Literature for peptidase M14.018: carboxypeptidase A6

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

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    2015
  1. Sapio,M.R., Vessaz,M., Thomas,P., Genton,P., Fricker,L.D. and Salzmann,A.
    Novel carboxypeptidase A6 (CPA6) mutations identified in patients with juvenile myoclonic and generalized epilepsy
    PLoS ONE10, e0123180-e0123180. PubMed  Europe PubMed DOI  M
  2. 2012
  3. Salzmann,A., Guipponi,M., Lyons,P.J., Fricker,L.D., Sapio,M., Lambercy,C., Buresi,C., Ouled Amar Bencheikh,B., Lahjouji,F., Ouazzani,R., Crespel,A., Chaigne,D. and Malafosse,A.
    Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy
    Hum Mutat33, 124-135. PubMed  Europe PubMed DOI  M
  4. Sapio,M.R., Salzmann,A., Vessaz,M., Crespel,A., Lyons,P.J., Malafosse,A. and Fricker,L.D.
    Naturally occurring carboxypeptidase A6 mutations: effect on enzyme function and association with epilepsy
    J Biol Chem287, 42900-42909. PubMed  Europe PubMed DOI  M
  5. 2008
  6. Lyons,P.J., Callaway,M.B. and Fricker,L.D.
    Characterization of carboxypeptidase A6, an extracellular matrix peptidase
    J Biol Chem283, 7054-7063. PubMed  Europe PubMed DOI  M
  7. 2002
  8. Pizzuti,A., Calabrese,G., Bozzali,M., Telvi,L., Morizio,E., Guida,V., Gatta,V., Stuppia,L., Ion,A., Palka,G. and Dallapiccola,B.
    A peptidase gene in chromosome 8q is disrupted by a balanced translocation in a Duane syndrome patient
    Invest Ophthalmol Vis Sci43, 3609-3612. PubMed  Europe PubMed  M