Zenker,
Mayerle,
Lerch,
Tagariello,
Zerres,
Durie,
Beier,
Hülskamp,
Guzman,
Rehder,
Beemer,
Hamel,
Vanlieferinghen,
Gershoni-Baruch,
Vieira,
Dumic,
Auslender,
Gil-da-Silva-Lopes,
Steinlicht,
Rauh,
Shalev,
Thiel,
Ekici,
Winterpacht,
Kwon,
Varshavsky,
Reis,
- Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). Zenker, M., Mayerle, J., Lerch, M.M., Tagariello, A., Zerres, K., Durie, P.R., Beier, M., Hülskamp, G., Guzman, C., Rehder, H., Beemer, F.A., Hamel, B., Vanlieferinghen, P., Gershoni-Baruch, R., Vieira, M.W., Dumic, M., Auslender, R., Gil-da-Silva-Lopes, V.L., Steinlicht, S., Rauh, M., Shalev, S.A., Thiel, C., Ekici, A.B., Winterpacht, A., Kwon, Y.T., Varshavsky, A., Reis, A. Nat. Genet. (2005)