2y5l: Difference between revisions
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{{STRUCTURE_2y5l| PDB=2y5l | SCENE= }} | {{STRUCTURE_2y5l| PDB=2y5l | SCENE= }} | ||
===ORALLY ACTIVE AMINOPYRIDINES AS INHIBITORS OF TETRAMERIC FRUCTOSE 1,6-BISPHOSPHATASE=== | ===ORALLY ACTIVE AMINOPYRIDINES AS INHIBITORS OF TETRAMERIC FRUCTOSE 1,6-BISPHOSPHATASE=== | ||
{{ABSTRACT_PUBMED_21550236}} | |||
==Disease== | |||
[[http://www.uniprot.org/uniprot/F16P1_HUMAN F16P1_HUMAN]] Defects in FBP1 are the cause of fructose-1,6-bisphosphatase deficiency (FBPD) [MIM:[http://omim.org/entry/229700 229700]]. FBPD is inherited as an autosomal recessive disorder mainly in the liver and causes life-threatening episodes of hypoglycemia and metabolic acidosis (lactacidemia) in newborn infants or young children.<ref>PMID:9382095</ref><ref>PMID:12126934</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:021550236</ref><references group="xtra"/> | <ref group="xtra">PMID:021550236</ref><references group="xtra"/><references/> | ||
[[Category: Fructose-bisphosphatase]] | [[Category: Fructose-bisphosphatase]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] |
Revision as of 04:45, 25 March 2013
ORALLY ACTIVE AMINOPYRIDINES AS INHIBITORS OF TETRAMERIC FRUCTOSE 1,6-BISPHOSPHATASEORALLY ACTIVE AMINOPYRIDINES AS INHIBITORS OF TETRAMERIC FRUCTOSE 1,6-BISPHOSPHATASE
Template:ABSTRACT PUBMED 21550236
DiseaseDisease
[F16P1_HUMAN] Defects in FBP1 are the cause of fructose-1,6-bisphosphatase deficiency (FBPD) [MIM:229700]. FBPD is inherited as an autosomal recessive disorder mainly in the liver and causes life-threatening episodes of hypoglycemia and metabolic acidosis (lactacidemia) in newborn infants or young children.[1][2]
About this StructureAbout this Structure
2y5l is a 8 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
See AlsoSee Also
ReferenceReference
- ↑ Hebeisen P, Haap W, Kuhn B, Mohr P, Wessel HP, Zutter U, Kirchner S, Ruf A, Benz J, Joseph C, Alvarez-Sanchez R, Gubler M, Schott B, Benardeau A, Tozzo E, Kitas E. Orally active aminopyridines as inhibitors of tetrameric fructose-1,6-bisphosphatase. Bioorg Med Chem Lett. 2011 Jun 1;21(11):3237-42. Epub 2011 Apr 20. PMID:21550236 doi:10.1016/j.bmcl.2011.04.044
- ↑ Kikawa Y, Inuzuka M, Jin BY, Kaji S, Koga J, Yamamoto Y, Fujisawa K, Hata I, Nakai A, Shigematsu Y, Mizunuma H, Taketo A, Mayumi M, Sudo M. Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency. Am J Hum Genet. 1997 Oct;61(4):852-61. PMID:9382095
- ↑ Matsuura T, Chinen Y, Arashiro R, Katsuren K, Tamura T, Hyakuna N, Ohta T. Two newly identified genomic mutations in a Japanese female patient with fructose-1,6-bisphosphatase (FBPase) deficiency. Mol Genet Metab. 2002 Jul;76(3):207-10. PMID:12126934