Ube3a Imprinting Impairs Circadian Robustness in Angelman Syndrome Models
نویسندگان
چکیده
منابع مشابه
Ube3a Imprinting Impairs Circadian Robustness in Angelman Syndrome Models
BACKGROUND 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 latency are very common in AS. RESULTS We found a unique link between neuronal imprinti...
متن کاملThe spectrum of mutations in UBE3A causing Angelman syndrome.
Angelman syndrome (AS) is characterized by mental retardation, absence of speech, seizures and motor dysfunction. AS is caused by maternal deletions for chromosome 15q11-q13, paternal uniparental disomy (UPD), imprinting defects or loss-of-function mutations in the UBE3A locus which encodes E6-AP ubiquitin-protein ligase. The UBE3A gene is imprinted with paternal silencing in human brain and si...
متن کاملMaternal UBE3A in Angelman syndrome: "the rest is silence"?
Many a parent of a child with a neurogenetic condition (surprisingly) little pathological material has been available often wonders whether ’tis nobler in the mind to suffer the slings and arrows of outrageous fortune or to contemplate hope for effective treatment. With regard to Angelman syndrome, recent results from molecular biology have opened unsuspected avenues for circumventing the molec...
متن کاملFrom UBE3A to Angelman syndrome: a substrate perspective
Angelman syndrome (AS) is a debilitating neurodevelopmental disorder that is characterized by motor dysfunction, intellectual disability, speech impairment, seizures and common features of autism spectrum disorders (ASDs). Some of these AS related phenotypes can be seen in other neurodevelopmental disorders (Williams, 2011; Tan et al., 2014). AS patients commonly carry mutations that render the...
متن کاملTruncation of Ube3a-ATS Unsilences Paternal Ube3a and Ameliorates Behavioral Defects in the Angelman Syndrome Mouse Model
Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by maternal deficiency of the imprinted gene UBE3A. Individuals with AS suffer from intellectual disability, speech impairment, and motor dysfunction. Currently there is no cure for the disease. Here, we evaluated the phenotypic effect of activating the silenced paternal allele of Ube3a by depleting its antisense RNA Ube3a-AT...
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ژورنال
عنوان ژورنال: Current Biology
سال: 2015
ISSN: 0960-9822
DOI: 10.1016/j.cub.2014.12.047