Literature for peptidase C14.026: paracaspase

Summary Alignment Tree Sequences Sequence features Distribution Structure Literature Substrates

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

    2020
  1. Wiegmann,H., Reunert,J., Metze,D., Marquardt,T., Engel,T., Kunde,V., Ehl,S., Foell,D., van den Heuvel,I., Oji,V. and Wittkowski,H.
    Refining the dermatological spectrum in primary immunodeficiency: mucosa-associated lymphoid tissue lymphoma translocation protein 1 deficiency mimicking Netherton/Omenn syndromes
    Br J Dermatol182, 202-207. PubMed  Europe PubMed DOI  M
  2. 2019
  3. Frizinsky,S., Rechavi,E., Barel,O., Najeeb,R.H., Greenberger,S., Lee,Y.N., Simon,A.J., Lev,A., Ma,C.A., Sun,G., Blackstone,S.A., Milner,J.D., Somech,R. and Stauber,T.
    Novel MALT1 mutation linked to immunodeficiency, immune dysregulation, and an abnormal T cell receptor repertoire
    J Clin Immunol39, 401-413. PubMed  Europe PubMed DOI  M
  4. 2018
  5. Hyeon,J., Lee,B., Shin,S.H., Yoo,H.Y., Kim,S.J., Kim,W.S., Park,W.Y. and Ko,Y.H.
    Targeted deep sequencing of gastric marginal zone lymphoma identified alterations of TRAF3 and TNFAIP3 that were mutually exclusive for MALT1 rearrangement
    Mod Pathol31, 1418-1428. PubMed  Europe PubMed DOI  M
  6. 2017
  7. Charbit-Henrion,F., Jeverica,A.K., Begue,B., Markelj,G., Parlato,M., Avcin,S.L., Callebaut,I., Bras,M., Parisot,M., Jazbec,J., Homan,M., Ihan,A., Rieux-Laucat,F., Stolzenberg,M.C., Ruemmele,F.M., Avcin,T. and Cerf-Bensussan,N.
    Deficiency in Mucosa Associated Lymphoid Tissue Lymphoma Translocation 1: a novel cause of IPEX-like syndrome
    J Pediatr Gastroenterol Nutr64, 378-384. PubMed  Europe PubMed DOI  M
  8. Du,M.Q.
    MALT lymphoma: genetic abnormalities, immunological stimulation and molecular mechanism
    Best Pract Res Clin Haematol30, 13-23. PubMed  Europe PubMed DOI  M
  9. 2016
  10. Rozmus,J., McDonald,R., Fung,S.Y., Del Bel,K.L., Roden,J., Senger,C., Schultz,K.R., McKinnon,M.L., Davis,J. and Turvey,S.E.
    Successful clinical treatment and functional immunological normalization of human MALT1 deficiency following hematopoietic stem cell transplantation
    Clin Immunol168, 1-5. PubMed  Europe PubMed DOI  M
  11. 2015
  12. Punwani,D., Wang,H., Chan,A.Y., Cowan,M.J., Mallott,J., Sunderam,U., Mollenauer,M., Srinivasan,R., Brenner,S.E., Mulder,A., Claas,F.H., Weiss,A. and Puck,J.M.
    Combined immunodeficiency due to MALT1 mutations, treated by hematopoietic cell transplantation
    J Clin Immunol35, 135-146. PubMed  Europe PubMed DOI  M
  13. 2014
  14. McKinnon,M.L., Rozmus,J., Fung,S.Y., Hirschfeld,A.F., Del Bel,K.L., Thomas,L., Marr,N., Martin,S.D., Marwaha,A.K., Priatel,J.J., Tan,R., Senger,C., Tsang,A., Prendiville,J., Junker,A.K., Seear,M., Schultz,K.R., Sly,L.M., Holt,R.A., Patel,M.S., Friedman,J.M. and Turvey,S.E.
    Combined immunodeficiency associated with homozygous MALT1 mutations
    J Allergy Clin Immunol133, 1458-1462. PubMed  Europe PubMed DOI  M
  15. 2013
  16. Jabara,H.H., Ohsumi,T., Chou,J., Massaad,M.J., Benson,H., Megarbane,A., Chouery,E., Mikhael,R., Gorka,O., Gewies,A., Portales,P., Nakayama,T., Hosokawa,H., Revy,P., Herrod,H., Le Deist,F., Lefranc,G., Ruland,J. and Geha,R.S.
    A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency
    J Allergy Clin Immunol132, 151-158. PubMed  Europe PubMed DOI  M