These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

180 related articles for article (PubMed ID: 7825568)

  • 1. Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency.
    Raben N; Exelbert R; Spiegel R; Sherman JB; Nakajima H; Plotz P; Heinisch J
    Am J Hum Genet; 1995 Jan; 56(1):131-41. PubMed ID: 7825568
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions.
    Nichols RC; Rudolphi O; Ek B; Exelbert R; Plotz PH; Raben N
    Am J Hum Genet; 1996 Jul; 59(1):59-65. PubMed ID: 8659544
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutations in muscle phosphofructokinase gene.
    Raben N; Sherman JB
    Hum Mutat; 1995; 6(1):1-6. PubMed ID: 7550225
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency.
    Tsujino S; Servidei S; Tonin P; Shanske S; Azan G; DiMauro S
    Am J Hum Genet; 1994 May; 54(5):812-9. PubMed ID: 7513946
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease.
    Vasconcelos O; Sivakumar K; Dalakas MC; Quezado M; Nagle J; Leon-Monzon M; Dubnick M; Gajdusek DC; Goldfarb LG
    Proc Natl Acad Sci U S A; 1995 Oct; 92(22):10322-6. PubMed ID: 7479776
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Various classes of mutations in patients with phosphofructokinase deficiency (Tarui's disease).
    Raben N; Sherman JB; Adams E; Nakajima H; Argov Z; Plotz P
    Muscle Nerve Suppl; 1995; 3():S35-8. PubMed ID: 7603525
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Muscle phosphofructokinase deficiency in two generations.
    Vorgerd M; Karitzky J; Ristow M; Van Schaftingen E; Tegenthoff M; Jerusalem F; Malin JP
    J Neurol Sci; 1996 Sep; 141(1-2):95-9. PubMed ID: 8880699
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency.
    Sherman JB; Raben N; Nicastri C; Argov Z; Nakajima H; Adams EM; Eng CM; Cowan TM; Plotz PH
    Am J Hum Genet; 1994 Aug; 55(2):305-13. PubMed ID: 8037209
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Heterogeneity of the molecular lesions in inherited phosphofructokinase deficiency.
    Vora S; Davidson M; Seaman C; Miranda AF; Noble NA; Tanaka KR; Frenkel EP; Dimauro S
    J Clin Invest; 1983 Dec; 72(6):1995-2006. PubMed ID: 6227635
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A 5' splice junction mutation leading to exon deletion in an Ashkenazic Jewish family with phosphofructokinase deficiency (Tarui disease).
    Raben N; Sherman J; Miller F; Mena H; Plotz P
    J Biol Chem; 1993 Mar; 268(7):4963-7. PubMed ID: 8444874
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Phosphofructokinase (PFK)].
    Nakajima H
    Nihon Rinsho; 1995 May; 53(5):1241-6. PubMed ID: 7602786
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Characterization of the enzymatic defect in late-onset muscle phosphofructokinase deficiency. New subtype of glycogen storage disease type VII.
    Vora S; DiMauro S; Spear D; Harker D; Danon MJ
    J Clin Invest; 1987 Nov; 80(5):1479-85. PubMed ID: 2960695
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Late-onset muscle weakness in partial phosphofructokinase deficiency: a unique myopathy with vacuoles, abnormal mitochondria, and absence of the common exon 5/intron 5 junction point mutation.
    Sivakumar K; Vasconcelos O; Goldfarb L; Dalakas MC
    Neurology; 1996 May; 46(5):1337-42. PubMed ID: 8628478
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Molecular genetics of phosphofructokinase in the yeast Kluyveromyces lactis.
    Heinisch J; Kirchrath L; Liesen T; Vogelsang K; Hollenberg CP
    Mol Microbiol; 1993 May; 8(3):559-70. PubMed ID: 8326866
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genetic defect in muscle phosphofructokinase deficiency. Abnormal splicing of the muscle phosphofructokinase gene due to a point mutation at the 5'-splice site.
    Nakajima H; Kono N; Yamasaki T; Hotta K; Kawachi M; Kuwajima M; Noguchi T; Tanaka T; Tarui S
    J Biol Chem; 1990 Jun; 265(16):9392-5. PubMed ID: 2140573
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Kinetic properties of erythrocyte phosphofructokinase in patients with type VII glycogenosis from two families--close similarity to liver type phosphofructokinase.
    Shimizu T; Kono N; Mineo I; Sumi S; Nonaka K; Tarui S; Koyama W
    J Inherit Metab Dis; 1984; 7(3):107-11. PubMed ID: 6239061
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Altered allosteric regulation of muscle 6-phosphofructokinase causes Tarui disease.
    Brüser A; Kirchberger J; Schöneberg T
    Biochem Biophys Res Commun; 2012 Oct; 427(1):133-7. PubMed ID: 22995305
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular basis of canine muscle type phosphofructokinase deficiency.
    Smith BF; Stedman H; Rajpurohit Y; Henthorn PS; Wolfe JH; Patterson DF; Giger U
    J Biol Chem; 1996 Aug; 271(33):20070-4. PubMed ID: 8702726
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Functional complementation of yeast phosphofructokinase mutants by the non-allosteric enzyme from Dictyostelium discoideum.
    Estévez AM; Heinisch JJ; Aragón JJ
    FEBS Lett; 1995 Oct; 374(1):100-4. PubMed ID: 7589492
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Fatal familial infantile glycogen storage disease: multisystem phosphofructokinase deficiency.
    Amit R; Bashan N; Abarbanel JM; Shapira Y; Sofer S; Moses S
    Muscle Nerve; 1992 Apr; 15(4):455-8. PubMed ID: 1533013
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.