Literature for peptidase M67.006: STAMBP isopeptidase

Summary Gene structure Alignment Tree Sequences Sequence features Distribution Structure Literature Substrates

(References are filtered for relevance to Mutation. To remove the filter click here. See explanation.)

    2013
  1. McDonell,L.M., Mirzaa,G.M., Alcantara,D., Schwartzentruber,J., Carter,M.T., Lee,L.J., Clericuzio,C.L., Graham,J.M., Jr., Morris-Rosendahl,D.J., Polster,T., Acsadi,G., Townshend,S., Williams,S., Halbert,A., Isidor,B., David,A., Smyser,C.D., Paciorkowski,A.R., Willing,M., Woulfe,J., Das,S., Beaulieu,C.L., Marcadier,J., Geraghty,M.T., Frey,B.J., Majewski,J., Bulman,D.E., Dobyns,W.B., O'Driscoll,M. and Boycott,K.M.
    Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome
    Nat Genet45, 556-562. PubMed  Europe PubMed DOI  M