8d44: Difference between revisions

Revision as of 20:15, 16 November 2022

Cryo-electron microscopy structure of human kidney Fructose-bisphosphate aldolase B

Structural highlights

8d44 is a 4 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance.
Resources:	FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT

Disease

ALDOB_HUMAN Defects in ALDOB are the cause of hereditary fructose intolerance (HFI) [MIM:229600. HFI is an autosomal recessive disease that results in an inability to metabolize fructose and related sugars. Complete exclusion of fructose results in dramatic recovery; however, if not treated properly, HFI subjects suffer episodes of hypoglycemia, general ill condition, and risk of death the remainder of life.^[1] ^[2] ^[3] ^[4] ^[5] ^[6] ^[7] ^[8] ^[9] ^[10]

Function

ALDOB_HUMAN

References

↑ Santamaria R, Esposito G, Vitagliano L, Race V, Paglionico I, Zancan L, Zagari A, Salvatore F. Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human liver aldolase. Biochem J. 2000 Sep 15;350 Pt 3:823-8. PMID:10970798
↑ Cross NC, Tolan DR, Cox TM. Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation. Cell. 1988 Jun 17;53(6):881-5. PMID:3383242
↑ Cross NC, de Franchis R, Sebastio G, Dazzo C, Tolan DR, Gregori C, Odievre M, Vidailhet M, Romano V, Mascali G, et al.. Molecular analysis of aldolase B genes in hereditary fructose intolerance. Lancet. 1990 Feb 10;335(8685):306-9. PMID:1967768
↑ Brooks CC, Tolan DR. A partially active mutant aldolase B from a patient with hereditary fructose intolerance. FASEB J. 1994 Jan;8(1):107-13. PMID:8299883
↑ Ali M, Sebastio G, Cox TM. Identification of a novel mutation (Leu 256-->Pro) in the human aldolase B gene associated with hereditary fructose intolerance. Hum Mol Genet. 1994 Jan;3(1):203-4. PMID:8162030
↑ Cross NC, Stojanov LM, Cox TM. A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia. Nucleic Acids Res. 1990 Apr 11;18(7):1925. PMID:2336380
↑ Lau J, Tolan DR. Screening for hereditary fructose intolerance mutations by reverse dot-blot. Mol Cell Probes. 1999 Feb;13(1):35-40. PMID:10024431 doi:S0890-8508(98)90208-0
↑ Sanchez-Gutierrez JC, Benlloch T, Leal MA, Samper B, Garcia-Ripoll I, Feliu JE. Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain. J Med Genet. 2002 Sep;39(9):e56. PMID:12205126
↑ Esposito G, Santamaria R, Vitagliano L, Ieno L, Viola A, Fiori L, Parenti G, Zancan L, Zagari A, Salvatore F. Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene. Hum Mutat. 2004 Dec;24(6):534. PMID:15532022 doi:10.1002/humu.9290
↑ Santer R, Rischewski J, von Weihe M, Niederhaus M, Schneppenheim S, Baerlocher K, Kohlschutter A, Muntau A, Posselt HG, Steinmann B, Schneppenheim R. The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. Hum Mutat. 2005 Jun;25(6):594. PMID:15880727 doi:10.1002/humu.9343

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OCA

[1] Santamaria R, Esposito G, Vitagliano L, Race V, Paglionico I, Zancan L, Zagari A, Salvatore F. Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human liver aldolase. Biochem J. 2000 Sep 15;350 Pt 3:823-8. PMID:10970798

[2] Cross NC, Tolan DR, Cox TM. Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation. Cell. 1988 Jun 17;53(6):881-5. PMID:3383242

[3] Cross NC, de Franchis R, Sebastio G, Dazzo C, Tolan DR, Gregori C, Odievre M, Vidailhet M, Romano V, Mascali G, et al.. Molecular analysis of aldolase B genes in hereditary fructose intolerance. Lancet. 1990 Feb 10;335(8685):306-9. PMID:1967768

[4] Brooks CC, Tolan DR. A partially active mutant aldolase B from a patient with hereditary fructose intolerance. FASEB J. 1994 Jan;8(1):107-13. PMID:8299883

[5] Ali M, Sebastio G, Cox TM. Identification of a novel mutation (Leu 256-->Pro) in the human aldolase B gene associated with hereditary fructose intolerance. Hum Mol Genet. 1994 Jan;3(1):203-4. PMID:8162030

[6] Cross NC, Stojanov LM, Cox TM. A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia. Nucleic Acids Res. 1990 Apr 11;18(7):1925. PMID:2336380

[7] Lau J, Tolan DR. Screening for hereditary fructose intolerance mutations by reverse dot-blot. Mol Cell Probes. 1999 Feb;13(1):35-40. PMID:10024431 doi:S0890-8508(98)90208-0

[8] Sanchez-Gutierrez JC, Benlloch T, Leal MA, Samper B, Garcia-Ripoll I, Feliu JE. Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain. J Med Genet. 2002 Sep;39(9):e56. PMID:12205126

[9] Esposito G, Santamaria R, Vitagliano L, Ieno L, Viola A, Fiori L, Parenti G, Zancan L, Zagari A, Salvatore F. Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene. Hum Mutat. 2004 Dec;24(6):534. PMID:15532022 doi:10.1002/humu.9290

[10] Santer R, Rischewski J, von Weihe M, Niederhaus M, Schneppenheim S, Baerlocher K, Kohlschutter A, Muntau A, Posselt HG, Steinmann B, Schneppenheim R. The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. Hum Mutat. 2005 Jun;25(6):594. PMID:15880727 doi:10.1002/humu.9343

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@@ Line 1: / Line 1: @@
-'''Unreleased structure'''
-The entry 8d44 is ON HOLD  until Paper Publication
+==Cryo-electron microscopy structure of human kidney Fructose-bisphosphate aldolase B==
+<StructureSection load='8d44' size='340' side='right'caption='[[8d44]], [[Resolution|resolution]] 2.80&Aring;' scene=''>
-Authors: Lyu, M., Yu, E.W.
+== Structural highlights ==
+<table><tr><td colspan='2'>[[8d44]] is a 4 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=8D44 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=8D44 FirstGlance]. <br>
-Description: Cryo-electron microscopy structure of human kidney Fructose-bisphosphate aldolase B
+</td></tr><tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=8d44 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=8d44 OCA], [https://pdbe.org/8d44 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=8d44 RCSB], [https://www.ebi.ac.uk/pdbsum/8d44 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=8d44 ProSAT]</span></td></tr>
-[[Category: Unreleased Structures]]
+</table>
-[[Category: Lyu, M]]
+== Disease ==
-[[Category: Yu, E.W]]
+[https://www.uniprot.org/uniprot/ALDOB_HUMAN ALDOB_HUMAN] Defects in ALDOB are the cause of hereditary fructose intolerance (HFI) [MIM:[https://omim.org/entry/229600 229600]. HFI is an autosomal recessive disease that results in an inability to metabolize fructose and related sugars. Complete exclusion of fructose results in dramatic recovery; however, if not treated properly, HFI subjects suffer episodes of hypoglycemia, general ill condition, and risk of death the remainder of life.<ref>PMID:10970798</ref> <ref>PMID:3383242</ref> <ref>PMID:1967768</ref> <ref>PMID:8299883</ref> <ref>PMID:8162030</ref> <ref>PMID:2336380</ref> <ref>PMID:10024431</ref> <ref>PMID:12205126</ref> <ref>PMID:15532022</ref> <ref>PMID:15880727</ref>
+== Function ==
+[https://www.uniprot.org/uniprot/ALDOB_HUMAN ALDOB_HUMAN]
+== References ==
+<references/>
+__TOC__
+</StructureSection>
+[[Category: Homo sapiens]]
+[[Category: Large Structures]]
+[[Category: Lyu M]]
+[[Category: Yu EW]]

8d44: Difference between revisions

Revision as of 20:15, 16 November 2022

Cryo-electron microscopy structure of human kidney Fructose-bisphosphate aldolase B

Structural highlights

Disease

Function

References

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