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David Bishop

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Manisha Balwani; David F Bishop; D Montgomery Bissell; Joseph Bloomer; Herbert L Bonkovsky; Harry A Dailey; Dana Doheny; Lawrence Liu; Irina Nazarenko; John D Phillips; Makiko Yasuda; Karl E Anderson; Robert J Desnick
Loss-of-Function Ferrochelatase and Gain-of-Function Erythroid-Specific 5-Aminolevulinate Synthase Mutations Causing Erythropoietic Protoporphyria and X-Linked Protoporphyria in North American Patients Reveal Novel Mutations and a High Prevalence of X-Linked Protoporphyria.
David F Bishop; Irina Nazarenko; Vassili Tchaikovskii; Robert J Desnick
Molecular expression and characterization of erythroid-specific 5-aminolevulinate synthase gain-of-function mutations causing X-linked protoporphyria.
David F Bishop; Marie E Fraser; A Victor Hoffbrand; Vassili Tchaikovskii; Steven Margolis
X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the β-subunit of succinyl-CoA synthetase (SUCLA2).

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All Publications

2013: Manisha Balwani; David F Bishop; D Montgomery Bissell; Joseph Bloomer; Herbert L Bonkovsky; Harry A Dailey; Dana Doheny; Lawrence Liu; Irina Nazarenko; John D Phillips; Makiko Yasuda; Karl E Anderson; Robert J Desnick
Loss-of-Function Ferrochelatase and Gain-of-Function Erythroid-Specific 5-Aminolevulinate Synthase Mutations Causing Erythropoietic Protoporphyria and X-Linked Protoporphyria in North American Patients Reveal Novel Mutations and a High Prevalence of X-Linked Protoporphyria.
Molecular medicine (Cambridge, Mass.) 2013;19(1):26-35.
2013: David F Bishop; Irina Nazarenko; Vassili Tchaikovskii; Robert J Desnick
Molecular expression and characterization of erythroid-specific 5-aminolevulinate synthase gain-of-function mutations causing X-linked protoporphyria.
Molecular medicine (Cambridge, Mass.) 2013;19():18-25.
2012: David F Bishop; Marie E Fraser; A Victor Hoffbrand; Vassili Tchaikovskii; Steven Margolis
X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the β-subunit of succinyl-CoA synthetase (SUCLA2).
The Journal of biological chemistry 2012;287(34):28943-55.
2012: Olga Camacho-Vanegas; Grace Cordovano; Marc J Glucksman; Benjamin Hoch; Virginia Kimonis; David F Bishop; Sandra Catalina Camacho; Sarju Mehta; Irene Miranda-Lorenzo; Keith D Philibert; Carsten A Raabe; Maria Celeste M Ramirez; Vern L Schramm; Esteban Terzo; Jacob Till; Giles Watts; John A Martignetti
Primate genome gain and loss: a bone dysplasia, muscular dystrophy, and bone cancer syndrome resulting from mutated retroviral-derived MTAP transcripts.
American journal of human genetics 2012;90(4):614-27.
2010: Sonia Clavero; David F Bishop; Urs Giger; Mark E Haskins; Robert J Desnick
Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation.
Molecular medicine (Cambridge, Mass.) 2010;16(9-10):381-8.
2010: Sonia Clavero; David F Bishop; Mark E Haskins; Urs Giger; Raili Kauppinen; Robert J Desnick
Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations.
Human molecular genetics 2010;19(4):584-96.
2010: David F Bishop; Xiaoye Schneider-Yin; Sonia Clavero; Han-Wook Yoo; Elisabeth I Minder; Robert J Desnick
Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts.
Blood 2010;115(5):1062-9.
2010: Makiko Yasuda; David F Bishop; Mary Fowkes; Seng Cheng; Lin Gan; Robert J Desnick
AAV8-mediated gene therapy prevents induced biochemical attacks of acute intermittent porphyria and improves neuromotor function.
Molecular therapy : the journal of the American Society of Gene Therapy 2010;18(1):17-22.
2008: Luis Cunha; Miklos Kuti; David F Bishop; Mihaly Mezei; Lei Zeng; Ming-Ming Zhou; Robert J Desnick
Human uroporphyrinogen III synthase: NMR-based mapping of the active site.
Proteins 2008;71(2):855-73.
2007: Makiko Yasuda; Maciej E Domaradzki; Donna Armentano; Seng Cheng; David F Bishop; Robert J Desnick
Acute intermittent porphyria: vector optimization for gene therapy.
The journal of gene medicine 2007;9(9):806-11.
2006: David F Bishop; Annika Johansson; Robert Phelps; Amr A Shady; Maria Celeste M Ramirez; Makiko Yasuda; Andres Caro; Robert J Desnick
Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions.
American journal of human genetics 2006;78(4):645-58.
2005: Pokman Chan; Javier Gonzalez-Maeso; Frederique Ruf; David F Bishop; Patrick R Hof; Stuart C Sealfon
Epsilon-sarcoglycan immunoreactivity and mRNA expression in mouse brain.
The Journal of comparative neurology 2005;482(1):50-73.
2004: Constanza Solis; Antonio Martinez-Bermejo; Thomas P Naidich; Walter E Kaufmann; Kenneth H Astrin; David F Bishop; Robert J Desnick
Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias.
Archives of neurology 2004;61(11):1764-70.
2003: Soumeya Bekri; Alison May; Philip D Cotter; Ala I Al-Sabah; Xiaojun Guo; Gillian S Masters; David F Bishop
A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia.
Blood 2003;102(2):698-704.
2002: Amr A Shady; Brandon R Colby; Luis F Cunha; Kenneth H Astrin; David F Bishop; Robert J Desnick
Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene.
British journal of haematology 2002;117(4):980-7.
2001: Constanza Solis; GI Aizencang; Kenneth H Astrin; David F Bishop; Robert J Desnick
Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria.
The Journal of clinical investigation 2001;107(6):753-62.
2000: GI Aizencang; Constanza Solis; David F Bishop; C Warner; Robert J Desnick
Human uroporphyrinogen-III synthase: genomic organization, alternative promoters, and erythroid-specific expression.
Genomics 2000;70(2):223-31.
2000: Soumeya Bekri; Gyula Kispal; H Lange; E Fitzsimons; J Tolmie; R Lill; David F Bishop
Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation.
Blood 2000;96(9):3256-64.
2000: GI Aizencang; David F Bishop; D Forrest; Kenneth H Astrin; Robert J Desnick
Uroporphyrinogen III synthase. An alternative promoter controls erythroid-specific expression in the murine gene.
The Journal of biological chemistry 2000;275(4):2295-304.
1999: Philip D Cotter; A May; L Li; A I Al-Sabah; E J Fitzsimons; M Cazzola; David F Bishop
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.
Blood 1999;93(5):1757-69.
1997: T F Fitzmaurice; Robert J Desnick; David F Bishop
Human alpha-galactosidase A: high plasma activity expressed by the -30G-->A allele.
Journal of inherited metabolic disease 1997;20(5):643-57.
1996: R W Gotlib; David F Bishop; A M Wang; KM Zeidner; Yiannis A Ioannou; D A Adler; C M Disteche; Robert J Desnick
The entire genomic sequence and cDNA expression of mouse alpha-galactosidase A.
Biochemical and molecular medicine 1996;57(2):139-48.
1995: Philip D Cotter; A May; E J Fitzsimons; T Houston; B E Woodcock; A I al-Sabah; L Wong; David F Bishop
Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts.
The Journal of clinical investigation 1995;96(4):2090-6.
1995: S S Bottomley; Brian K May; Timothy C Cox; Philip D Cotter; David F Bishop
Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia.
Journal of bioenergetics and biomembranes 1995;27(2):161-8.
1995: Philip D Cotter; Harry A Drabkin; T Varkony; David I Smith; David F Bishop
Assignment of the human housekeeping delta-aminolevulinate synthase gene (ALAS1) to chromosome band 3p21.1 by PCR analysis of somatic cell hybrids.
Cytogenetics and cell genetics 1995;69(3-4):207-8.
1994: Philip D Cotter; D L Rucknagel; David F Bishop
X-linked sideroblastic anemia: identification of the mutation in the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) in the original family described by Cooley.
Blood 1994;84(11):3915-24.
1994: P E Jardine; Philip D Cotter; S A Johnson; E J Fitzsimons; Linda Tyfield; PW Lunt; David F Bishop
Pyridoxine-refractory congenital sideroblastic anaemia with evidence for autosomal inheritance: exclusion of linkage to ALAS2 at Xp11.21 by polymorphism analysis.
Journal of medical genetics 1994;31(3):213-8.
1992: Yiannis A Ioannou; David F Bishop; Robert J Desnick
Overexpression of human alpha-galactosidase A results in its intracellular aggregation, crystallization in lysosomes, and selective secretion.
The Journal of cell biology 1992;119(5):1137-50.
1992: Philip D Cotter; H F Willard; J L Gorski; David F Bishop
Assignment of human erythroid delta-aminolevulinate synthase (ALAS2) to a distal subregion of band Xp11.21 by PCR analysis of somatic cell hybrids containing X; autosome translocations.
Genomics 1992;13(1):211-2.
1992: Philip D Cotter; M Baumann; David F Bishop
Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency.
Proceedings of the National Academy of Sciences of the United States of America 1992;89(9):4028-32.
1992: H Sakuraba; Christine M Eng; Robert J Desnick; David F Bishop
Invariant exon skipping in the human alpha-galactosidase A pre-mRNA: Ag+1 to t substitution in a 5'-splice site causing Fabry disease.
Genomics 1992;12(4):643-50.
1991: W von Scheidt; Christine M Eng; T F Fitzmaurice; E Erdmann; G Hübner; E G Olsen; H Christomanou; R Kandolf; David F Bishop; Robert J Desnick
An atypical variant of Fabry's disease with manifestations confined to the myocardium.
The New England journal of medicine 1991;324(6):395-9.
1990: A M Wang; David F Bishop; Robert J Desnick
Human alpha-N-acetylgalactosaminidase-molecular cloning, nucleotide sequence, and expression of a full-length cDNA. Homology with human alpha-galactosidase A suggests evolution from a common ancestral gene.
The Journal of biological chemistry 1990;265(35):21859-66.
1990: David F Bishop
Two different genes encode delta-aminolevulinate synthase in humans: nucleotide sequences of cDNAs for the housekeeping and erythroid genes.
Nucleic acids research 1990;18(23):7187-8.
1990: R Kornreich; David F Bishop; Robert J Desnick
Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene.
The Journal of biological chemistry 1990;265(16):9319-26.
1990: David F Bishop; A S Henderson; Kenneth H Astrin
Human delta-aminolevulinate synthase: assignment of the housekeeping gene to 3p21 and the erythroid-specific gene to the X chromosome.
Genomics 1990;7(2):207-14.
1989: D Schindler; David F Bishop; D E Wolfe; A M Wang; H Egge; R U Lemieux; Robert J Desnick
Neuroaxonal dystrophy due to lysosomal alpha-N-acetylgalactosaminidase deficiency.
The New England journal of medicine 1989;320(26):1735-40.
1989: R Kornreich; Robert J Desnick; David F Bishop
Nucleotide sequence of the human alpha-galactosidase A gene.
Nucleic acids research 1989;17(8):3301-2.
1989: H S Bernstein; David F Bishop; Kenneth H Astrin; R Kornreich; Christine M Eng; H Sakuraba; Robert J Desnick
Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.
The Journal of clinical investigation 1989;83(4):1390-9.
1989: Robert J Desnick; Kenneth H Astrin; David F Bishop
Fabry disease: molecular genetics of the inherited nephropathy.
Advances in nephrology from the Necker Hospital 1989;18():113-27.
1989: R Kornreich; David F Bishop; Robert J Desnick
The gene encoding alpha-galactosidase A and gene rearrangements causing Fabry disease.
Transactions of the Association of American Physicians 1989;102():30-43.
1988: S F Tsai; David F Bishop; Robert J Desnick
Human uroporphyrinogen III synthase: molecular cloning, nucleotide sequence, and expression of a full-length cDNA.
Proceedings of the National Academy of Sciences of the United States of America 1988;85(19):7049-53.
1988: David F Bishop; R Kornreich; Robert J Desnick
Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region.
Proceedings of the National Academy of Sciences of the United States of America 1988;85(11):3903-7.
1987: S F Tsai; David F Bishop; Robert J Desnick
Coupled-enzyme and direct assays for uroporphyrinogen III synthase activity in human erythrocytes and cultured lymphoblasts. Enzymatic diagnosis of heterozygotes and homozygotes with congenital erythropoietic porphyria.
Analytical biochemistry 1987;166(1):120-33.
1987: V R Potluri; Kenneth H Astrin; James G Wetmur; David F Bishop; R J Desnick
Human delta-aminolevulinate dehydratase: chromosomal localization to 9q34 by in situ hybridization.
Human genetics 1987;76(3):236-9.
1987: S F Tsai; David F Bishop; Robert J Desnick
Purification and properties of uroporphyrinogen III synthase from human erythrocytes.
The Journal of biological chemistry 1987;262(3):1268-73.
1987: Kenneth H Astrin; David F Bishop; James G Wetmur; B Kaul; B Davidow; Robert J Desnick
delta-Aminolevulinic acid dehydratase isozymes and lead toxicity.
Annals of the New York Academy of Sciences 1987;514():23-9.
1987: Robert J Desnick; H S Bernstein; Kenneth H Astrin; David F Bishop
Fabry disease: molecular diagnosis of hemizygotes and heterozygotes.
Enzyme 1987;38(1-4):54-64.
1986: James G Wetmur; David F Bishop; C Cantelmo; R J Desnick
Human delta-aminolevulinate dehydratase: nucleotide sequence of a full-length cDNA clone.
Proceedings of the National Academy of Sciences of the United States of America 1986;83(20):7703-7.
1986: David F Bishop; D H Calhoun; H S Bernstein; P Hantzopoulos; M Quinn; Robert J Desnick
Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme.
Proceedings of the National Academy of Sciences of the United States of America 1986;83(13):4859-63.
1986: James G Wetmur; David F Bishop; L Ostasiewicz; R J Desnick
Molecular cloning of a cDNA for human delta-aminolevulinate dehydratase.
Gene 1986;43(1-2):123-30.
1985: D H Calhoun; David F Bishop; H S Bernstein; M Quinn; P Hantzopoulos; Robert J Desnick
Fabry disease: isolation of a cDNA clone encoding human alpha-galactosidase A.
Proceedings of the National Academy of Sciences of the United States of America 1985;82(21):7364-8.