Article
Apoptosis induced by an uromodulin mutant C112Y and its suppression by topiroxostat.
Clinical and experimental nephrology - 1 Aug 2015
Utami Sulistiyati Bayu, Mahati Endang, Li Peili, Maharani Nani, Ikeda Nobuhito, Bahrudin Udin, Munemura Chishio, Hosoyamada Makoto, Yamamoto Yasutaka, Yoshida Akio, Nakayama Yuji, Higaki Katsumi, Nanba Eiji, Ninomiya Haruaki, Shirayoshi Yasuaki, Ichida Kimiyoshi, Yamamoto Kazuhiro, Hosoya Tatsuo, Hisatome Ichiro
Abstract excerpt
BACKGROUND: Familial juvenile hyperuricemic nephropathy (FJHN) is an autosomal dominant disorder caused by mutations in UMOD that encodes uromodulin. Topiroxostat, a novel non-purine analog, selectively inhibits xanthine oxidase and reduces the serum uric acid levels and the urinary albuminuria. METHODS: Genomic DNA of a patient was extracted from peripheral white blood. Exons and flanking sequences of UMOD were...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.