A de novo dominant-negative OTULIN variant is associated with OTULIN Related Autoinflammatory Syndrome.
Takeda Y., Ueki M., Matsuhiro J., Walinda E., Tanaka T., Yamada M., Fujita H., Takezaki S., Kobayashi I., Tamaki S., Nagata S., Miyake N., Matsumoto N., Osawa M., Yasumi T., Heike T., Ohtake F., Saito M. K., Toguchida J., Takita J., Ariga T., and Iwai K.
J. Exp. Med.
221(6):e20231941 (2024)
DOI
Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency.
Oda H., Manthiramm K., Chavan P.P., Rieser E., Veli Ö., Kaya Ö., Rauch C., Nakabo S., Kuehn H.S., Swart M., Wang Y., Çelik N.I., Molitor A., Ziaee V., Movahedi N., Shahrooei M., Parvaneh N., Alipour-Olyei N., Carapito R., Xu Q., Preite S., Beck D.B., Chae J.J., Nehrebecky M., Ombrello A.K., Hoffmann P., Romeo T., Deuitch N.T., Matthíasardóttir B., Mullikin J., Komarow H., Stoddard J., Niemela J., Dobbs K., Sweeney C.L., Anderton H., Lawlor K.E., Yoshitomi H., Yang D., Boehm M., Davis J., Mudd P., Randazzo D., Tsai W.L., Gadina M., Kaplan M.J., Toguchida J., Mayer C.T., Rosenzweig S.D., Notarangelo L.D., Iwai K., Silke J., Schwartzberg P.L., Boisson B., Casanova J.L., Bahram S., Rao A.P., Peltzer N., Walczak H., Lalaoui N., Aksentijevich I., and Kastner D.L.
Nat. Immunol.
2024, Apr 12
DOI
HOIL-1L deficiency induces cell cycle alteration which causes immaturity of skeletal muscle and cardiomyocytes
Akagi K, Baba S, Fujita H, Fuseya Y, Yoshinaga D, Kubota H, Kume E, Fukumura F, Matsuda K, Tanaka T, Hirata T, Saito M, Iwai K, Takita J
scientific reports
2024 Apr 17;14(1):8871.
DOI
Myofiber-type-dependent 'boulder' or 'multitudinous pebble' formations across distinct amylopectinoses
Mitra S, Chen B, Shelton JM, Nitschke S, Wu J, Covington L, Dear M, Lynn T, Verma M, Nitschke F, Fuseya Y, Iwai K, Evers BM, Minassian BA.
Acta Neuropathol.
2024 Feb 27;147(1):46.
DOI
Attenuation of HOIL-1L ligase activity promotes systemic autoimmune disorders by augmenting linear ubiquitin signaling
Fuseya Y, Kadoba K, Liu X, Suetsugu H, Iwasaki T, Ohmura K, Sumida T, Kochi Y, Morinobu A, Terao C, Iwai K.
JCI Insight
2024 Feb 8;9(3):e171108
DOI