Pain in acute hepatic porphyrias: Updates on pathophysiology and management

by Mohamed Kazamel, Elena Pischik, Robert J. Desnick
Published 2022-11-01

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

by Vassili Tchaikovskii, Robert J. Desnick, David F. Bishop
Published 2019-01-01

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

by David F. Bishop, Vassili Tchaikovskii, Irina Nazarenko, Robert J. Desnick
Published 2013-01-01

Phased Haplotype Resolution of the <i>SLC6A4</i> Promoter Using Long-Read Single Molecule Real-Time (SMRT) Sequencing

by Mariana R. Botton, Yao Yang, Erick R. Scott, Robert J. Desnick, Stuart A. Scott
Published 2020-11-01

Cimetidine Does Not Inhibit 5-Aminolevulinic Acid Synthase or Heme Oxygenase Activity: Implications for Treatment of Acute Intermittent Porphyria and Erythropoietic Protoporphyria

by Makiko Yasuda, Sangmi Lee, Lin Gan, Hector A. Bergonia, Robert J. Desnick, John D. Phillips
Published 2023-12-01

Parkinson's disease prevalence in Fabry disease: A survey study

by Adina H. Wise, Amy Yang, Hetanshi Naik, Chanan Stauffer, Natasha Zeid, Christopher Liong, Manisha Balwani, Robert J. Desnick, Roy N. Alcalay
Published 2018-03-01

A novel approach to conducting clinical trials in the community setting: utilizing patient-driven platforms and social media to drive web-based patient recruitment

by Janelle Applequist, Cristina Burroughs, Artemio Ramirez, Peter A. Merkel, Marc E. Rothenberg, Bruce Trapnell, Robert J. Desnick, Mustafa Sahin, Jeffrey P. Krischer
Published 2020-03-01

A pilot study of oral iron therapy in erythropoietic protoporphyria and X-linked protoporphyria

by Manisha Balwani, Hetanshi Naik, Jessica R. Overbey, Herbert L. Bonkovsky, D. Montgomery Bissell, Bruce Wang, John D. Phillips, Robert J. Desnick, Karl E. Anderson
Published 2022-12-01

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

by Suzanna Katz, Peter Backeris, Christopher Merck, Maria Suprun, Sunita D'Souza, David F Bishop, Robert J Desnick, Kateri Moore, Iban Ubarretxena-Belandia, Ihor R Lemischka
Published 2018-01-01

Evaluating quality of life tools in North American patients with erythropoietic protoporphyria and X‐linked protoporphyria

by Hetanshi Naik, Jessica R. Overbey, Robert J. Desnick, Karl E. Anderson, D. Montgomery Bissell, Joseph Bloomer, Herbert L. Bonkovsky, John D. Phillips, Bruce Wang, Ashwani Singal, Manisha Balwani
Published 2019-11-01

Severe hydroxymethylbilane synthase deficiency causes depression-like behavior and mitochondrial dysfunction in a mouse model of homozygous dominant acute intermittent porphyria

by Stefanie Berger, Miranda Stattmann, Ana Cicvaric, Francisco J. Monje, Pierluca Coiro, Matej Hotka, Gerda Ricken, Johannes Hainfellner, Susanne Greber-Platzer, Makiko Yasuda, Robert J. Desnick, Daniela D. Pollak
Published 2020-03-01

The D519G Polymorphism of Glyceronephosphate O-Acyltransferase Is a Risk Factor for Familial Porphyria Cutanea Tarda.

by Colin P Farrell, Jessica R Overbey, Hetanshi Naik, Danielle Nance, Gordon D McLaren, Christine E McLaren, Luming Zhou, Robert J Desnick, Charles J Parker, John D Phillips
Published 2016-01-01

Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases

by Befekadu Asfaw, Jana Ledvinová, Robert Dobrovolńy, Henk D. Bakker, Robert J. Desnick, Otto P. van Diggelen, Jan G.N. de Jong, Tamotsu Kanzaki, Amparo Chabas, Irene Maire, Ernst Conzelmann, Detlev Schindler
Published 2002-07-01

Substrate reduction augments the efficacy of enzyme therapy in a mouse model of Fabry disease.

by John Marshall, Karen M Ashe, Dinesh Bangari, KerryAnne McEachern, Wei-Lien Chuang, Joshua Pacheco, Diane P Copeland, Robert J Desnick, James A Shayman, Ronald K Scheule, Seng H Cheng
Published 2010-11-01

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

by Henry J. Bailey, Gustavo A. Bezerra, Jason R. Marcero, Siladitya Padhi, William R. Foster, Elzbieta Rembeza, Arijit Roy, David F. Bishop, Robert J. Desnick, Gopalakrishnan Bulusu, Harry A. Dailey, Wyatt W. Yue
Published 2020-06-01

Preclinical Development of a Subcutaneous ALAS1 RNAi Therapeutic for Treatment of Hepatic Porphyrias Using Circulating RNA Quantification

by Amy Chan, Abigail Liebow, Makiko Yasuda, Lin Gan, Tim Racie, Martin Maier, Satya Kuchimanchi, Don Foster, Stuart Milstein, Klaus Charisse, Alfica Sehgal, Muthiah Manoharan, Rachel Meyers, Kevin Fitzgerald, Amy Simon, Robert J Desnick, William Querbes
Published 2015-01-01

AAV2/6 Gene Therapy in a Murine Model of Fabry Disease Results in Supraphysiological Enzyme Activity and Effective Substrate Reduction

by Makiko Yasuda, Marshall W. Huston, Silvere Pagant, Lin Gan, Susan St. Martin, Scott Sproul, Daniel Richards, Stephen Ballaron, Khaled Hettini, Annemarie Ledeboer, Lillian Falese, Liching Cao, Yanmei Lu, Michael C. Holmes, Kathleen Meyer, Robert J. Desnick, Thomas Wechsler
Published 2020-09-01

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

by Manisha Balwani, Dana Doheny, David F. Bishop, Irina Nazarenko, Makiko Yasuda, Harry A. Dailey, Karl E. Anderson, D. Montgomery Bissell, Joseph Bloomer, Herbert L. Bonkovsky, John D. Phillips, Lawrence Liu, Robert J. Desnick, The Porphyrias Consortium of the National Institutes of Health Rare Diseases Clinical Research Network
Published 2013-01-01

A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.

by Eimear E Kenny, Itsik Pe'er, Amir Karban, Laurie Ozelius, Adele A Mitchell, Sok Meng Ng, Monica Erazo, Harry Ostrer, Clara Abraham, Maria T Abreu, Gil Atzmon, Nir Barzilai, Steven R Brant, Susan Bressman, Edward R Burns, Yehuda Chowers, Lorraine N Clark, Ariel Darvasi, Dana Doheny, Richard H Duerr, Rami Eliakim, Nir Giladi, Peter K Gregersen, Hakon Hakonarson, Michelle R Jones, Karen Marder, Dermot P B McGovern, Jennifer Mulle, Avi Orr-Urtreger, Deborah D Proctor, Ann Pulver, Jerome I Rotter, Mark S Silverberg, Thomas Ullman, Stephen T Warren, Matti Waterman, Wei Zhang, Aviv Bergman, Lloyd Mayer, Seymour Katz, Robert J Desnick, Judy H Cho, Inga Peter
Published 2012-01-01