Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants
Tchaikovskii, Vassili, Desnick, Robert J, Bishop, David F
Published in Molecular medicine (Cambridge, Mass.) (24.01.2019)
Published in Molecular medicine (Cambridge, Mass.) (24.01.2019)
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Human aminolevulinate synthase structure reveals a eukaryotic-specific autoinhibitory loop regulating substrate binding and product release
Bailey, Henry J, Bezerra, Gustavo A, Marcero, Jason R, Padhi, Siladitya, Foster, William R, Rembeza, Elzbieta, Roy, Arijit, Bishop, David F, Desnick, Robert J, Bulusu, Gopalakrishnan, Dailey, Jr, Harry A, Yue, Wyatt W
Published in Nature communications (04.06.2020)
Published in Nature communications (04.06.2020)
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Design and validation of an open-source modular Microplate Photoirradiation System for high-throughput photobiology experiments
Katz, Suzanna, Backeris, Peter, Merck, Christopher, Suprun, Maria, D'Souza, Sunita, Bishop, David F, Desnick, Robert J, Moore, Kateri, Ubarretxena-Belandia, Iban, Lemischka, Ihor R
Published in PloS one (05.10.2018)
Published in PloS one (05.10.2018)
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Molecular expression and characterization of erythroid-specific 5-aminolevulinate synthase gain-of-function mutations causing X-linked protoporphyria
Bishop, David F, Tchaikovskii, Vassili, Nazarenko, Irina, Desnick, Robert J
Published in Molecular medicine (Cambridge, Mass.) (01.01.2013)
Published in Molecular medicine (Cambridge, Mass.) (01.01.2013)
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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
Balwani, Manisha, Doheny, Dana, Bishop, David F, Nazarenko, Irina, Yasuda, Makiko, Dailey, Harry A, Anderson, Karl E, Bissell, D Montgomery, Bloomer, Joseph, Bonkovsky, Herbert L, Phillips, John D, Liu, Lawrence, Desnick, Robert J
Published in Molecular medicine (Cambridge, Mass.) (01.01.2013)
Published in Molecular medicine (Cambridge, Mass.) (01.01.2013)
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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
Camacho-Vanegas, Olga, Camacho, Sandra Catalina, Till, Jacob, Miranda-Lorenzo, Irene, Terzo, Esteban, Ramirez, Maria Celeste, Schramm, Vern, Cordovano, Grace, Watts, Giles, Mehta, Sarju, Kimonis, Virginia, Hoch, Benjamin, Philibert, Keith D., Raabe, Carsten A., Bishop, David F., Glucksman, Marc J., Martignetti, John A.
Published in American journal of human genetics (06.04.2012)
Published in American journal of human genetics (06.04.2012)
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Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R
Hasanoglu, Alev, Balwani, Manisha, Kasapkara, Çiğdem S, Ezgü, Fatih S, Okur, İlyas, Tümer, Leyla, Çakmak, Alpay, Nazarenko, Irina, Yu, Chunli, Clavero, Sonia, Bishop, David F, Desnick, Robert J
Published in Journal of inherited metabolic disease (01.02.2011)
Published in Journal of inherited metabolic disease (01.02.2011)
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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)
Bishop, David F., Tchaikovskii, Vassili, Hoffbrand, A.Victor, Fraser, Marie E., Margolis, Steven
Published in The Journal of biological chemistry (17.08.2012)
Published in The Journal of biological chemistry (17.08.2012)
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A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia
Bekri, Soumeya, May, Alison, Cotter, Philip D., Al-Sabah, Ala I., Guo, Xiaojun, Masters, Gillian S., Bishop, David F.
Published in Blood (15.07.2003)
Published in Blood (15.07.2003)
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X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation
Sankaran, Vijay G, Ulirsch, Jacob C, Tchaikovskii, Vassili, Ludwig, Leif S, Wakabayashi, Aoi, Kadirvel, Senkottuvelan, Lindsley, R Coleman, Bejar, Rafael, Shi, Jiahai, Lovitch, Scott B, Bishop, David F, Steensma, David P
Published in The Journal of clinical investigation (01.04.2015)
Published in The Journal of clinical investigation (01.04.2015)
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Journal Article
X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation
Sankaran, Vijay G, Ulirsch, Jacob C, Tchaikovskii, Vassili, Ludwig, Leif S, Wakabayashi, Aoi, Kadirvel, Senkottuvelan, Lindsley, R Coleman, Bejar, Rafael, Shi, Jiahai, Lovitch, Scott B, Bishop, David F, Steensma, David P
Published in The Journal of clinical investigation (02.01.2020)
Published in The Journal of clinical investigation (02.01.2020)
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Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations
Clavero, Sonia, Bishop, David F., Haskins, Mark E., Giger, Urs, Kauppinen, Raili, Desnick, Robert J.
Published in Human molecular genetics (15.02.2010)
Published in Human molecular genetics (15.02.2010)
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Diagnosis of feline acute intermittent porphyria presenting with erythrodontia requires molecular analyses
Clavero, Sonia, Ahuja, Yuri, Bishop, David F., Kwait, Brittany, Haskins, Mark E., Giger, Urs, Desnick, Robert J.
Published in The veterinary journal (1997) (01.12.2013)
Published in The veterinary journal (1997) (01.12.2013)
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Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation
Bekri, Soumeya, Kispal, Gyula, Lange, Heike, Fitzsimons, Edward, Tolmie, John, Lill, Roland, Bishop, David F.
Published in Blood (01.11.2000)
Published in Blood (01.11.2000)
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Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation
Clavero, Sonia, Bishop, David F, Giger, Urs, Haskins, Mark E, Desnick, Robert J
Published in Molecular medicine (Cambridge, Mass.) (01.09.2010)
Published in Molecular medicine (Cambridge, Mass.) (01.09.2010)
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Journal Article
Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts
Bishop, David F., Schneider-Yin, Xiaoye, Clavero, Sonia, Yoo, Han-Wook, Minder, Elisabeth I., Desnick, Robert J.
Published in Blood (04.02.2010)
Published in Blood (04.02.2010)
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