Optimizing assays of zebrafish larvae swimming performance for drug discovery

Authors: Widrick, Jeffrey J., Lambert, Matthias R., Kunkel, Louis M., Beggs, Alan H.

Source: Expert opinion on drug discovery. 18(6):629-641

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100185804796.0x000001&indx=1&recIds=ETOCvdc_100185804796.0x000001

Tandem duplication within the DMD gene in Labrador retrievers with a mild clinical phenotype

Authors: Shelton, G. Diane, Minor, Katie M., Vieira, Natassia M., Kunkel, Louis M., Friedenberg, Steven G., Cullen, Jonah N., Guo, Ling T., Zatz, Mayana, Mickelson, James R.

Source: In Neuromuscular Disorders October 2022 32(10):836-841

Skeletal muscle-specific overexpression of miR-486 limits mammary tumor-induced skeletal muscle functional limitations

Authors: Wang, Ruizhong, Kumar, Brijesh, Doud, Emma H., Mosley, Amber L., Alexander, Matthew S., Kunkel, Louis M., Nakshatri, Harikrishna

Source: Molecular therapy.Nucleic acids. 28:231-248

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100187585334.0x000001&indx=1&recIds=ETOCvdc_100187585334.0x000001

Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy

Authors: Bruels, Christine C., Littel, Hannah R., Daugherty, Audrey L., Stafki, Seth, Estrella, Elicia A., McGaughy, Emily S., Truong, Don, Badalamenti, Jonathan P., Pais, Lynn, Ganesh, Vijay S., O'Donnell‐Luria, Anne, Stalker, Heather J., Wang, Yang, Collins, Christin, Behlmann, Andrea, Lemmers, Richard J. L. F., Maarel, Silvère M., Laine, Regina, Ghosh, Partha S., Darras, Basil T., Zingariello, Carla D., Pacak, Christina A., Kunkel, Louis M., Kang, Peter B.

Source: Annals of clinical and translational neurology. 9(8):1302-1309

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100158351955.0x000001&indx=1&recIds=ETOCvdc_100158351955.0x000001

PDE10A Inhibition Reduces the Manifestation of Pathology in DMD Zebrafish and Represses the Genetic Modifier PITPNA

Authors: Lambert, Matthias R., Spinazzola, Janelle M., Widrick, Jeffrey J., Pakula, Anna, Conner, James R., Chin, Janice E., Owens, Jane M., Kunkel, Louis M.

Source: In Molecular Therapy 3 March 2021 29(3):1086-1101

HnRNP L is essential for myogenic differentiation and modulates myotonic dystrophy pathologies

Authors: Alexander, Matthew S., Hightower, Rylie M., Reid, Andrea L., Bennett, Alexis H., Iyer, Lakshmanan, Slonim, Donna K., Saha, Madhurima, Kawahara, Genri, Kunkel, Louis M., Kopin, Alan S., Gupta, Vandana A., Kang, Peter B., Draper, Isabelle

Source: Muscle & nerve. 63(6):928-940

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100130984500.0x000001&indx=1&recIds=ETOCvdc_100130984500.0x000001

Dominant stop‐loss HNRNPA1 variants in juvenile‐onset myopathy.

Authors: Turner, Johnnie, Bruels, Christine C., Daugherty, Audrey L., Estrella, Elicia A., Stafki, Seth, Syeda, Safoora B., Littel, Hannah R., Pais, Lynn, Ganesh, Vijay S., Lidov, Hart G. W., Paine, Simon M. L., Maddison, Paul, Harrison, Rachel E., Straub, Volker, Ghosh, Partha S., Pacak, Christina A., Kunkel, Louis M., Draper, Isabelle, Topf, Ana, Kang, Peter B.

Source: Muscle & Nerve; Oct2024, Vol. 70 Issue 4, p843-850, 8p

The SINE Compound KPT-350 Blocks Dystrophic Pathologies in DMD Zebrafish and Mice

Authors: Hightower, Rylie M. ^{1, 2}, Reid, Andrea L. ¹, Gibbs, Devin E. ³, Wang, Yimin ¹, Widrick, Jeffrey J. ³, Kunkel, Louis M. ^{3, 4, 5, 6}, Kastenschmidt, Jenna M. ^{7, 8}, Villalta, S. Armando ^{7, 8}, van Groen, Thomas ⁹, Chang, Hua ¹⁰, Gornisiewicz, Savanna ¹⁰, Landesman, Yosef ¹⁰, Tamir, Sharon ¹⁰, Alexander, Matthew S. ^{1, 2, 11, 12, ∗}

Source: In Molecular Therapy 8 January 2020 28(1):189-201

Discovering Statistically Significant Pathways in Expression Profiling Studies

Authors: Tian, Lu, Greenberg, Steven A., Kong, Sek Won, Altschuler, Josiah, Kohane, Isaac S., Park, Peter J., Kunkel, Louis M.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2005 Sep . 102(38), 13544-13549.

Access URL: https://www.jstor.org/stable/3376670

A Zebrafish bmyb Mutation Causes Genome Instability and Increased Cancer Susceptibility

Authors: Shepard, Jennifer L., Amatruda, James F., Stern, Howard M., Subramanian, Aravind, Finkelstein, David, Ziai, James, Finley, K. Rose, Pfaff, Kathleen L., Hersey, Candace, Zhou, Yi, Barut, Bruce, Freedman, Matthew, Lee, Charles, Spitsbergen, Jan, Neuberg, Donna, Weber, Gerhard, Golub, Todd R., Glickman, Jonathan N., Kutok, Jeffery L., Aster, Jon C., Zon, Leonard I., Kunkel, Louis M.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2005 Sep . 102(37), 13194-13199.

Access URL: https://www.jstor.org/stable/3376539

The Vast Majority of Bone-Marrow-Derived Cells Integrated into mdx Muscle Fibers Are Silent despite Long-Term Engraftment

Authors: Wernig, Gerlinde, Janzen, Viktor, Schäfer, Ralf, Zweyer, Margit, Knauf, Ulrich, Hoegemeier, Oliver, Mundegar, Rustam R., Garbe, Stefan, Stier, Sebastian, Franz, Thomas, Wernig, Marius, Wernig, Anton, Kunkel, Louis M.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2005 Aug . 102(33), 11852-11857.

Access URL: https://www.jstor.org/stable/3376359

No Association between Microsomal Triglyceride Transfer Protein (MTP) Haplotype and Longevity in Humans

Authors: Nebel, Almut, Stiegeler, Rieke, Nikolaus, Susanna, Krawczak, Michael, Schreiber, Stefan, Kunkel, Louis M.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2005 May . 102(22), 7906-7909.

Access URL: https://www.jstor.org/stable/3375692

Muscle Regeneration in the Prolonged Absence of Myostatin

Authors: Wagner, Kathryn R., Liu, Xiaosong, Chang, Xiaoli, Allen, Ronald E., Kunkel, Louis M.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2005 Feb . 102(7), 2519-2524.

Access URL: https://www.jstor.org/stable/3374648

Systemic Delivery of Antisense Oligoribonucleotide Restores Dystrophin Expression in Body-Wide Skeletal Muscles

Authors: Lu, Qi Long, Rabinowitz, Adam, Chen, Yun Chao, Yokota, Toshifumi, Yin, HaiFang, Alter, Julia, Jadoon, Atif, Bou-Gharios, George, Partridge, Terence, Kunkel, Louis M.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2005 Jan 01. 102(1), 198-203.

Access URL: https://www.jstor.org/stable/3374150

The Fragile X Protein Controls Microtubule-Associated Protein 1B Translation and Microtubule Stability in Brain Neuron Development

Authors: Lu, Robert, Wang, Houping, Liang, Zhe, Ku, Li, O'Donnell, William T., Li, Wen, Warren, Stephen T., Feng, Yue, Kunkel, Louis M.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2004 Oct . 101(42), 15201-15206.

Access URL: https://www.jstor.org/stable/3373600

Heregulin Ameliorates the Dystrophic Phenotype in mdx Mice

Authors: Bogdanovich, Sasha, Jensen, Claus J., Fischer, M. Dominik, Hansen-Schwartz, Jacob, Javazon, Elisabeth H., Flake, Alan W., Edvinsson, Lars, Khurana, Tejvir S., Kunkel, Louis M.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2004 Sep . 101(38), 13856-13860.

Access URL: https://www.jstor.org/stable/3373298

Human Centromere Repositioning "In Progress"

Authors: Amor, David J., Bentley, Karen, Ryan, Jacinta, Perry, Jo, Wong, Lee, Slater, Howard, Kunkel, Louis M.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2004 Apr . 101(17), 6542-6547.

Access URL: https://www.jstor.org/stable/3372119

Systemic Delivery of Human Microdystrophin to Regenerating Mouse Dystrophic Muscle by Muscle Progenitor Cells

Authors: Bachrach, Estanislao, Li, Sheng, Perez, Antonio L., Schienda, Jaclyn, Liadaki, Kalliopi, Volinski, Jay, Flint, Alan, Chamberlain, Jeffrey, Kunkel, Louis M.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2004 Mar 01. 101(10), 3581-3586.

Access URL: https://www.jstor.org/stable/3371522

Repression of phosphatidylinositol transfer protein α ameliorates the pathology of Duchenne muscular dystrophy

Authors: Vieira, Natassia M., Spinazzola, Janelle M., Alexander, Matthew S., Moreira, Yuri B., Kawahara, Genri, Gibbs, Devin E., Mead, Lillian C., Verjovski-Almeida, Sergio, Zatz, Mayana, Kunkel, Louis M.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2017 Jun 01. 114(23), 6080-6085.

Access URL: https://www.jstor.org/stable/26484145

Haplotype-Based Identification of a Microsomal Transfer Protein Marker Associated with the Human Lifespan

Authors: Geesaman, Bard J., Benson, Erica, Brewster, Stephanie J., Kunkel, Louis M., Blanché, Hélène, Thomas, Gilles, Perls, Thomas T., Daly, Mark J., Puca, Annibale A.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2003 Nov . 100(24), 14115-14120.

Access URL: https://www.jstor.org/stable/3148921