Article
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).
Nature genetics - 1 Dec 2005
Zenker Martin, Mayerle Julia, Lerch Markus M, Tagariello Andreas, Zerres Klaus, Durie Peter R, Beier Matthias, Hülskamp Georg, Guzman Celina, Rehder Helga, Beemer Frits A, Hamel Ben, Vanlieferinghen Philippe, Gershoni-Baruch Ruth, Vieira Marta W, Dumic Miroslav, Auslender Ron, Gil-da-Silva-Lopes Vera L, Steinlicht Simone, Rauh Manfred, Shalev Stavit A, Thiel Christian, Ekici Arif B, Winterpacht Andreas, Kwon Yong Tae, Varshavsky Alexander, Reis André
Abstract excerpt
Johanson-Blizzard syndrome (OMIM 243800) is an autosomal recessive disorder that includes congenital exocrine pancreatic insufficiency, multiple malformations such as nasal wing aplasia, and frequent mental retardation. We mapped the disease-associated locus to chromosome 15q14-21.1 and identified mutations, mostly truncating ones, in the gene UBR1 in 12 unrelated families with Johanson-Blizzard syndrome. UBR1...
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