Robert W. Burgess

The neuropathy-causing GARS1{triangleup}ETAQ mutation drives pathology in subsets of motor and sensory neurons in mice

This study shows that the Gars{Delta}ETAQ mutation in mice causes specific peripheral nerve pathology in motor and sensory neurons, affecting multiple functions and providing a model for CMT2D research.

A new mouse mutant with a discrete mutation in Pcdhgc5 reveals that the Protocadherin γC5 isoform is not essential for dendrite arborization in the cerebral cortex

The paper describes a mouse mutant lacking the Pcdhgc5 isoform, finding no major disruption in cerebral cortex development despite changes in synaptic-related pathways.

A mouse model of autosomal dominant spastic ataxia and myopathy caused by a mutation in Tuba4a

The paper describes a mouse model with a Tuba4a mutation causing spastic ataxia and myopathy, showing disease progression and specific neurological and muscular defects.

A C-terminal motif containing a PKC phosphorylation site regulates γ-Protocadherin-mediated dendrite arborization in the cerebral cortex in vivo

This study shows that phosphorylation of a shared C-terminal motif in γ-Protocadherin negatively regulates dendrite arborization in cortical neurons, with a C-terminal deletion causing the strongest phenotype.

Boosting BDNF in muscle rescues impaired axonal transport in a mouse model of DI-CMTC peripheral neuropathy

Testing SIPA1L2 as a modifier of CMT1A using mouse models

The paper tests SIPA1L2 as a modifier of CMT1A using mouse models and identifies some genetic interactions but finds a small overall effect on neuropathy.

Mouse models of NADK2 deficiency analyzed for metabolic and gene expression changes to elucidate pathophysiology

This study analyzes NADK2 deficiency in mouse models to identify metabolic and gene expression changes, revealing similarities and differences with another neurological disease model.

p53-mediated neurodegeneration in the absence of the nuclear protein Akirin2

This study shows that Akirin2 loss in excitatory cortical neurons leads to neurodegeneration via p53 activation, highlighting its role in neuronal maintenance and potential relevance to neurodegenerative diseases.

An allelic series of spontaneous mutations in Rorb cause a gait phenotype, retinal abnormalities, and transcriptomic changes relevant to human neurodevelopmental conditions

The paper describes five Rorb mutant mouse strains with gait and retinal abnormalities, showing transcriptomic changes linked to neurodevelopmental disorders.

Nicotinamide provides neuroprotection in glaucoma by protecting against mitochondrial and metabolic dysfunction

This study shows nicotinamide protects retinal ganglion cells from glaucoma-related damage by improving mitochondrial function and metabolism.

CRISPR/Cas9 interrogation of the mouse Pcdhg gene cluster reveals a crucial isoform-specific role for Pcdhgc4

The paper uses CRISPR/Cas9 to disrupt isoforms of the Pcdhg gene cluster in mice, finding that Pcdhgc4 is the only critical isoform for neuronal function.