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Pathway Description
Transaldolase Deficiency
Rattus norvegicus
Category:
Metabolite Pathway
Sub-Category:
Disease
Created: 2018-09-10
Last Updated: 2019-08-16
Transaldolase deficiency, also known as Eyaid syndrome or TALDO deficiency, is a desease caused by homozygous or compound heterozygous mutations in the TALDO1 gene that encodes for transaldolase. The mutation found in one study was a base pair deletion leading to a premature truncation of the protein, preventing its activity in the cell. Other mutations reported in other studies include other deletions or homozygous base pair substitutions that cause a misfolded and non-functional protein.
Transaldolase is an enzyme that reversibly converts D-erythrose 4-phosphate and fructose 6-phosphate to D-sedoheptulose 7-phosphate and D-glyceraldehyde 3-phosphate, as a part of the pentose phosphate pathway.
Almost all affected patients show hepatosplenomegaly, liver dysfunction, low counts for all blood cell types, cardiac defects, and come from consanguinous families. They also show dysmorphic features, including a triangular face, low set ears, and a wide mouth with thin lips. Other signs include abnormal concentrations of polyols in urine and plasma, as well as ribose-, xylulose-, and ribulose-5-phosphate being elevated in urine.
References
Transaldolase Deficiency References
Perl A: The pathogenesis of transaldolase deficiency. IUBMB Life. 2007 Jun;59(6):365-73. doi: 10.1080/15216540701387188.
Pubmed: 17613166
Pentose Phosphate Pathway References
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Lundby A, Secher A, Lage K, Nordsborg NB, Dmytriyev A, Lundby C, Olsen JV: Quantitative maps of protein phosphorylation sites across 14 different rat organs and tissues. Nat Commun. 2012 Jun 6;3:876. doi: 10.1038/ncomms1871.
Pubmed: 22673903
Taira M, Ishijima S, Kita K, Yamada K, Iizasa T, Tatibana M: Nucleotide and deduced amino acid sequences of two distinct cDNAs for rat phosphoribosylpyrophosphate synthetase. J Biol Chem. 1987 Nov 5;262(31):14867-70.
Pubmed: 2822704
Ishijima S, Taira M, Tatibana M: Complete cDNA sequence of rat phosphoribosylpyrophosphate synthetase subunit I (PRS I). Nucleic Acids Res. 1989 Nov 11;17(21):8860. doi: 10.1093/nar/17.21.8860.
Pubmed: 2555779
Shimada H, Taira M, Yamada K, Iizasa T, Tatibana M: Structure of the rat PRPS1 gene encoding phosphoribosylpyrophosphate synthetase subunit I. J Biol Chem. 1990 Mar 5;265(7):3956-60.
Pubmed: 2154494
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Pubmed: 15057822
Florea L, Di Francesco V, Miller J, Turner R, Yao A, Harris M, Walenz B, Mobarry C, Merkulov GV, Charlab R, Dew I, Deng Z, Istrail S, Li P, Sutton G: Gene and alternative splicing annotation with AIR. Genome Res. 2005 Jan;15(1):54-66. doi: 10.1101/gr.2889405.
Pubmed: 15632090
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Pubmed: 15489334
Mukai T, Joh K, Arai Y, Yatsuki H, Hori K: Tissue-specific expression of rat aldolase A mRNAs. Three molecular species differing only in the 5'-terminal sequences. J Biol Chem. 1986 Mar 5;261(7):3347-54.
Pubmed: 3753977
Joh K, Mukai T, Yatsuki H, Hori K: Rat aldolase A messenger RNA: the nucleotide sequence and multiple mRNA species with different 5'-terminal regions. Gene. 1985;39(1):17-24. doi: 10.1016/0378-1119(85)90102-7.
Pubmed: 2416636
Joh K, Arai Y, Mukai T, Hori K: Expression of three mRNA species from a single rat aldolase A gene, differing in their 5' non-coding regions. J Mol Biol. 1986 Aug 5;190(3):401-10. doi: 10.1016/0022-2836(86)90011-2.
Pubmed: 3783705
el-Maghrabi MR, Pilkis J, Marker AJ, Colosia AD, D'Angelo G, Fraser BA, Pilkis SJ: cDNA sequence of rat liver fructose-1,6-bisphosphatase and evidence for down-regulation of its mRNA by insulin. Proc Natl Acad Sci U S A. 1988 Nov;85(22):8430-4. doi: 10.1073/pnas.85.22.8430.
Pubmed: 2847161
el-Maghrabi MR, Lange AJ, Kummel L, Pilkis SJ: The rat fructose-1,6-bisphosphatase gene. Structure and regulation of expression. J Biol Chem. 1991 Feb 5;266(4):2115-20.
Pubmed: 1846613
Bertolotti R, Armbruster-Hilbert L, Okayama H: Liver fructose-1,6-bisphosphatase cDNA: trans-complementation of fission yeast and characterization of two human transcripts. Differentiation. 1995 Jul;59(1):51-60. doi: 10.1046/j.1432-0436.1995.5910051.x.
Pubmed: 7589895
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Maurya DK, Sundaram CS, Bhargava P: Proteome profile of the mature rat olfactory bulb. Proteomics. 2009 May;9(9):2593-9. doi: 10.1002/pmic.200800664.
Pubmed: 19343716
This pathway was propagated using PathWhiz -
Pon, A. et al. Pathways with PathWhiz (2015) Nucleic Acids Res. 43(Web Server issue): W552–W559.
Propagated from SMP0000520
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