Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants

le Tchaikovskii, Vassili, Desnick, Robert J., Bishop, David F.
Foilsithe in Mol Med (2019)

Congenital Erythropoietic Porphyria: Characterization of Murine Models of the Severe Common (C73R/C73R) and Later-Onset Genotypes

le Bishop, David F, Clavero, Sonia, Mohandas, Narla, Desnick, Robert J
Foilsithe 2011

Molecular Expression and Characterization of Erythroid-Specific 5-Aminolevulinate Synthase Gain-of-Function Mutations Causing X-Linked Protoporphyria

le Bishop, David F, Tchaikovskii, Vassili, Nazarenko, Irina, Desnick, Robert J
Foilsithe 2013

Feline Congenital Erythropoietic Porphyria: Two Homozygous UROS Missense Mutations Cause the Enzyme Deficiency and Porphyrin Accumulation

le Clavero, Sonia, Bishop, David F, Giger, Urs, Haskins, Mark E, Desnick, Robert J
Foilsithe 2010

X-linked Sideroblastic Anemia Due to Carboxyl-terminal ALAS2 Mutations That Cause Loss of Binding to the β-Subunit of Succinyl-CoA Synthetase (SUCLA2)

le Bishop, David F., Tchaikovskii, Vassili, Hoffbrand, A. Victor, Fraser, Marie E., Margolis, Steven
Foilsithe 2012

Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria

le Solis, Constanza, Aizencang, Gerardo I., Astrin, Kenneth H., Bishop, David F., Desnick, Robert J.
Foilsithe 2001

Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations

le Clavero, Sonia, Bishop, David F., Haskins, Mark E., Giger, Urs, Kauppinen, Raili, Desnick, Robert J.
Foilsithe 2010

AAV8-mediated Gene Therapy Prevents Induced Biochemical Attacks of Acute Intermittent Porphyria and Improves Neuromotor Function

le Yasuda, Makiko, Bishop, David F, Fowkes, Mary, Cheng, Seng H, Gan, Lin, Desnick, Robert J
Foilsithe 2009

Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts

le Bishop, David F., Schneider-Yin, Xiaoye, Clavero, Sonia, Yoo, Han-Wook, Minder, Elisabeth I., Desnick, Robert J.
Foilsithe 2010

Diagnosis of feline acute intermittent porphyria presenting with erythrodontia requires molecular analyses

le Clavero, Sonia, Ahuja, Yuri, Bishop, David F., Kwait, Brittany, Haskins, Mark E., Giger, Urs, Desnick, Robert J.
Foilsithe 2013

Uroporphyrinogen III Synthase Knock-In Mice Have the Human Congenital Erythropoietic Porphyria Phenotype, Including the Characteristic Light-Induced Cutaneous Lesions

le Bishop, David F., Johansson, Annika, Phelps, Robert, Shady, Amr A., Ramirez, Maria C. M., Yasuda, Makiko, Caro, Andres, Desnick, Robert J.
Foilsithe 2006

Design and validation of an open-source modular Microplate Photoirradiation System for high-throughput photobiology experiments

le 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.
Foilsithe in PLoS One (2018)

X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation

le 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.
Foilsithe in J Clin Invest (2015)

X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation

le 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.
Foilsithe in J Clin Invest (2020)

Human aminolevulinate synthase structure reveals a eukaryotic-specific autoinhibitory loop regulating substrate binding and product release

le 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, Harry A., Yue, Wyatt W.
Foilsithe in Nat Commun (2020)

Loss-of-Function Ferrochelatase and Gain-of-Function Erythroid-Specific 5-Aminolevulinate Synthase Mutations Causing Erythropoietic Protoporphyria and X-Linked Protoporphyria in No...

le 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
Foilsithe 2013

Primate Genome Gain and Loss: A Bone Dysplasia, Muscular Dystrophy, and Bone Cancer Syndrome Resulting from Mutated Retroviral-Derived MTAP Transcripts

le 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.
Foilsithe 2012