Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach
Petersen-Jones, Simon M, Occelli, Laurence M, Winkler, Paige A, Lee, Winston, Sparrow, Janet R, Tsukikawa, Mai, Boye, Sanford L, Chiodo, Vince, Capasso, Jenina E, Becirovic, Elvir, Schön, Christian, Seeliger, Mathias W, Levin, Alex V, Michalakis, Stylianos, Hauswirth, William W, Tsang, Stephen H
Published in The Journal of clinical investigation (02.01.2018)
Published in The Journal of clinical investigation (02.01.2018)
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Journal Article
Inhibiting cytosolic translation and autophagy improves health in mitochondrial disease
Peng, Min, Ostrovsky, Julian, Kwon, Young Joon, Polyak, Erzsebet, Licata, Joseph, Tsukikawa, Mai, Marty, Eric, Thomas, Jeffrey, Felix, Carolyn A, Xiao, Rui, Zhang, Zhe, Gasser, David L, Argon, Yair, Falk, Marni J
Published in Human molecular genetics (01.09.2015)
Published in Human molecular genetics (01.09.2015)
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Journal Article
Irreversible Bilateral Cicatricial Keratoconjunctivitis after Dupilumab Therapy
Nguyen, Minh T., Tsukikawa, Mai, Lomazow, Whitney, Lee, Michele
Published in Case reports in ophthalmology (19.08.2022)
Published in Case reports in ophthalmology (19.08.2022)
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Journal Article
Primary respiratory chain disease causes tissue-specific dysregulation of the global transcriptome and nutrient-sensing signaling network
Zhang, Zhe, Tsukikawa, Mai, Peng, Min, Polyak, Erzsebet, Nakamaru-Ogiso, Eiko, Ostrovsky, Julian, McCormack, Shana, Place, Emily, Clarke, Colleen, Reiner, Gail, McCormick, Elizabeth, Rappaport, Eric, Haas, Richard, Baur, Joseph A, Falk, Marni J
Published in PloS one (24.07.2013)
Published in PloS one (24.07.2013)
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Journal Article
N-acetylcysteine and vitamin E rescue animal longevity and cellular oxidative stress in pre-clinical models of mitochondrial complex I disease
Polyak, Erzsebet, Ostrovsky, Julian, Peng, Min, Dingley, Stephen D., Tsukikawa, Mai, Kwon, Young Joon, McCormack, Shana E., Bennett, Michael, Xiao, Rui, Seiler, Christoph, Zhang, Zhe, Falk, Marni J.
Published in Molecular genetics and metabolism (01.04.2018)
Published in Molecular genetics and metabolism (01.04.2018)
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Journal Article
Incidence of and Risk Factors for Steroid Response After Cataract Surgery in Patients With and Without Glaucoma
Bojikian, Karine D, Nobrega, Priscilla, Roldan, Ashley, Forrest, Samantha L, Tsukikawa, Mai, Chen, Philip P
Published in Journal of glaucoma (01.04.2021)
Published in Journal of glaucoma (01.04.2021)
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Journal Article
Protein modeling and in silico analysis to assess pathogenicity of ABCA4 variants in patients with inherited retinal disease
Cevik, Senem, Wangtiraumnuay, Nutsuchar, Van Schelvergem, Kristof, Tsukikawa, Mai, Capasso, Jenina, Biswas, Subhasis B, Bodt, Barry, Levin, Alex V, Biswas-Fiss, Esther
Published in Molecular vision (2023)
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Published in Molecular vision (2023)
Journal Article
Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy
Gai, Xiaowu, Ghezzi, Daniele, Johnson, Mark A., Biagosch, Caroline A., Shamseldin, Hanan E., Haack, Tobias B., Reyes, Aurelio, Tsukikawa, Mai, Sheldon, Claire A., Srinivasan, Satish, Gorza, Matteo, Kremer, Laura S., Wieland, Thomas, Strom, Tim M., Polyak, Erzsebet, Place, Emily, Consugar, Mark, Ostrovsky, Julian, Vidoni, Sara, Robinson, Alan J., Wong, Lee-Jun, Sondheimer, Neal, Salih, Mustafa A., Al-Jishi, Emtethal, Raab, Christopher P., Bean, Charles, Furlan, Francesca, Parini, Rossella, Lamperti, Costanza, Mayr, Johannes A., Konstantopoulou, Vassiliki, Huemer, Martina, Pierce, Eric A., Meitinger, Thomas, Freisinger, Peter, Sperl, Wolfgang, Prokisch, Holger, Alkuraya, Fowzan S., Falk, Marni J., Zeviani, Massimo
Published in American journal of human genetics (05.09.2013)
Published in American journal of human genetics (05.09.2013)
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Journal Article
Adjuvant use of laser in eyes with macular retinoblastoma treated with primary intravenous chemotherapy
Stacey, Andrew W, Tsukikawa, Mai, Fabian, Ido Didi, Turner, Sarah, Jenkinson, Helen, Smith, Vicky, Naeem, Zishan, Morland, Bruce, Ainsworth, John R, Reddy, M Ashwin, Parulekar, Manoj, Sagoo, Mandeep S
Published in British journal of ophthalmology (01.11.2021)
Published in British journal of ophthalmology (01.11.2021)
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Journal Article
Novel ABCA4 mutation leads to loss of a conserved C-terminal motif: implications for predicting pathogenicity based on genetic testing
Wangtiraumnuay, Nutsuchar, Capasso, Jenina, Tsukikawa, Mai, Levin, Alex, Biswas-Fiss, Esther
Published in European journal of ophthalmology (01.01.2018)
Published in European journal of ophthalmology (01.01.2018)
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Journal Article
Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations
Wangtiraumnuay, Nutsuchar, Alnabi, Waleed Abed, Tsukikawa, Mai, Thau, Avrey, Capasso, Jenina, Sharony, Reuven, Inglehearn, Chris F, Levin, Alex V
Published in Ophthalmic genetics (01.06.2018)
Published in Ophthalmic genetics (01.06.2018)
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Journal Article
Optical coherence tomography in Knobloch syndrome
Thau, Avrey, Tsukikawa, Mai, Wangtiraumnuay, Nutsuchar, Capasso, Jenina, Affel, Elizabeth, Alnabi, Waleed Abed, Adam, Murtaza, Levin, Alex V.
Published in Journal of AAPOS (01.08.2018)
Published in Journal of AAPOS (01.08.2018)
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Journal Article
N-acetylcysteine and vitamin E rescue animal longevity and cellular oxidative stress in preclinical models of mitochondrial complex I disease
Polyak, Erzsebet, Ostrovsky, Julian, Peng, Min, Dingley, Stephen D., Tsukikawa, Mai, Kwon, Young Joon, McCormack, Shana, Bennett, Michael, Xiao, Rui, Seiler, Christoph, Zhang, Zhe, Falk, Marni J.
Published in Molecular genetics and metabolism (23.02.2018)
Published in Molecular genetics and metabolism (23.02.2018)
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Journal Article
Optical Coherence Tomography in Knobloch Syndrome
Thau, Avrey, Tsukikawa, Mai, Wangtiraumnuay, Nutsuchar, Capasso, Jenina, Affel, Elizabeth, Alnabi, Waleed Abed, Adam, Murtaza, Alsulaiman, Sulaiman M, Spirn, Marc, Levin, Alex V
Published in Ophthalmic surgery, lasers & imaging (01.08.2019)
Published in Ophthalmic surgery, lasers & imaging (01.08.2019)
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Journal Article
Mitochondrial DNA Variant in COX1 Subunit Significantly Alters Energy Metabolism of Geographically Divergent Wild Isolates in Caenorhabditis elegans
Dingley, Stephen D., Polyak, Erzsebet, Ostrovsky, Julian, Srinivasan, Satish, Lee, Icksoo, Rosenfeld, Amy B., Tsukikawa, Mai, Xiao, Rui, Selak, Mary A., Coon, Joshua J., Hebert, Alexander S., Grimsrud, Paul A., Kwon, Young Joon, Pagliarini, David J., Gai, Xiaowu, Schurr, Theodore G., Hüttemann, Maik, Nakamaru-Ogiso, Eiko, Falk, Marni J.
Published in Journal of molecular biology (29.05.2014)
Published in Journal of molecular biology (29.05.2014)
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Journal Article
Patients and animal models of CNG[beta]1-deficient retinitis pigmentosa support gene augmentation approach
Petersen-Jones, Simon M, Occelli, Laurence M, Winkler, Paige A, Lee, Winston, Sparrow, Janet R, Tsukikawa, Mai, Boye, Sanford L, Chiodo, Vince, Capasso, Jenina E, Becirovic, Elvir, Schon, Christian, Seeliger, Mathias W, Levin, Alex V, Michalakis, Stylianos, Hauswirth, William W, Tsang, Stephen H
Published in The Journal of clinical investigation (01.01.2018)
Published in The Journal of clinical investigation (01.01.2018)
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Journal Article