227 related articles for article (PubMed ID: 7479776)
1. 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]
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. 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]
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. 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]
6. 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]
7. 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]
8. Mutations in muscle phosphofructokinase gene.
Raben N; Sherman JB
Hum Mutat; 1995; 6(1):1-6. PubMed ID: 7550225
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. Novel missense mutation (W686C) of the phosphofructokinase-M gene in a Japanese patient with a mild form of glycogenosis VII.
Hamaguchi T; Nakajima H; Noguchi T; Nakagawa C; Kuwajima M; Kono N; Tarui S; Matsuzawa Y
Hum Mutat; 1996; 8(3):273-5. PubMed ID: 8889589
[No Abstract] [Full Text] [Related]
13. A new variant of muscle phosphofructokinase deficiency in a Japanese case with abnormal RNA splicing.
Hamaguchi T; Nakajima H; Noguchi T; Ono A; Kono N; Tarui S; Kuwajima M; Matsuzawa Y
Biochem Biophys Res Commun; 1994 Jul; 202(1):444-9. PubMed ID: 7518679
[TBL] [Abstract][Full Text] [Related]
14. Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle.
Shen J; Bao Y; Liu HM; Lee P; Leonard JV; Chen YT
J Clin Invest; 1996 Jul; 98(2):352-7. PubMed ID: 8755644
[TBL] [Abstract][Full Text] [Related]
15. Missense mutation in PFKM associated with muscle-type phosphofructokinase deficiency in the Wachtelhund dog.
Inal Gultekin G; Raj K; Lehman S; Hillström A; Giger U
Mol Cell Probes; 2012 Dec; 26(6):243-7. PubMed ID: 22446493
[TBL] [Abstract][Full Text] [Related]
16. Six additional mutations in fucosidosis: three nonsense mutations and three frameshift mutations.
Seo HC; Willems PJ; O'Brien JS
Hum Mol Genet; 1993 Aug; 2(8):1205-8. PubMed ID: 8401503
[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. Two mutations in exon XII of the protein S alpha gene in four thrombophilic families resulting in premature stop codons and depressed levels of mutated mRNA.
Andersen BD; Lind B; Philips M; Hansen AB; Ingerslev J; Thorsen S
Thromb Haemost; 1996 Aug; 76(2):143-50. PubMed ID: 8865520
[TBL] [Abstract][Full Text] [Related]
19. Human thiopurine methyltransferase pharmacogenetics. Kindred with a terminal exon splice junction mutation that results in loss of activity.
Otterness DM; Szumlanski CL; Wood TC; Weinshilboum RM
J Clin Invest; 1998 Mar; 101(5):1036-44. PubMed ID: 9486974
[TBL] [Abstract][Full Text] [Related]
20. Physical and genetic mapping of the muscle phosphofructokinase gene (PFKM): reassignment to human chromosome 12q.
Howard TD; Akots G; Bowden DW
Genomics; 1996 May; 34(1):122-7. PubMed ID: 8661033
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
