PMID: 8598044Feb 23, 1996Paper

Hepatocyte nuclear factor 1 inactivation results in hepatic dysfunction, phenylketonuria, and renal Fanconi syndrome

Cell
M PontoglioM Yaniv

Abstract

HNF1 is a transcriptional activator of many hepatic genes including albumin, alpha1-antitrypsin, and alpha- and beta-fibrinogen. It is related to the homeobox gene family and is predominantly expressed in liver and kidney. Mice lacking HNF1 fail to thrive and die around weaning after a progressive wasting syndrome with a marked liver enlargement. The transcription rate of genes like albumin and alpha1-antitrypsin is reduced, while the gene coding for phenylalanine hydroxylase is totally silent, giving rise to phenylketonuria. Mutant mice also suffer from severe Fanconi syndrome caused by renal proximal tubular dysfunction. The resulting massive urinary glucose loss leads to energy and water wasting. HNF1-deficient mice may provide a model for human renal Fanconi syndrome.

References

Jun 13, 1979·Biochimica Et Biophysica Acta·P MalathiR K Crane
Dec 15, 1992·Proceedings of the National Academy of Sciences of the United States of America·B A CitronS Kaufman
Mar 1, 1990·Proceedings of the National Academy of Sciences of the United States of America·J D McDonaldA Shedlovsky
Dec 1, 1986·Proceedings of the National Academy of Sciences of the United States of America·A GosslerR Kemler
Jun 5, 1987·Science·T ManiatisJ A Fischer
Dec 16, 1983·Biochemical and Biophysical Research Communications·C BesmondA Kahn

❮ Previous
Next ❯

Citations

Feb 1, 1997·Mammalian Genome : Official Journal of the International Mammalian Genome Society·D J SymulaW F Dove
Feb 1, 1997·Mammalian Genome : Official Journal of the International Mammalian Genome Society·D J SymulaW F Dove
Apr 10, 2009·Transgenic Research·Kazuhiro UmeyamaHiroshi Nagashima
Jul 10, 2013·Journal of Gastrointestinal Surgery : Official Journal of the Society for Surgery of the Alimentary Tract·Siong-Seng LiauEmmanuel Huguet
Mar 20, 2003·Current Diabetes Reports·David Q Shih, Markus Stoffel
Aug 12, 2009·Hepatology International·Paulette Bioulac-SageCharles Balabaud
Aug 1, 1996·Trends in Genetics : TIG·A V Anagnostopoulos
Oct 3, 2003·Biochemical and Biophysical Research Communications·Janelle GreenGarth Cooper
Mar 6, 2004·Pathologie-biologie·J Zucman-Rossi
May 6, 2003·Gastroenterology·Pierre Laurent-PuigJessica Zucman-Rossi
Oct 9, 2002·Journal of Molecular Biology·Claire CheretMarco Pontoglio
Jan 24, 2002·Journal of Hepatology·Marco Arrese, Saul J Karpen
Nov 6, 2002·Biochimica Et Biophysica Acta·Niall O'Donnell
May 14, 1999·Trends in Endocrinology and Metabolism : TEM· Yang Chou J, B C Mansfield
May 14, 1999·Trends in Endocrinology and Metabolism : TEM·P Froguel, G Velho
Oct 24, 1998·The International Journal of Biochemistry & Cell Biology·T GuerinS Kaufman
Jan 10, 2013·Nature Communications·Supriya SenNicholas J G Webster
Oct 2, 2002·Nature Genetics·Olivier BluteauJessica Zucman-Rossi
Dec 8, 2009·Nature Medicine·Francisco VerdeguerMarco Pontoglio
Mar 23, 2000·The Biochemical Journal·B ThönyN Blau
Mar 18, 2000·Kidney International·A S Woolf
Sep 1, 1999·Proceedings of the National Academy of Sciences of the United States of America·D Q ShihM Stoffel
Jan 29, 2010·The Journal of Biological Chemistry·William DonelanLi-Jun Yang
Dec 26, 2001·The Journal of Experimental Medicine·M PontoglioF Tedesco
Apr 11, 2008·Thyroid : Official Journal of the American Thyroid Association·Jimin XuJerome M Hershman
Mar 28, 2001·EMBO Reports·M PontoglioG Friedlander

❮ Previous
Next ❯

Related Concepts

Related Feeds

Cell eTOC

Cell is a scientific journal publishing research across a broad range of disciplines within the life sciences field. Discover the latest research from Cell here.