|
1
|
Sirois CL, Bloom JE, Fink JJ, Gorka D,
Keller S, Germain ND, Levine ES and Chamberlain SJ: Abundance and
localization of human UBE3A protein isoforms. Hum Mol Genet.
29:3021–3031. 2020.PubMed/NCBI View Article : Google Scholar
|
|
2
|
Yang X: Towards an understanding of
angelman syndrome in mice studies. J Neurosci Res. 98:1162–1173.
2020.PubMed/NCBI View Article : Google Scholar
|
|
3
|
Ranasinghe JC, Chandradasa D, Fernando S,
Kodithuwakku U, Mandawala DE and Dissanayake VH: Angelman syndrome
presenting with a rare seizure type in a patient with 15q11.2
deletion: A case report. J Med Case Rep. 9(142)2015.PubMed/NCBI View Article : Google Scholar
|
|
4
|
Curtis M, Baribeau D, Walker S, Carter M,
Costain G, Lamoureux S, Liston E, Marshall CR, Reuter MS, Snell M,
et al: A novel intronic variant in UBE3A identified by genome
sequencing in a patient with an atypical presentation of Angelman
syndrome. Am J Med Genet A. 182:2145–2151. 2020.PubMed/NCBI View Article : Google Scholar
|
|
5
|
Bonello D, Camilleri F and Calleja-Agius
J: Angelman syndrome: Identification and management. Neonatal Netw.
36:142–151. 2017.PubMed/NCBI View Article : Google Scholar
|
|
6
|
Gu B, Carstens KE, Judson MC, Dalton KA,
Rougié M, Clark EP, Dudek SM and Philpot BD: Ube3a reinstatement
mitigates epileptogenesis in Angelman syndrome model mice. J Clin
Invest. 129:163–168. 2019.PubMed/NCBI View Article : Google Scholar
|
|
7
|
Scheffner M, Huibregtse JM, Vierstra RD
and Howley PM: The HPV-16 E6 and E6-AP complex functions as a
ubiquitin-protein ligase in the ubiquitination of p53. Cell.
75:495–505. 1993.PubMed/NCBI View Article : Google Scholar
|
|
8
|
Yamamoto Y, Huibregtse JM and Howley PM:
The human E6-AP gene (UBE3A) encodes three potential protein
isoforms generated by differential splicing. Genomics. 41:263–266.
1997.PubMed/NCBI View Article : Google Scholar
|
|
9
|
Valluy J, Bicker S, Aksoy-Aksel A,
Lackinger M, Sumer S, Fiore R, Wüst T, Seffer D, Metge F, Dieterich
C, et al: A coding-independent function of an alternative Ube3a
transcript during neuronal development. Nat Neurosci. 18:666–673.
2015.PubMed/NCBI View
Article : Google Scholar
|
|
10
|
Lopez SJ, Segal DJ and LaSalle JM: UBE3A:
An E3 ubiquitin ligase with genome-wide impact in
neurodevelopmental disease. Front Mol Neurosci.
11(476)2019.PubMed/NCBI View Article : Google Scholar
|
|
11
|
D'Angelo R, Donato L, Venza I, Scimone C,
Aragona P and Sidoti A: Possible protective role of the ABCA4 gene
c.1268A>G missense variant in Stargardt disease and syndromic
retinitis pigmentosa in a Sicilian family: Preliminary data. Int J
Mol Med. 39:1011–1020. 2017.PubMed/NCBI View Article : Google Scholar
|
|
12
|
Buiting K: Prader-Willi syndrome and
Angelman syndrome. Am J Med Genet C Semin Med Genet. 154C:365–376.
2010.PubMed/NCBI View Article : Google Scholar
|
|
13
|
Ciarlone SL, Grieco JC, D'Agostino DP and
Weeber EJ: Ketone ester supplementation attenuates seizure
activity, and improves behavior and hippocampal synaptic plasticity
in an Angelman syndrome mouse model. Neurobiol Dis. 96:38–46.
2016.PubMed/NCBI View Article : Google Scholar
|
|
14
|
Leyser M, de Castro Diniz Gonsalvez M,
Vianna PE, Fernandes PA, Carvalho RS, Vasconcelos MM and Nascimento
OJ: Scrutinizing brain magnetic resonance imaging patterns in
Angelman syndrome. Neurol India. 64:228–232. 2016.PubMed/NCBI View Article : Google Scholar
|
|
15
|
Harting I, Seitz A, Rating D, Sartor K,
Zschocke J, Janssen B, Ebinger F and Wolf NI: Abnormal myelination
in Angelman syndrome. Eur J Paediatr Neurol. l13:271–276.
2009.PubMed/NCBI View Article : Google Scholar
|
|
16
|
Castro-Gago M, Gómez-Lado C, Eirís-Puñal J
and Rodríguez-Mugico VM: Abnormal myelination in Angelman syndrome.
Eur J Paediatr Neuro. 14(292)2010.PubMed/NCBI View Article : Google Scholar
|
|
17
|
Thibert RL, Larson AM, Hsieh DT, Raby AR
and Thiele EA: Neurologic manifestations of Angelman syndrome.
Pediatr Neurol. 48:271–279. 2013.PubMed/NCBI View Article : Google Scholar
|
|
18
|
Boyd SG, Harden A and Patton MA: The EEG
in early diagnosis of the Angelman (happy puppet) syndrome. Eur J
Pediatr. 147:508–513. 1988.PubMed/NCBI View Article : Google Scholar
|
|
19
|
Tan WH, Bird LM, Thibert RL and Williams
CA: If not Angelman, what is it? A review of Angelman-like
syndromes. Am J Med Genet A. 164A:975–992. 2014.PubMed/NCBI View Article : Google Scholar
|
|
20
|
Valente KD, Koiffmann CP, Fridman C,
Varella M, Kok F, Andrade JQ, Grossmann RM and Marques-Dias MJ:
Epilepsy in patients with angelman syndrome caused by deletion of
the chromosome 15q11-13. Arch Neurol. 63:122–128. 2006.PubMed/NCBI View Article : Google Scholar
|