| X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the beta-subunit of succinyl-CoA synthetase (SUCLA2). Bishop D.F., Tchaikovskii V., Hoffbrand A.V., Fraser M.E., Margolis S.
J. Biol. Chem. 287:28943-28955(2012) · Mapped (10) |
| Primate genome gain and loss: a bone dysplasia, muscular dystrophy, and bone cancer syndrome resulting from mutated retroviral-derived MTAP transcripts. Camacho-Vanegas O., Camacho S.C., Till J., Miranda-Lorenzo I., Terzo E., Ramirez M.C., Schramm V., Cordovano G., Watts G., Mehta S. et al.
Am. J. Hum. Genet. 90:614-627(2012) · UniProtKB (1) |
| Congenital erythropoietic porphyria: characterization of murine models of the severe common (C73R/C73R) and later-onset genotypes. Bishop D.F., Clavero S., Mohandas N., Desnick R.J.
Mol. Med. 17:748-756(2011) · Mapped (6) |
| Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation. Clavero S., Bishop D.F., Giger U., Haskins M.E., Desnick R.J.
Mol. Med. 16:381-388(2010) · UniProtKB (3) |
| Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts. Bishop D.F., Schneider-Yin X., Clavero S., Yoo H.W., Minder E.I., Desnick R.J.
Blood 115:1062-1069(2010) · Mapped (3) |
| Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations. Clavero S., Bishop D.F., Haskins M.E., Giger U., Kauppinen R., Desnick R.J.
Hum. Mol. Genet. 19:584-596(2010) · UniProtKB (3) |
| Sequences of polycythemia-type Friend spleen focus-forming virus in clone-745-derived mouse erythroleukemia cells. Scher W., Jing Y., Lu M., Bishop D.F., Scher B.M.
Arch. Virol. 154:895-898(2009) · UniProtKB (2) |
| Human uroporphyrinogen III synthase: NMR-based mapping of the active site. Cunha L., Kuti M., Bishop D.F., Mezei M., Zeng L., Zhou M.M., Desnick R.J.
Proteins 71:855-873(2008) · Mapped (3) |
| Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions. Bishop D.F., Johansson A., Phelps R., Shady A.A., Ramirez M.C., Yasuda M., Caro A., Desnick R.J.
Am. J. Hum. Genet. 78:645-658(2006) · Mapped (8) |
| Epsilon-sarcoglycan immunoreactivity and mRNA expression in mouse brain. Chan P., Gonzalez-Maeso J., Ruf F., Bishop D.F., Hof P.R., Sealfon S.C.
J. Comp. Neurol. 482:50-73(2005) · Mapped (7) |
| Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation. Cazzola M., May A., Bergamaschi G., Cerani P., Ferrillo S., Bishop D.F.
Blood 100:4236-4238(2002) · UniProtKB (1) |
| Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene. Shady A.A., Colby B.R., Cunha L.F., Astrin K.H., Bishop D.F., Desnick R.J.
Br. J. Haematol. 117:980-987(2002) · UniProtKB (1) |
| Human uroporphyrinogen-III synthase: genomic organization, alternative promoters, and erythroid-specific expression. Aizencang G., Solis C., Bishop D.F., Warner C., Desnick R.J.
Genomics 70:223-231(2000) · UniProtKB (1) · Mapped (8) |
| Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation. Bekri S., Kispal G., Lange H., Fitzsimons E., Tolmie J., Lill R., Bishop D.F.
Blood 96:3256-3264(2000) · UniProtKB (1) · Mapped (1) |
| Uroporphyrinogen III synthase. An alternative promoter controls erythroid-specific expression in the murine gene. Aizencang G.I., Bishop D.F., Forrest D., Astrin K.H., Desnick R.J.
J. Biol. Chem. 275:2295-2304(2000) · UniProtKB (1) · Mapped (8) |
| Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis. Cotter P.D., May A., Li L., Al-Sabah A.I., Fitzsimons E.J., Cazzola M., Bishop D.F.
Blood 93:1757-1769(1999) · UniProtKB (1) |
| The entire genomic sequence and cDNA expression of mouse alpha-galactosidase A. Gotlib R.W., Bishop D.F., Wang A.M., Zeidner K.M., Ioannou Y.I., Adler D.A., Disteche C.M., Desnick R.J.
Biochem. Mol. Med. 57:139-148(1996) · UniProtKB (1) · Mapped (4) |
| X-linked sideroblastic anemia: identification of the mutation in the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) in the original family described by Cooley. Cotter P.D., Rucknagel D.L., Bishop D.F.
Blood 84:3915-3924(1994) · Mapped (2) |
| Genetic linkage of the erythroid-specific delta-aminolevulinate synthase gene (Alas2) to the distal region of the mouse X chromosome. Chapman V.M., Keitz B.T., Bishop D.F.
Mamm. Genome 5:741-741(1994) · Mapped (12) |
| Affinity purification of alpha-galactosidase A from human spleen, placenta, and plasma with elimination of pyrogen contamination. Properties of the purified splenic enzyme compared to other forms. Bishop D.F., Desnick R.J.
J. Biol. Chem. 256:1307-1316(1981) |
| Purification and properties of uroporphyrinogen III synthase from human erythrocytes. Tsai S.F., Bishop D.F., Desnick R.J.
J. Biol. Chem. 262:1268-1273(1987) |
| Human delta-aminolevulinate dehydratase: nucleotide sequence of a full-length cDNA clone. Wetmur J.G., Bishop D.F., Cantelmo C., Desnick R.J.
Proc. Natl. Acad. Sci. U.S.A. 83:7703-7707(1986) · UniProtKB (1) |
| Human uroporphyrinogen III synthase: molecular cloning, nucleotide sequence, and expression of a full-length cDNA. Tsai S.-F., Bishop D.F., Desnick R.J.
Proc. Natl. Acad. Sci. U.S.A. 85:7049-7053(1988) · UniProtKB (1) |
| Synthesis and processing of alpha-galactosidase A in human fibroblasts. Evidence for different mutations in Fabry disease. Lemansky P., Bishop D.F., Desnick R.J., Hasilik A., von Figura K.
J. Biol. Chem. 262:2062-2065(1987) |
| Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme. Bishop D.F., Calhoun D.H., Bernstein H.S., Hantzopoulos P., Quinn M., Desnick R.J.
Proc. Natl. Acad. Sci. U.S.A. 83:4859-4863(1986) · UniProtKB (2) |
