelin function using DTI and cellular models.

DISC1 regulates N-Methyl-D-Aspartate receptor dynamics: Abnormalities induced by a Disc1 mutation modelling a translocation linked to major mental illness

This study shows that a DISC1 mutation linked to mental illness disrupts NMDAR dynamics and synaptic function in neurons, affecting excitatory synapses and vesicle dynamics.