What is developmental delays, happy demeanor, uncontrollable laughter, obsession with water, motor skill issues, seizures, light pigmented skin and abnormal gait.
100
Where is the UBE3a gene located?
What is on chromosome 15.
100
What was the original name of Angelman Syndrome?
What is "happy puppet syndrome"
100
Who's famous son has Angelman Syndrome?
What is Colin Farrell.
200
At what age does Angelman become noticeable?
What is 2 or 3 years of age.
200
What is one type of treatment for AS?
What is seizure medication, physical therapy and speech therapy.
200
Paternal UBE3a allele expression is silenced by what?
What is a large antisense RNA transcript.
200
What were the two test subjects used for research?
What is a mouse and a fruit fly.
200
What is AS most commonly caused by?
What is a deletion of chromosome 15.
300
What other diseases are AS associated with?
What is autism and Prader-Willi.
300
What is the enzyme associated with breaking down proteins in the UBE3A gene?
What is the ubiquiton-ligase.
300
Who is this syndrome unique to?
What is placental mammals.
300
What does topotecan already treat?
What is ovarian, lung and cervical cancer.
300
What is the current prevalance for AS?
What is 1 in 12,000.
400
What problems occur in the ubiquiton pathway?
What is failure of degradation of proteins and decreased number of new proteins because of the abundance of old proteins.
400
What genetic test is used for AS?
What is 15q11-13 methylation analysis.
400
What are possible reasons for loss of normal parental contribution?
What is translocation, mutation, epigenetic imprinting and uniparental disomy.
400
What did researchers identify that unsilenced the paternal UBEA3 gene?
What is topoisomerase I and II inhibitors.
400
What are other causes of AS? (Between 2-5%)
What is imprinting defects on chromosome 15 and uniparental disomy where maternal UBE3a is not inherited.
500
What section of the chromosome is associated with AS?
What is deletions in the 15q11-q13 region from the mother.
500
What enzyme to UBE3A code for?
What is E6-AP ubiquitin-ligase.
500
Who are the genetic neighbors of UBE3A? (list one)
What is SNRPN and necdin.
500
What does topotecan do?
It unsilences UBEa3 by reducing transcription of an imprinted antisense RNA.
500
What synaptic neurotransmitter was unregulated in mice?