Article
Identification of novel OCRL isoforms associated with phenotypic differences between Dent disease-2 and Lowe syndrome.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 25 Jan 2022
Sakakibara Nana, Ijuin Takeshi, Horinouchi Tomoko, Yamamura Tomohiko, Nagano China, Okada Eri, Ishiko Shinya, Aoto Yuya, Rossanti Rini, Ninchoji Takeshi, Awano Hiroyuki, Nagase Hiroaki, Minamikawa Shogo, Tanaka Ryojiro, Matsuyama Takeshi, Nagatani Koji, Kamei Koichi, Jinnouchi Kumiko, Ohtsuka Yasufumi, Oka Masafumi, Araki Yoshinori, Tanaka Toju, Harada Mari S, Igarashi Toru, Kitahara Hikaru, Morisada Naoya, Nakamura Shun-Ichi, Okada Taro, Iijima Kazumoto, Nozu Kandai
Abstract excerpt
BACKGROUND: Although Lowe syndrome and Dent disease-2 are caused by Oculocerebrorenal syndrome of Lowe (OCRL) mutations, their clinical severities differ substantially and their molecular mechanisms remain unclear. Truncating mutations in OCRL exons 1-7 lead to Dent disease-2, whereas those in exons 8-24 lead to Lowe syndrome. Herein we identified the mechanism underlying the action of novel OCRL protein...
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