1. Ube3a imprinting impairs circadian robustness in angelman syndrome models.

    Current Biology 25(5):537 (2015) PMID 25660546 PMCID PMC4348236

    The paternal allele of Ube3a is silenced by imprinting in neurons, and Angelman syndrome (AS) is a disorder arising from a deletion or mutation of the maternal Ube3a allele, which thereby eliminates Ube3a neuronal expression. Sleep disorders such as short sleep duration and increased sleep onset...
  2. BDNF and Huntingtin protein modifications by manganese: implications for striatal medium spiny neuron pathology in manganese neurotoxicity.

    Journal of Neurochemistry 131(5):655 (2014) PMID 25099302 PMCID PMC4296578

    High levels of manganese (Mn) exposure decrease striatal medium spiny neuron (MSN) dendritic length and spine density, but the mechanism(s) are not known. The Huntingtin (HTT) gene has been functionally linked to cortical brain-derived neurotrophic factor (BDNF) support of striatal MSNs via phos...
  3. BDNF and Huntingtin protein modifications by manganese: implications for striatal medium spiny neuron pathology in manganese neurotoxicity.

    Journal of Neurochemistry 131(5):655 (2014) PMID 25099302

    High levels of manganese (Mn) exposure decrease striatal medium spiny neuron (MSN) dendritic length and spine density, but the mechanism(s) are not known. The Huntingtin (HTT) gene has been functionally linked to cortical brain-derived neurotrophic factor (BDNF) support of striatal MSNs via phos...
  4. BDNF and Huntingtin protein modifications by manganese: implications for striatal medium spiny neuron pathology in manganese neurotoxicity.

    Journal of Neurochemistry 131(5):655 (2014) PMID 25099302

    High levels of manganese (Mn) exposure decrease striatal medium spiny neuron (MSN) dendritic length and spine density, but the mechanism(s) are not known. The Huntingtin (HTT) gene has been functionally linked to cortical brain-derived neurotrophic factor (BDNF) support of striatal MSNs via phos...
  5. BDNF and Huntingtin protein modifications by manganese: implications for striatal medium spiny neuron pathology in manganese neurotoxicity.

    Journal of Neurochemistry 131(5):655 (2014) PMID 25099302

    High levels of manganese (Mn) exposure decrease striatal medium spiny neuron (MSN) dendritic length and spine density, but the mechanism(s) are not known. The Huntingtin (HTT) gene has been functionally linked to cortical brain-derived neurotrophic factor (BDNF) support of striatal MSNs via phos...
  6. BDNF and Huntingtin protein modifications by manganese: implications for striatal medium spiny neuron pathology in manganese neurotoxicity.

    Journal of Neurochemistry 131(5):655 (2014) PMID 25099302

    High levels of manganese (Mn) exposure decrease striatal medium spiny neuron (MSN) dendritic length and spine density, but the mechanism(s) are not known. The Huntingtin (HTT) gene has been functionally linked to cortical brain-derived neurotrophic factor (BDNF) support of striatal MSNs via phos...
  7. BDNF and Huntingtin protein modifications by manganese: implications for striatal medium spiny neuron pathology in manganese neurotoxicity.

    Journal of Neurochemistry 131(5):655 (2014) PMID 25099302

    High levels of manganese (Mn) exposure decrease striatal medium spiny neuron (MSN) dendritic length and spine density, but the mechanism(s) are not known. The Huntingtin (HTT) gene has been functionally linked to cortical brain-derived neurotrophic factor (BDNF) support of striatal MSNs via phos...
  8. BDNF and Huntingtin protein modifications by manganese: implications for striatal medium spiny neuron pathology in manganese neurotoxicity.

    Journal of Neurochemistry 131(5):655 (2014) PMID 25099302 PMCID PMC4296578

    High levels of manganese (Mn) exposure decrease striatal medium spiny neuron (MSN) dendritic length and spine density, but the mechanism(s) are not known. The Huntingtin (HTT) gene has been functionally linked to cortical brain-derived neurotrophic factor (BDNF) support of striatal MSNs via phos...
  9. Angelman syndrome: Mutations influence features in early childhood.

    American Journal of Medical Genetics Part A 155A(1):81 (2011) PMID 21204213 PMCID PMC3563320

    Angelman syndrome (AS) is a neurodevelopmental disorder caused by a lack of expression of the maternal copy of UBE3A. Although the "classic" features of AS are well described, few large-scale studies have delineated the clinical features in AS. We present baseline data from 92 children with a mo...
  10. Angelman syndrome: Mutations influence features in early childhood.

    American Journal of Medical Genetics Part A 155A(1):81 (2011) PMID 21204213 PMCID PMC3563320

    Angelman syndrome (AS) is a neurodevelopmental disorder caused by a lack of expression of the maternal copy of UBE3A. Although the "classic" features of AS are well described, few large-scale studies have delineated the clinical features in AS. We present baseline data from 92 children with a mo...
  11. Tissue-specific variation of Ube3a protein expression in rodents and in a mouse model of Angelman syndrome.

    Neurobiology of Disease 39(3):283 (2010) PMID 20423730 PMCID PMC2922926

    Angelman syndrome (AS) is a neurogenetic disorder caused by loss of maternal UBE3A expression or mutation-induced dysfunction of its protein product, the E3 ubiquitin-protein ligase, UBE3A. In humans and rodents, UBE3A/Ube3a transcript is maternally imprinted in several brain regions, but the di...
  12. Tissue-specific variation of Ube3a protein expression in rodents and in a mouse model of Angelman syndrome.

    Neurobiology of Disease 39(3):283 (2010) PMID 20423730 PMCID PMC2922926

    Angelman syndrome (AS) is a neurogenetic disorder caused by loss of maternal UBE3A expression or mutation-induced dysfunction of its protein product, the E3 ubiquitin-protein ligase, UBE3A. In humans and rodents, UBE3A/Ube3a transcript is maternally imprinted in several brain regions, but the di...
  13. A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations.

    Journal of Developmental and Behavioral Pediatrics 31(7):592 (2010) PMID 20729760 PMCID PMC2997715

    Angelman syndrome (AS) is a neurodevelopmental disorder caused by a deletion on chromosome 15, uniparental disomy, imprinting defect, or UBE3A mutation. It is characterized by intellectual disability with minimal speech and certain behavioral characteristics. We used standardized measures to cha...
  14. Tissue-specific variation of Ube3a protein expression in rodents and in a mouse model of Angelman syndrome.

    Neurobiology of Disease 39(3):283 (2010) PMID 20423730 PMCID PMC2922926

    Angelman syndrome (AS) is a neurogenetic disorder caused by loss of maternal UBE3A expression or mutation-induced dysfunction of its protein product, the E3 ubiquitin-protein ligase, UBE3A. In humans and rodents, UBE3A/Ube3a transcript is maternally imprinted in several brain regions, but the di...
  15. A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations.

    Journal of Developmental and Behavioral Pediatrics 31(7):592 (2010) PMID 20729760 PMCID PMC2997715

    Angelman syndrome (AS) is a neurodevelopmental disorder caused by a deletion on chromosome 15, uniparental disomy, imprinting defect, or UBE3A mutation. It is characterized by intellectual disability with minimal speech and certain behavioral characteristics. We used standardized measures to cha...
  16. Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid.

    American Journal of Medical Genetics Part A 152A(8):1994 (2010) PMID 20635355 PMCID PMC3172130

    Angelman syndrome (AS) is caused by reduced or absent expression of the maternally inherited ubiquitin protein ligase 3A gene (UBE3A), which maps to chromosome 15q11-q13. UBE3A is subject to genomic imprinting in neurons in most regions of the brain. Expression of UBE3A from the maternal chromos...
  17. Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid.

    American Journal of Medical Genetics Part A 152A(8):1994 (2010) PMID 20635355 PMCID PMC3172130

    Angelman syndrome (AS) is caused by reduced or absent expression of the maternally inherited ubiquitin protein ligase 3A gene (UBE3A), which maps to chromosome 15q11-q13. UBE3A is subject to genomic imprinting in neurons in most regions of the brain. Expression of UBE3A from the maternal chromos...
  18. Tissue-specific variation of Ube3a protein expression in rodents and in a mouse model of Angelman syndrome

    Neurobiology of Disease 39(3):283 (2010)

    Angelman syndrome (AS) is a neurogenetic disorder caused by loss of maternal UBE3A expression or mutation-induced dysfunction of its protein product, the E3 ubiquitin–protein ligase, UBE3A. In humans and rodents, UBE3A/ Ube3a transcript is maternally imprinted in several...
  19. Tissue-specific variation of Ube3a protein expression in rodents and in a mouse model of Angelman syndrome

    Neurobiology of Disease 39(3):283 (2010) PMID 20423730 PMCID PMC2922926

    Angelman syndrome (AS) is a neurogenetic disorder caused by loss of maternal UBE3A expression or mutation-induced dysfunction of its protein product, the E3 ubiquitin–protein ligase, UBE3A. In humans and rodents, UBE3A/ Ube3a transcript is maternally imprinted in several...
  20. Tissue-specific variation of Ube3a protein expression in rodents and in a mouse model of Angelman syndrome

    Neurobiology of Disease 39(3):283 (2010) PMID 20423730 PMCID PMC2922926

    Angelman syndrome (AS) is a neurogenetic disorder caused by loss of maternal UBE3A expression or mutation-induced dysfunction of its protein product, the E3 ubiquitin–protein ligase, UBE3A. In humans and rodents, UBE3A/ Ube3a transcript is maternally imprinted in several...