Publications by authors named "David F Bishop"

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Human aminolevulinate synthase structure reveals a eukaryotic-specific autoinhibitory loop regulating substrate binding and product release.
Henry J Bailey, Gustavo A Bezerra, Jason R Marcero, Siladitya Padhi, William R Foster, David F Bishop

Nat Commun· June 2020

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X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation.
Vijay G Sankaran, Jacob C Ulirsch, Vassili Tchaikovskii, Leif S Ludwig, Aoi Wakabayashi, David F Bishop

J Clin Invest· January 2020

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Design and validation of an open-source modular Microplate Photoirradiation System for high-throughput photobiology experiments.
Suzanna Katz, Peter Backeris, Christopher Merck, Maria Suprun, Sunita D'Souza, David F Bishop

PLoS One· March 2019

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Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants.
Vassili Tchaikovskii, Robert J Desnick, David F Bishop

Mol Med· January 2019

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X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation.
Vijay G Sankaran, Jacob C Ulirsch, Vassili Tchaikovskii, Leif S Ludwig, Aoi Wakabayashi, David F Bishop

J Clin Invest· April 2015

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Diagnosis of feline acute intermittent porphyria presenting with erythrodontia requires molecular analyses.
Sonia Clavero, Yuri Ahuja, David F Bishop, Brittany Kwait, Mark E Haskins

Vet J· December 2013

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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.
Manisha Balwani, Dana Doheny, David F Bishop, Irina Nazarenko, Makiko Yasuda

Mol Med· April 2013

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Molecular expression and characterization of erythroid-specific 5-aminolevulinate synthase gain-of-function mutations causing X-linked protoporphyria.
David F Bishop, Vassili Tchaikovskii, Irina Nazarenko, Robert J Desnick

Mol Med· March 2013

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X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the β-subunit of succinyl-CoA synthetase (SUCLA2).
David F Bishop, Vassili Tchaikovskii, A Victor Hoffbrand, Marie E Fraser, Steven Margolis

J Biol Chem· August 2012

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Primate genome gain and loss: a bone dysplasia, muscular dystrophy, and bone cancer syndrome resulting from mutated retroviral-derived MTAP transcripts.
Olga Camacho-Vanegas, Sandra Catalina Camacho, Jacob Till, Irene Miranda-Lorenzo, Esteban Terzo, David F Bishop

Am J Hum Genet· April 2012

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Congenital erythropoietic porphyria: characterization of murine models of the severe common (C73R/C73R) and later-onset genotypes.
David F Bishop, Sonia Clavero, Narla Mohandas, Robert J Desnick

Mol Med· December 2011

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Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R.
Alev Hasanoglu, Manisha Balwani, Ciğdem S Kasapkara, Fatih S Ezgü, Ilyas Okur, David F Bishop

J Inherit Metab Dis· February 2011

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Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation.
Sonia Clavero, David F Bishop, Urs Giger, Mark E Haskins, Robert J Desnick

Mol Med· December 2010

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Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations.
Sonia Clavero, David F Bishop, Mark E Haskins, Urs Giger, Raili Kauppinen

Hum Mol Genet· February 2010

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Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts.
David F Bishop, Xiaoye Schneider-Yin, Sonia Clavero, Han-Wook Yoo, Elisabeth I Minder

Blood· February 2010

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AAV8-mediated gene therapy prevents induced biochemical attacks of acute intermittent porphyria and improves neuromotor function.
Makiko Yasuda, David F Bishop, Mary Fowkes, Seng H Cheng, Lin Gan

Mol Ther· January 2010

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Sequences of polycythemia-type Friend spleen focus-forming virus in clone-745-derived mouse erythroleukemia cells.
William Scher, Yongkui Jing, Min Lu, David F Bishop, Barbara M Scher

Arch Virol· May 2009

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Human uroporphyrinogen III synthase: NMR-based mapping of the active site.
Luis Cunha, Miklos Kuti, David F Bishop, Mihaly Mezei, Lei Zeng

Proteins· May 2008

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Acute intermittent porphyria: vector optimization for gene therapy.
Makiko Yasuda, Maciej E Domaradzki, Donna Armentano, Seng H Cheng, David F Bishop

J Gene Med· September 2007

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Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions.
David F Bishop, Annika Johansson, Robert Phelps, Amr A Shady, Maria C M Ramirez

Am J Hum Genet· April 2006

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Epsilon-sarcoglycan immunoreactivity and mRNA expression in mouse brain.
Pokman Chan, Javier Gonzalez-Maeso, Frédérique Ruf, David F Bishop, Patrick R Hof

J Comp Neurol· January 2005

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Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias.
Constanza Solis, Antonio Martinez-Bermejo, Thomas P Naidich, Walter E Kaufmann, Kenneth H Astrin, David F Bishop

Arch Neurol· November 2004

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A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia.
Soumeya Bekri, Alison May, Philip D Cotter, Ala I Al-Sabah, Xiaojun Guo, David F Bishop

Blood· July 2003

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Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation.
Mario Cazzola, Alison May, Gaetano Bergamaschi, Paola Cerani, Sara Ferrillo, David F Bishop

Blood· December 2002

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Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene.
Amr A Shady, Brandon R Colby, Luis F Cunha, Kenneth H Astrin, David F Bishop

Br J Haematol· June 2002

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