Hermansky–Pudlak syndrome: Mutation update
Huizing, Marjan, Malicdan, May C. V., Wang, Jennifer A., Pri‐Chen, Hadass, Hess, Richard A., Fischer, Roxanne, O'Brien, Kevin J., Merideth, Melissa A., Gahl, William A., Gochuico, Bernadette R.
Published in Human mutation (01.03.2020)
Published in Human mutation (01.03.2020)
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Journal Article
Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome
Li, Chong, Brazill, Jennifer M, Liu, Sha, Bello, Christofer, Zhu, Yi, Morimoto, Marie, Cascio, Lauren, Pauly, Rini, Diaz-Perez, Zoraida, Malicdan, May Christine V, Wang, Hongbo, Boccuto, Luigi, Schwartz, Charles E, Gahl, William A, Boerkoel, Cornelius F, Zhai, R Grace
Published in Nature communications (02.11.2017)
Published in Nature communications (02.11.2017)
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Journal Article
ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13
Zhang, Yihan, Huang, Haigen, Zhao, Gexin, Yokoyama, Tadafumi, Vega, Hugo, Huang, Yan, Sood, Raman, Bishop, Kevin, Maduro, Valerie, Accardi, John, Toro, Camilo, Boerkoel, Cornelius F, Lyons, Karen, Gahl, William A, Duan, Xiaohong, Malicdan, May Christine V, Lin, Shuo
Published in PLoS genetics (03.02.2017)
Published in PLoS genetics (03.02.2017)
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Journal Article
Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease
Beck, David B, Ferrada, Marcela A, Sikora, Keith A, Ombrello, Amanda K, Collins, Jason C, Pei, Wuhong, Balanda, Nicholas, Ross, Daron L, Ospina Cardona, Daniela, Wu, Zhijie, Patel, Bhavisha, Manthiram, Kalpana, Groarke, Emma M, Gutierrez-Rodrigues, Fernanda, Hoffmann, Patrycja, Rosenzweig, Sofia, Nakabo, Shuichiro, Dillon, Laura W, Hourigan, Christopher S, Tsai, Wanxia L, Gupta, Sarthak, Carmona-Rivera, Carmelo, Asmar, Anthony J, Xu, Lisha, Oda, Hirotsugu, Goodspeed, Wendy, Barron, Karyl S, Nehrebecky, Michele, Jones, Anne, Laird, Ryan S, Deuitch, Natalie, Rowczenio, Dorota, Rominger, Emily, Wells, Kristina V, Lee, Chyi-Chia R, Wang, Weixin, Trick, Megan, Mullikin, James, Wigerblad, Gustaf, Brooks, Stephen, Dell’Orso, Stefania, Deng, Zuoming, Chae, Jae J, Dulau-Florea, Alina, Malicdan, May C.V, Novacic, Danica, Colbert, Robert A, Kaplan, Mariana J, Gadina, Massimo, Savic, Sinisa, Lachmann, Helen J, Abu-Asab, Mones, Solomon, Benjamin D, Retterer, Kyle, Gahl, William A, Burgess, Shawn M, Aksentijevich, Ivona, Young, Neal S, Calvo, Katherine R, Werner, Achim, Kastner, Daniel L, Grayson, Peter C
Published in The New England journal of medicine (31.12.2020)
Published in The New England journal of medicine (31.12.2020)
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Journal Article
Hermansky-Pudlak syndrome: Gene therapy for pulmonary fibrosis
Nieto-Alamilla, Gustavo, Behan, Molly, Hossain, Mahin, Gochuico, Bernadette R., Malicdan, May Christine V.
Published in Molecular genetics and metabolism (01.09.2022)
Published in Molecular genetics and metabolism (01.09.2022)
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Journal Article
LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size
Serra-Vinardell, Jenny, Sandler, Maxwell B., De Pace, Raffaella, Manzella-Lapeira, Javier, Cougnoux, Antony, Keyvanfar, Keyvan, Introne, Wendy J., Brzostowski, Joseph A., Ward, Michael E., Gahl, William A., Sharma, Prashant, Malicdan, May Christine V.
Published in Cellular and molecular life sciences : CMLS (01.02.2023)
Published in Cellular and molecular life sciences : CMLS (01.02.2023)
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Journal Article
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature
Morimoto, Marie, Nicoli, Elena-Raluca, Kuptanon, Chulaluck, Roney, Joseph C, Serra-Vinardell, Jenny, Sharma, Prashant, Adams, David R, Gallin, John I, Holland, Steven M, Rosenzweig, Sergio D, Barbot, Jose, Ciccone, Carla, Huizing, Marjan, Toro, Camilo, Gahl, William A, Introne, Wendy J, Malicdan, May Christine V
Published in Journal of medical genetics (01.03.2024)
Published in Journal of medical genetics (01.03.2024)
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Journal Article
Automated, high-throughput derivation, characterization and differentiation of induced pluripotent stem cells
Paull, Daniel, Sevilla, Ana, Zhou, Hongyan, Hahn, Aana Kim, Kim, Hesed, Napolitano, Christopher, Tsankov, Alexander, Shang, Linshan, Krumholz, Katie, Jagadeesan, Premlatha, Woodard, Chris M, Sun, Bruce, Vilboux, Thierry, Zimmer, Matthew, Forero, Eliana, Moroziewicz, Dorota N, Martinez, Hector, Malicdan, May Christine V, Weiss, Keren A, Vensand, Lauren B, Dusenberry, Carmen R, Polus, Hannah, Sy, Karla Therese L, Kahler, David J, Gahl, William A, Solomon, Susan L, Chang, Stephen, Meissner, Alexander, Eggan, Kevin, Noggle, Scott A
Published in Nature methods (01.09.2015)
Published in Nature methods (01.09.2015)
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Journal Article
Galnt11 regulates kidney function by glycosylating the endocytosis receptor megalin to modulate ligand binding
Tian, E., Wang, Shengjun, Zhang, Liping, Zhang, Ying, Malicdan, May C., Mao, Yang, Christoffersen, Christina, Tabak, Lawrence A., Schjoldager, Katrine T., Hagen, Kelly G. Ten
Published in Proceedings of the National Academy of Sciences - PNAS (10.12.2019)
Published in Proceedings of the National Academy of Sciences - PNAS (10.12.2019)
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Journal Article
Autophagy in Lysosomal Myopathies
Malicdan, May Christine V., Nishino, Ichizo
Published in Brain pathology (Zurich, Switzerland) (01.01.2012)
Published in Brain pathology (Zurich, Switzerland) (01.01.2012)
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Journal Article
Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study
Carrillo, Nuria, Malicdan, May C, Leoyklang, Petcharat, Shrader, Joseph A, Joe, Galen, Slota, Christina, Perreault, John, Heiss, John D, Class, Bradley, Liu, Chia-Ying, Bradley, Kennan, Jodarski, Colleen, Ciccone, Carla, Driscoll, Claire, Parks, Rebecca, Van Wart, Scott, Bayman, Levent, Coffey, Christopher S, Quintana, Melanie, Berry, Scott M, Huizing, Marjan, Gahl, William A
Published in Genetics in medicine (01.11.2021)
Published in Genetics in medicine (01.11.2021)
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Journal Article
Bleomycin Induces Drug Efflux in Lungs. A Pitfall for Pharmacological Studies of Pulmonary Fibrosis
Park, Joshua K, Coffey, Nathan J, Bodine, Steven P, Zawatsky, Charles N, Jay, Lindsey, Gahl, William A, Kunos, George, Gochuico, Bernadette R, Malicdan, May Christine V, Cinar, Resat
Published in American journal of respiratory cell and molecular biology (01.02.2020)
Published in American journal of respiratory cell and molecular biology (01.02.2020)
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Journal Article
Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program
Montano, Carolina, Cassini, Thomas, Ziegler, Shira G., Boehm, Manfred, Nicoli, Elena‐Raluca, Mindell, Joseph A., Soldatos, Ariane G., Manoli, Irini, Wolfe, Lynne, Macnamara, Ellen F., Malicdan, May Christine V., Adams, David R., Tifft, Cynthia J., Toro, Camilo, Gahl, William A.
Published in Journal of inherited metabolic disease (01.09.2022)
Published in Journal of inherited metabolic disease (01.09.2022)
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Journal Article
Chediak-Higashi syndrome
Talbert, Mackenzie L, Malicdan, May Christine V, Introne, Wendy J
Published in Current opinion in hematology (01.07.2023)
Published in Current opinion in hematology (01.07.2023)
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Journal Article
Early infantile‐onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy
Davids, Mariska, Markello, Thomas, Wolfe, Lynne A., Chepa‐Lotrea, Xenia, Tifft, Cynthia J., Gahl, William A., Malicdan, May Christine V.
Published in Human mutation (01.01.2019)
Published in Human mutation (01.01.2019)
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Journal Article
A Congenital Neutrophil Defect Syndrome Associated with Mutations in VPS45
Vilboux, Thierry, Lev, Atar, Malicdan, May Christine V, Simon, Amos J, Järvinen, Päivi, Racek, Tomas, Puchalka, Jacek, Sood, Raman, Carrington, Blake, Bishop, Kevin, Mullikin, James, Huizing, Marjan, Garty, Ben Zion, Eyal, Eran, Wolach, Baruch, Gavrieli, Ronit, Toren, Amos, Soudack, Michalle, Atawneh, Osama M, Babushkin, Tatiana, Schiby, Ginette, Cullinane, Andrew, Avivi, Camila, Polak-Charcon, Sylvie, Barshack, Iris, Amariglio, Ninette, Rechavi, Gideon, van der Werff ten Bosch, Jutte, Anikster, Yair, Klein, Christoph, Gahl, William A, Somech, Raz
Published in The New England journal of medicine (04.07.2013)
Published in The New England journal of medicine (04.07.2013)
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Journal Article
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center
Vilboux, Thierry, Doherty, Daniel A, Glass, Ian A, Parisi, Melissa A, Phelps, Ian G, Cullinane, Andrew R, Zein, Wadih, Brooks, Brian P, Heller, Theo, Soldatos, Ariane, Oden, Neal L, Yildirimli, Deniz, Vemulapalli, Meghana, Mullikin, James C, Nisc Comparative Sequencing Program, Malicdan, May Christine V, Gahl, William A, Gunay-Aygun, Meral
Published in Genetics in medicine (01.08.2017)
Published in Genetics in medicine (01.08.2017)
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Journal Article
yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development
Blanco-Sánchez, Bernardo, Clément, Aurélie, Stednitz, Sara J, Kyle, Jennifer, Peirce, Judy L, McFadden, Marcie, Wegner, Jeremy, Phillips, Jennifer B, Macnamara, Ellen, Huang, Yan, Adams, David R, Toro, Camilo, Gahl, William A, Malicdan, May Christine V, Tifft, Cynthia J, Zink, Erika M, Bloodsworth, Kent J, Stratton, Kelly G, Koeller, David M, Metz, Thomas O, Washbourne, Philip, Westerfield, Monte
Published in PLoS genetics (01.06.2020)
Published in PLoS genetics (01.06.2020)
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