Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy.
Smith, Laura, Vandana Gupta, and Alan Beggs. 2014. “Bridging Integrator 1 (Bin1) Deficiency in Zebrafish Results in Centronuclear Myopathy.”. Hum Mol Genet.
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Analysis of skeletal muscle defects in larval zebrafish by birefringence and touch-evoke escape response assays.
Smith, Laura, Alan Beggs, and Vandana Gupta. 2013. “Analysis of Skeletal Muscle Defects in Larval Zebrafish by Birefringence and Touch-Evoke Escape Response Assays.”. J Vis Exp, no. 82: e50925.
Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition.
Brownstein, Catherine, Meghan Towne, Lovelace Luquette, David Harris, Nicholas Marinakis, Peter Meinecke, Kerstin Kutsche, et al. 2013. “Mutation of KCNJ8 in a Patient With Cantú Syndrome With Unique Vascular Abnormalities - Support for the Role of K(ATP) Channels in This Condition.”. Eur J Med Genet 56 (12): 678-82.
Congenital myopathy caused by a novel missense mutation in the CFL2 gene.
Ockeloen, Gilhuis, Pfundt, Kamsteeg, PB Agrawal, AH Beggs, Dara Hama-Amin, et al. 2012. “Congenital Myopathy Caused by a Novel Missense Mutation in the CFL2 Gene.”. Neuromuscul Disord 22 (7): 632-9.
Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle maintenance.
Agrawal, Pankaj, Mugdha Joshi, Talia Savic, Zoe Chen, and Alan Beggs. 2012. “Normal Myofibrillar Development Followed by Progressive Sarcomeric Disruption With Actin Accumulations in a Mouse Cfl2 Knockout Demonstrates Requirement of Cofilin-2 for Muscle Maintenance.”. Hum Mol Genet 21 (10): 2341-56.
Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype.
Pierson, Christopher, Ashley Dulin-Smith, Ashley Durban, Morgan Marshall, Jordan Marshall, Andrew Snyder, Nada Naiyer, et al. 2012. “Modeling the Human MTM1 P.R69C Mutation in Murine Mtm1 Results in Exon 4 Skipping and a Less Severe Myotubular Myopathy Phenotype.”. Hum Mol Genet 21 (4): 811-25.
MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers.
Beggs, Alan, Johann Böhm, Elizabeth Snead, Marek Kozlowski, Marie Maurer, Katie Minor, Martin Childers, et al. 2010. “MTM1 Mutation Associated With X-Linked Myotubular Myopathy in Labrador Retrievers.”. Proc Natl Acad Sci U S A 107 (33): 14697-702.
The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence.
Lehtokari, Vilma-Lotta, Rebecca Greenleaf, Elizabeth Dechene, Mutsumi Kellinsalmi, Katarina Pelin, Nigel Laing, Alan Beggs, and Carina Wallgren-Pettersson. 2009. “The Exon 55 Deletion in the Nebulin Gene--One Single Founder Mutation With World-Wide Occurrence.”. Neuromuscul Disord 19 (3): 179-81.
Multiple serotonergic brainstem abnormalities in sudden infant death syndrome.
Paterson, David, Felicia Trachtenberg, Eric Thompson, Richard Belliveau, Alan Beggs, Ryan Darnall, Amy Chadwick, Henry Krous, and Hannah Kinney. 2006. “Multiple Serotonergic Brainstem Abnormalities in Sudden Infant Death Syndrome.”. JAMA 296 (17): 2124-32.
X-linked myotubular and centronuclear myopathies.
Pierson, Christopher, Kinga Tomczak, Pankaj Agrawal, Behzad Moghadaszadeh, and Alan Beggs. 2005. “X-Linked Myotubular and Centronuclear Myopathies.”. J Neuropathol Exp Neurol 64 (7): 555-64.