Literature for peptidase C64.002: Cezanne-2 peptidase

(Topics flags: M Mutation, K Knockout, V Review. To select only the references relevant to a single topic, click the link above. See explanation.)

2024
1. Olie,C.S., O'Brien,D.P., Jones,H.B.L., Liang,Z., Damianou,A., Sur-Erdem,I., Pinto-Fernandez,A., Raz,V. and Kessler,B.M.
   Deubiquitinases in muscle physiology and disorders
   Biochem Soc Trans52, 1085-1098. PubMed  Europe PubMed DOI  V
2023
2. Unda,B.K., Chalil,L., Yoon,S., Kilpatrick,S., Irwin,C., Xing,S., Murtaza,N., Cheng,A., Brown,C., Afonso,A., McCready,E., Ronen,G.M., Howe,J., Caye-Eude,A., Verloes,A., Doble,B.W., Faivre,L., Vitobello,A., Scherer,S.W., Lu,Y., Penzes,P. and Singh,K.K.
   Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome
   Mol Psychiatry28, 1747-1769. PubMed  Europe PubMed DOI
2022
3. Kozlova,A., Zhang,S., Kotlar,A.V., Jamison,B., Zhang,H., Shi,S., Forrest,M.P., McDaid,J., Cutler,D.J., Epstein,M.P., Zwick,M.E., Pang,Z.P., Sanders,A.R., Warren,S.T., Gejman,P.V., Mulle,J.G. and Duan,J.
   Loss of function of OTUD7A in the schizophrenia- associated 15q13.3 deletion impairs synapse development and function in human neurons
   Am J Hum Genet109, 1500-1519. PubMed  Europe PubMed DOI
2021
4. Su,S., Chen,J., Jiang,Y., Wang,Y., Vital,T., Zhang,J., Laggner,C., Nguyen,K.T., Zhu,Z., Prevatte,A.W., Barker,N.K., Herring,L.E., Davis,I.J. and Liu,P.
   SPOP and OTUD7A Control EWS-FLI1 Protein Stability to Govern Ewing Sarcoma Growth
   Adv Sci (Weinh)e2004846-e2004846. PubMed  Europe PubMed DOI
2020
5. Garret,P., Ebstein,F., Delplancq,G., Dozieres-Puyravel,B., Boughalem,A., Auvin,S., Duffourd,Y., Klafack,S., Zieba,B.A., Mahmoudi,S., Singh,K.K., Duplomb,L., Thauvin-Robinet,C., Costa,J.M., Kruger,E., Trost,D., Verloes,A., Faivre,L. and Vitobello,A.
   Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction
   Clin Genet97, 567-575. PubMed  Europe PubMed DOI  M
2018
6. Uddin,M., Unda,B.K., Kwan,V., Holzapfel,N.T., White,S.H., Chalil,L., Woodbury-Smith,M., Ho,K.S., Harward,E., Murtaza,N., Dave,B., Pellecchia,G., D'Abate,L., Nalpathamkalam,T., Lamoureux,S., Wei,J., Speevak,M., Stavropoulos,J., Hope,K.J., Doble,B.W., Nielsen,J., Wassman,E.R., Scherer,S.W. and Singh,K.K.
   OTUD7A Regulates neurodevelopmental phenotypes in the 15q13.3 microdeletion syndrome
   Am J Hum Genet102, 278-295. PubMed  Europe PubMed DOI
7. Yin,J., Chen,W., Chao,E.S., Soriano,S., Wang,L., Wang,W., Cummock,S.E., Tao,H., Pang,K., Liu,Z., Pereira,F.A., Samaco,R.C., Zoghbi,H.Y., Xue,M. and Schaaf,C.P.
   Otud7a Knockout mice recapitulate many neurological features of 15q13.3 microdeletion syndrome
   Am J Hum Genet102, 296-308. PubMed  Europe PubMed DOI  K
2012
8. Kessler,B.M.
   Otubains
   [ISSN:978-0-12-407743-0]3, 2113-2120. DOI