OROSZ et al:
"One of these, triosephosphate isomerase (TPI) deficiency, is unique
among the glycolytic enzyme defects since it is associated with
progressive neurological dysfunction and frequently with childhood
death. The physiological function of TPI is to adjust the rapid
equilibrium between dihydroxyacetone phosphate and
glyceraldehyde-3-phosphate produced by aldolase in glycolysis, which is
interconnected to the pentose phosphate pathway and to lipid metabolism
via triosephosphates."
*SABiosciences Regulatory transcription factor binding sites in the TPI1 gene promoter:
c-Fos PPAR-gamma1 AP-1 ATF-2 PPAR-gamma2 c-Jun c-Ets-1
Other transcription factors
*development of Giardiasis is a potent sign of this disturbance
*Is TPI involved in salivary gland cancers
*does supplying G3P +DHAP resulting product correct this disease?
*what is the expression of REB1,RAP1,GCR1 in salivary gland cancers?
stephens et al: on Adenoid Cystic Cancer ( fusions of the MYB-NFIB genes)
"We identified multiple mutated genes that, combined, implicate
chromatin deregulation in half of cases. Further, mutations were
identified in known cancer genes, including PIK3CA, ATM, CDKN2A, SF3B1,
SUFU, TSC1, and CYLD. Mutations in NOTCH1/2 were identified in 3 cases,
and we identify the negative NOTCH signaling regulator, SPEN, as a new
cancer gene in ACC with mutations in 5 cases. Finally, the
identification of 3 likely activating mutations in the tyrosine kinase
receptor FGFR2, analogous to those reported in ovarian and endometrial
carcinoma, point to potential therapeutic avenues for a subset of cases."
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