Angelman syndrome

Jennifer M. Mathews; Emily K. Cook; Seth S. Margolis; Charles A. Williams

doi:10.1016/B978-0-12-813955-4.00024-6

Angelman syndrome

Jennifer M. Mathews, Emily K. Cook, Seth S. Margolis, Charles A. Williams

School of Medicine

Research output: Chapter in Book/Report/Conference proceeding › Chapter

Abstract

Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe developmental delay and speech impairment, gait ataxia and/or tremulousness of limbs, microcephaly, seizures, and a unique behavior with a happy demeanor that includes frequent laughing, smiling, and excitability. AS is caused by the disruption of UBE3A that encodes E6-associated protein (E6AP) ubiquitin protein ligase. UBE3A shows parent-specific differential expression, or imprinting, limited to brain and spinal cord neurons. AS results from several genetic mechanisms that disrupt the functional allele of UBE3A inherited from the mother. While Ube3a-deficient mice help to elucidate the mechanisms by which loss of E6AP leads to synaptic dysfunction and AS pathophysiology, this remains an area of active investigation. Therapeutic approaches are now focused on the manipulation of related protein pathways of UBE3A and unsilencing of the paternal allele.

Original language	English (US)
Title of host publication	Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease
Subtitle of host publication	Volume 1
Publisher	Elsevier
Pages	349-361
Number of pages	13
ISBN (Electronic)	9780128139554
DOIs	https://doi.org/10.1016/B978-0-12-813955-4.00024-6
State	Published - Jan 1 2020

Keywords

Angelman syndrome
Behavior phenotype
Chromosome 15
Chromosome disorder
Developmental delay
Genetic imprinting
Intellectual deficiency
Mouse models
Neurogenetics
UBE3A gene

ASJC Scopus subject areas

Medicine(all)

Access to Document

10.1016/B978-0-12-813955-4.00024-6

Cite this

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title = "Angelman syndrome",

abstract = "Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe developmental delay and speech impairment, gait ataxia and/or tremulousness of limbs, microcephaly, seizures, and a unique behavior with a happy demeanor that includes frequent laughing, smiling, and excitability. AS is caused by the disruption of UBE3A that encodes E6-associated protein (E6AP) ubiquitin protein ligase. UBE3A shows parent-specific differential expression, or imprinting, limited to brain and spinal cord neurons. AS results from several genetic mechanisms that disrupt the functional allele of UBE3A inherited from the mother. While Ube3a-deficient mice help to elucidate the mechanisms by which loss of E6AP leads to synaptic dysfunction and AS pathophysiology, this remains an area of active investigation. Therapeutic approaches are now focused on the manipulation of related protein pathways of UBE3A and unsilencing of the paternal allele.",

keywords = "Angelman syndrome, Behavior phenotype, Chromosome 15, Chromosome disorder, Developmental delay, Genetic imprinting, Intellectual deficiency, Mouse models, Neurogenetics, UBE3A gene",

author = "Mathews, {Jennifer M.} and Cook, {Emily K.} and Margolis, {Seth S.} and Williams, {Charles A.}",

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year = "2020",

month = jan,

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doi = "10.1016/B978-0-12-813955-4.00024-6",

language = "English (US)",

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AU - Mathews, Jennifer M.

AU - Cook, Emily K.

AU - Margolis, Seth S.

AU - Williams, Charles A.

PY - 2020/1/1

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N2 - Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe developmental delay and speech impairment, gait ataxia and/or tremulousness of limbs, microcephaly, seizures, and a unique behavior with a happy demeanor that includes frequent laughing, smiling, and excitability. AS is caused by the disruption of UBE3A that encodes E6-associated protein (E6AP) ubiquitin protein ligase. UBE3A shows parent-specific differential expression, or imprinting, limited to brain and spinal cord neurons. AS results from several genetic mechanisms that disrupt the functional allele of UBE3A inherited from the mother. While Ube3a-deficient mice help to elucidate the mechanisms by which loss of E6AP leads to synaptic dysfunction and AS pathophysiology, this remains an area of active investigation. Therapeutic approaches are now focused on the manipulation of related protein pathways of UBE3A and unsilencing of the paternal allele.

AB - Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe developmental delay and speech impairment, gait ataxia and/or tremulousness of limbs, microcephaly, seizures, and a unique behavior with a happy demeanor that includes frequent laughing, smiling, and excitability. AS is caused by the disruption of UBE3A that encodes E6-associated protein (E6AP) ubiquitin protein ligase. UBE3A shows parent-specific differential expression, or imprinting, limited to brain and spinal cord neurons. AS results from several genetic mechanisms that disrupt the functional allele of UBE3A inherited from the mother. While Ube3a-deficient mice help to elucidate the mechanisms by which loss of E6AP leads to synaptic dysfunction and AS pathophysiology, this remains an area of active investigation. Therapeutic approaches are now focused on the manipulation of related protein pathways of UBE3A and unsilencing of the paternal allele.

KW - Angelman syndrome

KW - Behavior phenotype

KW - Chromosome 15

KW - Chromosome disorder

KW - Developmental delay

KW - Genetic imprinting

KW - Intellectual deficiency

KW - Mouse models

KW - Neurogenetics

KW - UBE3A gene

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DO - 10.1016/B978-0-12-813955-4.00024-6

M3 - Chapter

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SP - 349

EP - 361

BT - Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease

PB - Elsevier

ER -

Angelman syndrome

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

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