Fishing out the Angelman syndrome gene

Nature Medicine

Volumn 3, Issue 3, 1997, Pages 281-

  Donlon, Timothy ^a  

^a KAPIOLANI MEDICAL CENTER FOR WOMEN AND CHILDREN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HAPPY PUPPET SYNDROME; HUMAN; INHERITANCE; NOTE; PRIORITY JOURNAL;

ANGELMAN SYNDROME; ANIMALS; GENOMIC IMPRINTING; HUMANS; MUTATION;

EID: 16944366246     PISSN: 10788956     EISSN: None     Source Type: Journal    
DOI: 10.1038/nm0397-281     Document Type: Note

References (6)

1. Angelman, H. "Puppet" children: A report on 3 cases. Dev. Med. Child. Neurol. 7, 681-683 (1965).
2. Wagstaff, J. et al. Maternal but not paternal transmission of 15q11-13-linked nondeletion Angelman syndrome leads to phenotypic expression. Nature Genet. 1, 291-294 (1992).
3. Kishino, T., Lalande, M. & Wagstaff, J. UBE3A/E6-AP mutations cause Angelman syndrome. Nature Genet. 15, 70-73 (1997).
4. Matsuura, T. et al. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nature Genet. 15, 74-77 (1997).
5. Scheffner, M., Nuber, U. & Huibregtse, J.M. Protein ubiquitination involving an E1-E2-E3 enzyme ubiquitin thioester cascade. Nature 373, 81-83 (1995).
6. Oh, C.E., McMahon, R., Benzer, S. & Tanouye, M.A. Bendless, a Drosophila gene affecting neuronal connectivity, encodes a ubiquitin-conjugating enzyme homologue. J. Neurosci. 14, 3166-3179 (1994).