Matthew C. Judson
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View article: Neuronal UBE3A substrates hold therapeutic potential for Angelman syndrome
Neuronal UBE3A substrates hold therapeutic potential for Angelman syndrome Open
View article: Subcellular organization of UBE3A in neurons
Subcellular organization of UBE3A in neurons Open
Ubiquitination regulates a broad array of cellular processes, and defective ubiquitination is implicated in several neurological disorders. Loss of the E3 ubiquitin-protein ligase UBE3A causes Angelman syndrome. Despite its clinical import…
View article: Molecular and behavioral consequences of Ube3a gene overdosage in mice
Molecular and behavioral consequences of Ube3a gene overdosage in mice Open
Chromosome 15q11.2-q13.1 duplication syndrome (Dup15q syndrome) is a severe neurodevelopmental disorder characterized by intellectual disability, impaired motor coordination, and autism spectrum disorder. Chromosomal multiplication of the …
View article: Dual-isoform hUBE3A gene transfer improves behavioral and seizure outcomes in Angelman syndrome model mice
Dual-isoform hUBE3A gene transfer improves behavioral and seizure outcomes in Angelman syndrome model mice Open
Loss of the maternal UBE3A allele causes Angelman syndrome (AS), a debilitating neurodevelopmental disorder. Here, we devised an AS treatment strategy based on reinstating dual-isoform expression of human UBE3A (hUBE3A) in the developing b…
View article: Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes
Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes Open
Angelman syndrome (AS) is a severe genetic disorder caused by mutations or deletions of the maternally inherited UBE3A gene. UBE3A encodes an E3 ubiquitin ligase that is expressed biallelically in most tissues but is maternally expressed i…
View article: Allelic Specificity of Ube3a Expression in the Mouse Brain during Postnatal Development
Allelic Specificity of Ube3a Expression in the Mouse Brain during Postnatal Development Open
Genetic alterations of the maternal UBE3A allele result in Angelman syndrome (AS), a neurodevelopmental disorder characterized by severe developmental delay, lack of speech, and difficulty with movement and balance. The combined effects of…
View article: Dissociation of locomotor and cerebellar deficits in a murine Angelman syndrome model
Dissociation of locomotor and cerebellar deficits in a murine Angelman syndrome model Open
Angelman syndrome (AS) is a severe neurological disorder that is associated with prominent movement and balance impairments that are widely considered to be due to defects of cerebellar origin. Here, using the cerebellar-specific vestibulo…
View article: A new synaptic player leading to autism risk: Met receptor tyrosine kinase
A new synaptic player leading to autism risk: Met receptor tyrosine kinase Open
The validity for assigning disorder risk to an autism spectrum disorder (ASD) candidate gene comes from convergent genetic, clinical, and developmental neurobiology data. Here, we review these lines of evidence from multiple human genetic …
View article: Decreased Axon Caliber Underlies Loss of Fiber Tract Integrity, Disproportional Reductions in White Matter Volume, and Microcephaly in Angelman Syndrome Model Mice
Decreased Axon Caliber Underlies Loss of Fiber Tract Integrity, Disproportional Reductions in White Matter Volume, and Microcephaly in Angelman Syndrome Model Mice Open
Angelman syndrome (AS) is a debilitating neurodevelopmental disorder caused by loss of function of the maternally inherited UBE3A allele. It is currently unclear how the consequences of this genetic insult unfold to impair neurodevelopment…
View article: GABAergic Neuron-Specific Loss of Ube3a Causes Angelman Syndrome-Like EEG Abnormalities and Enhances Seizure Susceptibility
GABAergic Neuron-Specific Loss of Ube3a Causes Angelman Syndrome-Like EEG Abnormalities and Enhances Seizure Susceptibility Open
Loss of maternal UBE3A causes Angelman syndrome (AS), a neurodevelopmental disorder associated with severe epilepsy. We previously implicated GABAergic deficits onto layer (L) 2/3 pyramidal neurons in the pathogenesis of neocortical hypere…
View article: Loss of UBE3A from TH-expressing neurons suppresses GABA co-release and enhances VTA-NAc optical self-stimulation
Loss of UBE3A from TH-expressing neurons suppresses GABA co-release and enhances VTA-NAc optical self-stimulation Open
Motivated reward-seeking behaviours are governed by dopaminergic ventral tegmental area projections to the nucleus accumbens. In addition to dopamine, these mesoaccumbal terminals co-release other neurotransmitters including glutamate and …
View article: Subcellular organization of UBE3A in human cerebral cortex
Subcellular organization of UBE3A in human cerebral cortex Open
Background Loss of UBE3A causes Angelman syndrome, whereas excess UBE3A activity appears to increase the risk for autism. Despite this powerful association with neurodevelopmental disorders, there is still much to be learned about UBE3A, i…
View article: Delayed loss of UBE3A reduces the expression of Angelman syndrome-associated phenotypes
Delayed loss of UBE3A reduces the expression of Angelman syndrome-associated phenotypes Open
View article: Ube3a reinstatement mitigates epileptogenesis in Angelman syndrome model mice
Ube3a reinstatement mitigates epileptogenesis in Angelman syndrome model mice Open
Angelman syndrome (AS) is a neurodevelopmental disorder in which epilepsy is common (~90%) and often refractory to antiepileptics. AS is caused by mutation of the maternal allele encoding the ubiquitin protein ligase E3A (UBE3A), but it is…
View article: Subcellular organization of UBE3A in human cerebral cortex
Subcellular organization of UBE3A in human cerebral cortex Open
View article: Enhanced Operant Extinction and Prefrontal Excitability in a Mouse Model of Angelman Syndrome
Enhanced Operant Extinction and Prefrontal Excitability in a Mouse Model of Angelman Syndrome Open
Angelman syndrome (AS), a neurodevelopmental disorder associated with intellectual disability, is caused by loss of maternal allele expression of UBE3A in neurons. Mouse models of AS faithfully recapitulate disease phenotypes across multip…
View article: Decreased Axon Caliber Underlies Loss of Fiber Tract Integrity, Disproportional Reductions in White Matter Volume, and Microcephaly in Angelman Syndrome Model Mice
Decreased Axon Caliber Underlies Loss of Fiber Tract Integrity, Disproportional Reductions in White Matter Volume, and Microcephaly in Angelman Syndrome Model Mice Open
Angelman syndrome (AS) is a debilitating neurodevelopmental disorder caused by loss of function of the maternally inherited UBE3A allele. It is currently unclear how the consequences of this genetic insult unfold to impair neurodevelopment…
View article: Subcellular organization of UBE3A in neurons
Subcellular organization of UBE3A in neurons Open
Ubiquitination regulates a broad array of cellular processes, and defective ubiquitination is implicated in several neurological disorders. Loss of the E3 ubiquitin–protein ligase UBE3A causes Angelman syndrome. Despite its clinical import…
View article: GABAergic Neuron-Specific Loss of Ube3a Causes Angelman Syndrome-Like EEG Abnormalities and Enhances Seizure Susceptibility
GABAergic Neuron-Specific Loss of Ube3a Causes Angelman Syndrome-Like EEG Abnormalities and Enhances Seizure Susceptibility Open
View article: Loss of UBE3A from TH-expressing neurons suppresses GABA co-release and enhances VTA-NAc optical self-stimulation
Loss of UBE3A from TH-expressing neurons suppresses GABA co-release and enhances VTA-NAc optical self-stimulation Open
View article: Dissociation of locomotor and cerebellar deficits in a murine Angelman syndrome model
Dissociation of locomotor and cerebellar deficits in a murine Angelman syndrome model Open
Angelman syndrome (AS) is a severe neurological disorder that is associated with prominent movement and balance impairments that are widely considered to be due to defects of cerebellar origin. Here, using the cerebellar-specific vestibulo…