Below are the most recent publications written about "Wolfram Syndrome" by people in Profiles.
-
Astuti D, Sabir A, Fulton P, Zatyka M, Williams D, Hardy C, Milan G, Favaretto F, Yu-Wai-Man P, Rohayem J, L?pez de Heredia M, Hershey T, Tranebjaerg L, Chen JH, Chaussenot A, Nunes V, Marshall B, McAfferty S, Tillmann V, Maffei P, Paquis-Flucklinger V, Geberhiwot T, Mlynarski W, Parkinson K, Picard V, Bueno GE, Dias R, Arnold A, Richens C, Paisey R, Urano F, Semple R, Sinnott R, Barrett TG. Monogenic diabetes syndromes: Locus-specific databases for Alstr?m, Wolfram, and Thiamine-responsive megaloblastic anemia. Hum Mutat. 2017 07; 38(7):764-777.
-
De Franco E, Flanagan SE, Yagi T, Abreu D, Mahadevan J, Johnson MB, Jones G, Acosta F, Mulaudzi M, Lek N, Oh V, Petz O, Caswell R, Ellard S, Urano F, Hattersley AT. Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts. Diabetes. 2017 07; 66(7):2044-2053.
-
Lugar HM, Koller JM, Rutlin J, Marshall BA, Kanekura K, Urano F, Bischoff AN, Shimony JS, Hershey T. Neuroimaging evidence of deficient axon myelination in Wolfram syndrome. Sci Rep. 2016 Feb 18; 6:21167.
-
Urano F. Wolfram Syndrome: Diagnosis, Management, and Treatment. Curr Diab Rep. 2016 Jan; 16(1):6.
-
Kanekura K, Ma X, Murphy JT, Zhu LJ, Diwan A, Urano F. IRE1 prevents endoplasmic reticulum membrane permeabilization and cell death under pathological conditions. Sci Signal. 2015 Jun 23; 8(382):ra62.
-
Lu S, Kanekura K, Hara T, Mahadevan J, Spears LD, Oslowski CM, Martinez R, Yamazaki-Inoue M, Toyoda M, Neilson A, Blanner P, Brown CM, Semenkovich CF, Marshall BA, Hershey T, Umezawa A, Greer PA, Urano F. A calcium-dependent protease as a potential therapeutic target for Wolfram syndrome. Proc Natl Acad Sci U S A. 2014 Dec 09; 111(49):E5292-301.
-
Urano F. Wolfram syndrome iPS cells: the first human cell model of endoplasmic reticulum disease. Diabetes. 2014 Mar; 63(3):844-6.
-
Urano F. Diabetes: Targeting endoplasmic reticulum to combat juvenile diabetes. Nat Rev Endocrinol. 2014 Mar; 10(3):129-30.
-
Kanekura K, Ishigaki S, Merksamer PI, Papa FR, Urano F. Establishment of a system for monitoring endoplasmic reticulum redox state in mammalian cells. Lab Invest. 2013 Nov; 93(11):1254-8.
-
Bonnycastle LL, Chines PS, Hara T, Huyghe JR, Swift AJ, Heikinheimo P, Mahadevan J, Peltonen S, Huopio H, Nuutila P, Narisu N, Goldfeder RL, Stitzel ML, Lu S, Boehnke M, Urano F, Collins FS, Laakso M. Autosomal dominant diabetes arising from a Wolfram syndrome 1 mutation. Diabetes. 2013 Nov; 62(11):3943-50.