Ontology highlight
ABSTRACT:
SUBMITTER: Pontoglio M
PROVIDER: S-EPMC1083745 | biostudies-literature | 2000 Oct
REPOSITORIES: biostudies-literature
Pontoglio M M Prié D D Cheret C C Doyen A A Leroy C C Froguel P P Velho G G Yaniv M M Friedlander G G
EMBO reports 20001001 4
Recently it has been shown that dominant mutations in the human hepatocyte nuclear factor 1alpha (HNF1alpha) gene, encoding for a homeoprotein that is expressed in liver, kidney, pancreas and intestine, result in maturity onset diabetes of the young type 3 (MODY3). HNF1alpha-null mice are diabetic, but at the same time suffer from a renal Fanconi syndrome characterized by urinary glucose loss. Here we show that MODY3 patients are also characterized by a reduced tubular reabsorption of glucose. T ...[more]