Gene Review:
PFKL - phosphofructokinase, liver
Homo sapiens
Synonyms:
6-phosphofructokinase type B, ATP-PFK, ATP-dependent 6-phosphofructokinase, liver type, PFK-B, PFK-L, ...
- Isozymes of human phosphofructokinase: biochemical and genetic aspects. Vora, S. Isozymes Curr. Top. Biol. Med. Res. (1983)
- Down syndrome congenital heart disease: a narrowed region and a candidate gene. Barlow, G.M., Chen, X.N., Shi, Z.Y., Lyons, G.E., Kurnit, D.M., Celle, L., Spinner, N.B., Zackai, E., Pettenati, M.J., Van Riper, A.J., Vekemans, M.J., Mjaatvedt, C.H., Korenberg, J.R. Genet. Med. (2001)
- PME of Unverricht-Lundborg type in the Mediterranean region: linkage and linkage disequilibrium confirm the assignment to the EPM1 locus. Lehesjoki, A.E., Tassinari, C.A., Avanzini, G., Michelucci, R., Franceschetti, S., Antonelli, A., Rubboli, G., de la Chapelle, A. Hum. Genet. (1994)
- Lafora disease is not linked to the Unverricht-Lundborg locus. Labauge, P., Beck, C., Bellet, H., Coquillat, G., Vespignani, H., Dulac, O., Gilgenkrantz, S., Dravet, C., Genton, P., Pellissier, J.F. Am. J. Med. Genet. (1995)
- Characterization and molecular cloning of an adenosine kinase from Babesia canis rossi. Carret, C., Delbecq, S., Labesse, G., Carcy, B., Precigout, E., Moubri, K., Schetters, T.P., Gorenflot, A. Eur. J. Biochem. (1999)
- A possible vulnerability locus for bipolar affective disorder on chromosome 21q22.3. Straub, R.E., Lehner, T., Luo, Y., Loth, J.E., Shao, W., Sharpe, L., Alexander, J.R., Das, K., Simon, R., Fieve, R.R. Nat. Genet. (1994)
- A comprehensive linkage analysis of chromosome 21q22 supports prior evidence for a putative bipolar affective disorder locus. Aita, V.M., Liu, J., Knowles, J.A., Terwilliger, J.D., Baltazar, R., Grunn, A., Loth, J.E., Kanyas, K., Lerer, B., Endicott, J., Wang, Z., Penchaszadeh, G., Gilliam, T.C., Baron, M. Am. J. Hum. Genet. (1999)
- Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1). Lalioti, M.D., Mirotsou, M., Buresi, C., Peitsch, M.C., Rossier, C., Ouazzani, R., Baldy-Moulinier, M., Bottani, A., Malafosse, A., Antonarakis, S.E. Am. J. Hum. Genet. (1997)
- Assignment of the human gene for liver-type 6-phosphofructokinase isozyme (PFKL) to chromosome 21 by using somatic cell hybrids and monoclonal anti-L antibody. Vora, S., Francke, U. Proc. Natl. Acad. Sci. U.S.A. (1981)
- Unverricht-Lundborg disease: absence of nonallelic genetic heterogeneity. Cochius, J.I., Figlewicz, D.A., Kälviäinen, R., Nousiainen, U., Farrell, K., Patry, G., Söderfeldt, B., Frydman, M., Lerman, P., Andermann, F. Ann. Neurol. (1993)
- Identification of a canine model of pyruvate dehydrogenase phosphatase 1 deficiency. Cameron, J.M., Maj, M.C., Levandovskiy, V., Mackay, N., Shelton, G.D., Robinson, B.H. Mol. Genet. Metab. (2007)
- Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis. Scott, H.S., Kyriakou, D.S., Peterson, P., Heino, M., Tähtinen, M., Krohn, K., Chen, H., Rossier, C., Lalioti, M.D., Antonarakis, S.E. Genomics (1998)
- Regional assignment of human liver-type 6-phosphofructokinase to chromosome 21q22.3 by using somatic cell hybrids and a monoclonal anti-L antibody. Van Keuren, M., Drabkin, H., Hart, I., Harker, D., Patterson, D., Vora, S. Hum. Genet. (1986)
- Genomic clones of the human liver-type phosphofructokinase. Levanon, D., Danciger, E., Dafni, N., Groner, Y. Biochem. Biophys. Res. Commun. (1986)
- Gene dosage and Down's syndrome: metabolic and enzymatic changes in PC12 cells overexpressing transfected human liver-type phosphofructokinase. Elson, A., Bernstein, Y., Degani, H., Levanon, D., Ben-Hur, H., Groner, Y. Somat. Cell Mol. Genet. (1992)
- The primary structure of human liver type phosphofructokinase and its comparison with other types of PFK. Levanon, D., Danciger, E., Dafni, N., Bernstein, Y., Elson, A., Moens, W., Brandeis, M., Groner, Y. DNA (1989)
- Overexpression of caveolin-1 results in increased plasma membrane targeting of glycolytic enzymes: the structural basis for a membrane associated metabolic compartment. Raikar, L.S., Vallejo, J., Lloyd, P.G., Hardin, C.D. J. Cell. Biochem. (2006)
- Mapping of glycolytic enzyme-binding sites on human erythrocyte band 3. Chu, H., Low, P.S. Biochem. J. (2006)
- Oxidative stress reversibly inactivates myocardial enzymes during cardiac arrest. Sharma, A.B., Sun, J., Howard, L.L., Williams, A.G., Mallet, R.T. Am. J. Physiol. Heart Circ. Physiol. (2007)
- Activity, distribution and regulation of phosphofructokinase in salivary gland of rats with streptozotocin-induced diabetes. Nicolau, J., Souza, D.N., Nogueira, F.N. Pesquisa odontológica brasileira = Brazilian oral research. (2006)
- Genetic localization of Bethlem myopathy. Jobsis, G.J., Bolhuis, P.A., Boers, J.M., Baas, F., Wolterman, R.A., Hensels, G.W., de Visser, M. Neurology (1996)
- Human chromosome 21q22.2-qter carries a gene(s) responsible for downregulation of mlc2a and PEBP in Down syndrome model mice. Kazuki, Y., Kimura, M., Nishigaki, R., Kai, Y., Abe, S., Okita, C., Shirayoshi, Y., Schulz, T.C., Tomizuka, K., Hanaoka, K., Inoue, T., Oshimura, M. Biochem. Biophys. Res. Commun. (2004)
- SMT3A, a human homologue of the S. cerevisiae SMT3 gene, maps to chromosome 21qter and defines a novel gene family. Lapenta, V., Chiurazzi, P., van der Spek, P., Pizzuti, A., Hanaoka, F., Brahe, C. Genomics (1997)
- Superoxide dismutase and glutathione peroxidase abnormalities in erythrocytes and lymphoid cells in Down syndrome. Frischer, H., Chu, L.K., Ahmad, T., Justice, P., Smith, G.F. Prog. Clin. Biol. Res. (1981)
- Cloning the cDNA of human PWP2, which encodes a protein with WD repeats and maps to 21q22.3. Lalioti, M.D., Chen, H., Rossier, C., Shafaatian, R., Reid, J.D., Antonarakis, S.E. Genomics (1996)
- Linkage mapping of D21S171 to the distal long arm of human chromosome 21 using a polymorphic (AC)n dinucleotide repeat. Petersen, M.B., Weber, J.L., Slaugenhaupt, S.A., Kwitek, A.E., McInnis, M.G., Chakravarti, A., Antonarakis, S.E. Hum. Genet. (1991)
- Localization of a human homolog of the mouse pericentrin gene (PCNT) to chromosome 21qter. Chen, H., Gos, A., Morris, M.A., Antonarakis, S.E. Genomics (1996)
- Protective effect of Portulaca oleracea extracts on hypoxic nerve tissue and its mechanism. Wang, W., Gu, L., Dong, L., Wang, X., Ling, C., Li, M. Asia Pacific journal of clinical nutrition (2007)