Research Topics
Genomes and Genes | Jerry R MendellSummaryAffiliation: The Ohio State University Country: USA Publications
| Collaborators
|
Detail Information
Publications
Novel compound heterozygous laminina2-chain gene (LAMA2) mutations in congenital muscular dystrophy. Mutations in brief no. 159. OnlineJ T Mendell
Department of Biochemistry, Ohio State University, 1654 Upham Drive, Columbus 43210, Ohio, USA
Hum Mutat 12:135. 1998..By either mechanism the phenotype of congenital muscular dystrophy is believed to be the result of disruption of linkage between the extracellular matrix and the dystrophin glycoprotein complex...- Gene transfer for neurologic disease: agencies, policies, and processJerry R Mendell
Center for Neuromuscular Disorders, Children s Research Institute, Department of Neurology, The Ohio State University, WA 3024, 700 Children s Drive, Columbus, OH 43205, USA
Neurology 63:2225-32. 2004..The links provided to all appropriate Web sites will facilitate the process for the clinician investigator... - Clinical practice. Painful sensory neuropathyJerry R Mendell
Department of Neurology, Ohio State University, Columbus 43210, USA
N Engl J Med 348:1243-55. 2003 
Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2DJerry R Mendell
Department of Pediatrics, Ohio State University, Columbus, OH, USA
Ann Neurol 68:629-38. 2010....- Gene therapy for muscular dystrophy: lessons learned and path forwardJerry R Mendell
Center for Gene Therapy, Research Institute at Nationwide Children s Hospital, Department of Pediatrics, The Ohio State University, Columbus, OH 43205, USA
Neurosci Lett 527:90-9. 2012..Increasing the size and strength of the muscle is the goal of this study. Most importantly, no adverse events have been encountered in any of these clinical trials... - Homologous recombination mediates functional recovery of dysferlin deficiency following AAV5 gene transferWilliam E Grose
Department of Pediatrics, The Ohio State University, Columbus, Ohio, United States of America
PLoS ONE 7:e39233. 2012..We provide proof of principle that AAV5 mediated delivery of dysferlin is a highly promising strategy for treatment of dysferlinopathies and has far-reaching implications for the therapeutic delivery of other large genes... 
Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophyVinod Malik
Center for Gene Therapy, Research Institute at Nationwide Children s Hospital, Ohio State University, Columbus, OH 43205, USA
Ann Neurol 67:771-80. 2010..Mutation suppression of stop codons, successfully achieved in the mdx mouse using gentamicin, represents an important evolving treatment strategy in Duchenne muscular dystrophy (DMD)...- Novel diagnostic features of dysferlinopathiesXiomara Q Rosales
Department of Pediatrics, Neuromuscular Division, Nationwide Children s Hospital, Columbus, Ohio, USA
Muscle Nerve 42:14-21. 2010..Correlative studies showed colocalization of amyloid with deposition of dysferlin. The present data further serve to guide clinicians facing the expensive task of molecular characterization of patients with an LGMD phenotype... - AAV-mediated gene therapy to the isolated limb in rhesus macaquesLouise R Rodino-Klapac
Center for Gene Therapy, The Research Institute at Nationwide Children s Hospital and Department of Pediatrics, The Ohio State University, Columbus, OH, USA
Methods Mol Biol 709:287-98. 2011..We also provide methods for assessing transduction efficiency of microdystrophin.FLAG following the IFLP vascular delivery protocol... - Dystrophin immunity in Duchenne's muscular dystrophyJerry R Mendell
Center for Gene Therapy, Research Institute at Nationwide Children s Hospital, Columbus, OH 43205, USA
N Engl J Med 363:1429-37. 2010..Funded by the Muscular Dystrophy Association and others; ClinicalTrials.gov number, NCT00428935.)... - Follistatin gene delivery enhances muscle growth and strength in nonhuman primatesJanaiah Kota
Center for Gene Therapy, Research Institute at Nationwide Children s Hospital, Columbus, OH 43205, USA
Sci Transl Med 1:6ra15. 2009..Our results, together with the findings in mice, suggest that therapy with AAV1-FS344 may improve muscle mass and function in patients with certain degenerative muscle disorders... - Persistent expression of FLAG-tagged micro dystrophin in nonhuman primates following intramuscular and vascular deliveryLouise R Rodino-Klapac
Department of Pediatrics, The Ohio State University Nationwide Children s Hospital, Columbus, Ohio 43205, USA
Mol Ther 18:109-17. 2010..In summary, an epitope-tagged micro-dystrophin cassette enhances the ability to evaluate site-specific localization and distribution of gene expression in the NHP in preparation for vascular delivery clinical trials... - Overexpression of Galgt2 in skeletal muscle prevents injury resulting from eccentric contractions in both mdx and wild-type micePaul T Martin
Center for Gene Therapy, The Research Institute at Nationwide Children s Hospital, Department of Pediatrics, The Ohio State Univ College of Medicine, 304 Hamilton Hall, 1645 Neil Ave, Columbus, OH 43210 1218, USA
Am J Physiol Cell Physiol 296:C476-88. 2009..That overexpression also prevents loss of force in nondystrophic muscles suggests that Galgt2 is a therapeutic target with broad potential applications... - Limb-girdle muscular dystrophy type 2D gene therapy restores alpha-sarcoglycan and associated proteinsJerry R Mendell
Department of Pediatrics, Ohio State University, Columbus, OH, USA
Ann Neurol 66:290-7. 2009..Gene replacement represents a strategy for correcting the underlying defect. Questions related to this approach were addressed in this clinical trial, particularly the need for immunotherapy and persistence of gene expression... - Inhibition of myostatin with emphasis on follistatin as a therapy for muscle diseaseLouise R Rodino-Klapac
Center for Gene Therapy, Research Institute at Nationwide Children s Hospital, 700 Children s Drive, Columbus, Ohio 43205 USA
Muscle Nerve 39:283-96. 2009..These findings provide the impetus to move toward gene therapy clinical trials with delivery of AAV-FS344 to increase size and function of muscle in patients with neuromuscular disease... - Effects of angiotensin-converting enzyme inhibitors and/or beta blockers on the cardiomyopathy in Duchenne muscular dystrophyLaurence Viollet
Nationwide Children s Hospital, Columbus, OH, USA
Am J Cardiol 110:98-102. 2012..No significant difference occurred in EF improvement between treatment groups. In conclusion, treatment with ACE inhibitor or ACE inhibitor plus BB can delay progression of cardiomyopathy... - A translational approach for limb vascular delivery of the micro-dystrophin gene without high volume or high pressure for treatment of Duchenne muscular dystrophyLouise R Rodino-Klapac
Center for Gene Therapy, Columbus Children s Research Institute, Columbus Children s Hospital, 700 Children s Dr, Columbus, Ohio 43205, USA
J Transl Med 5:45. 2007.... - Analysis of dystrophin deletion mutations predicts age of cardiomyopathy onset in becker muscular dystrophyRita Wen Kaspar
Center for Gene Therapy, The Research Institute at Nationwide Children s Hospital College of Nursing, The Ohio State University, Columbus, Ohio, USA
Circ Cardiovasc Genet 2:544-51. 2009..This approach was chosen to connect dystrophin structure with function in the heart... - Essential metabolic, anti-inflammatory, and anti-tumorigenic functions of miR-122 in liverShu Hao Hsu
Molecular, Cellular, and Developmental Biology Program, The Ohio State University, Columbus, OH, USA
J Clin Invest 122:2871-83. 2012.... - Systemic gene delivery in large species for targeting spinal cord, brain, and peripheral tissues for pediatric disordersAdam K Bevan
Center for Gene Therapy, The Research Institute at Nationwide Children s Hospital, Columbus, Ohio 43205, USA
Mol Ther 19:1971-80. 2011..Our findings support the use of AAV9 for gene transfer to the CNS for disorders in pediatric populations... - Knee extensor strength exhibits potential to predict function in sporadic inclusion-body myositisLinda Pax Lowes
Center for Gene Therapy, Nationwide Children s Hospital, 700 Children s Drive, Columbus, Ohio 43205, USA
Muscle Nerve 45:163-8. 2012..This has immediate relevance to translational studies that attempt to improve quadriceps strength in sporadic inclusion-body myositis (sIBM)... - Cardiovascular magnetic resonance of cardiomyopathy in limb girdle muscular dystrophy 2B and 2IXiomara Q Rosales
Center for Gene Therapy, The Research Institute at Nationwide Children s Hospital, Columbus, Ohio 43205, USA
J Cardiovasc Magn Reson 13:39. 2011.... - Long-term enhancement of skeletal muscle mass and strength by single gene administration of myostatin inhibitorsAmanda M Haidet
The Research Institute, Nationwide Children s Hospital, Columbus, OH 43205, USA
Proc Natl Acad Sci U S A 105:4318-22. 2008..These results demonstrate a promising therapeutic strategy that warrants consideration for clinical trials in human muscle diseases... - Evidence-based path to newborn screening for Duchenne muscular dystrophyJerry R Mendell
Department of Pediatrics, Ohio State University and Nationwide Children s Hospital, Columbus, OH 43205, USA
Ann Neurol 71:304-13. 2012..As a marker for newborn screening, CK in Duchenne muscular dystrophy (DMD) results in false-positive testing. In this report, we introduce a 2-tier system using the dried blood spot to first assess CK with follow-up DMD gene testing... - Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD geneKevin M Flanigan
Center for Gene Therapy, Nationwide Children s Hospital, Columbus, Ohio, USA
Hum Mutat 32:299-308. 2011..We present a new model based on the combination of exon definition and intronic splicing regulatory elements for the selective association of BMD nonsense mutations with a subset of DMD exons prone to mutation-induced exon skipping... - Therapeutic microRNA delivery suppresses tumorigenesis in a murine liver cancer modelJanaiah Kota
Center for Gene Therapy, The Research Institute at Nationwide Children s Hospital, Columbus, OH 43205, USA
Cell 137:1005-17. 2009..These findings suggest that delivery of miRNAs that are highly expressed and therefore tolerated in normal tissues but lost in disease cells may provide a general strategy for miRNA replacement therapies... - Fidelity of gamma-glutamyl transferase (GGT) in differentiating skeletal muscle from liver damageXiomara Q Rosales
Department of Pediatrics, The Ohio State University, Columbus, Ohio, USA
J Child Neurol 23:748-51. 2008..Validation of this finding is essential for management of patients with muscle disorders exposed to potentially hepatotoxic drugs for clinical management or monitoring subjects participating in clinical trials... - Lambert-Eaton myasthenic syndrome in childrenChang Yong Tsao
Department of Pediatrics and Neurology, College of Medicine and Public Health, The Ohio State University, USA
J Child Neurol 17:74-6. 2002..High-frequency repetitive nerve stimulation and P/Q-type calcium-channel antibodies may confirm the diagnosis... - Combined partial deficiencies of carnitine palmitoyltransferase II and mitochondrial complex I presenting as increased serum creatine kinase levelChang Yong Tsao
Department of Pediatrics and Neurology, College of Medicine and Public Health, The Ohio State University, Columbus, USA
J Child Neurol 17:304-6. 2002..Metabolic myopathy may present with chronic fatigue and a persistently high serum creatine kinase level but without muscle weakness and may be attributable to combined enzyme defects... - Dermatomyositis in two siblings and a brief review of familial dermatomyositisChang Yong Tsao
Department of Pediatrics, The Ohio State University, Columbus, USA
J Child Neurol 17:540-2. 2002..Familial dermatomyositis can occur in different family members, and even dermatomyositis and polymyositis can coexist in the same family... - Cardiac management in neuromuscular diseasesHugh D Allen
The Ohio State University College of Medicine, Columbus, OH, USA Center for Gene Therapy, Research Institute, Nationwide Children s Hospital, 700 Children s Drive, Columbus, OH 43205, USA The Heart Center, Nationwide Children s Hospital, 700 Children s Drive, Columbus, OH 43205, USA Baylor College of Medicine, Texas Children s Hospital Heart Center, 6621 Fannin Street, Houston, TX 77030, USA Electronic address
Phys Med Rehabil Clin N Am 23:855-68. 2012..Some dystrophies can have significant conduction abnormalities requiring pacemaker treatment. Others with ventricular tachydysrhythmias may necessitate internal cardiac defibrillator placement... - The muscular dystrophies: distinct pathogenic mechanisms invite novel therapeutic approachesZarife Sahenk
The Research Institute at Nationwide Children s Hospital, Departments of Pediatrics and Neurology, Ohio State University, 700 Children s Drive, Room WA3024, Columbus, OH 43205, USA
Curr Rheumatol Rep 13:199-207. 2011..In many ways, the molecular gene defects are the most traditional. Gene repair strategies have advanced to the level of clinical testing, and we hope they will provide relief for this most devastating form of muscular dystrophy... - Aminoglycoside-induced mutation suppression (stop codon readthrough) as a therapeutic strategy for Duchenne muscular dystrophyVinod Malik
The Research Institute at Nationwide Children s Hospital and Department of Pediatrics at The Ohio State University College of Medicine, Columbus, OH, USA
Ther Adv Neurol Disord 3:379-89. 2010..Here we review nonsense mutation suppression by aminoglycosides as a therapeutic strategy to treat DMD with special emphasis on gentamicin-induced readthrough of disease-causing premature termination codons... - Gene therapy for duchenne muscular dystrophy: expectations and challengesLouise R Rodino Klapac
Center for Gene Therapy, Columbus Children s Research Institute, Columbus, OH, USA
Arch Neurol 64:1236-41. 2007..This article highlights the challenges and potential pitfalls as the field advances this treatment modality to clinical reality... - Utility of cystatin C to monitor renal function in Duchenne muscular dystrophyLaurence Viollet
Research Institute at Nationwide Children s Hospital and Department of Pediatrics at Ohio State University, 700 Children s Drive, Room 3011, Columbus, Ohio 43205, USA
Muscle Nerve 40:438-42. 2009..01). In one DMD subject in renal failure, cystatin C was elevated. This study demonstrates the potential value of cystatin C as a biomarker for monitoring renal function in DMD. Its applicability extends to other neuromuscular diseases... - Molecular therapeutic strategies targeting Duchenne muscular dystrophyJerry R Mendell
Center for Gene Therapy, Nationwide Children s Hospital, Department of Pediatrics, The Ohio State University, Columbus, OH 43205, USA
J Child Neurol 25:1145-8. 2010..The results are modest and encumbered by side effects. The authors review 3 molecular therapeutic approaches that have been introduced into the clinic: (1) gene replacement therapy, (2) mutation suppression, and (3) exon skipping... - Emerging drugs for Duchenne muscular dystrophyVinod Malik
The Ohio State University, Research Institute, Nationwide Children s Hospital and, Department of Pediatrics, Columbus, OH 43205, USA
Expert Opin Emerg Drugs 17:261-77. 2012..The review emphasizes that the goal of treatment should be to find a product at least as good as glucocorticoids with a lower side effect profile or with a significant glucocorticoid sparing effect... - Challenges in drug development for muscle disease: a stakeholders' meetingJerry R Mendell
Columbus Children s Research Institute, and Ohio State University, 700 Children s Drive, Columbus, OH 43235, USA
Muscle Nerve 35:8-16. 2007..The meeting provided a format for communication for diverse disciplines that usually have no common meeting ground, helping to lay the foundation for bringing products to market in a timely fashion... - A phase I/IItrial of MYO-029 in adult subjects with muscular dystrophyKathryn R Wagner
Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, MD 21287 7519, USA
Ann Neurol 63:561-71. 2008..We conducted a safety trial of a neutralizing antibody to myostatin, MYO-029, in adult muscular dystrophies (Becker muscular dystrophy, facioscapulohumeral dystrophy, and limb-girdle muscular dystrophy)... - Re-examination of the electrocardiogram in boys with Duchenne muscular dystrophy and correlation with its dilated cardiomyopathyPhilip T Thrush
Department of Pediatrics, The Ohio State University, and the Heart Center, Nationwide Children s Hospital, Columbus, Ohio, USA
Am J Cardiol 103:262-5. 2009..Previously reported characteristic ECG changes are seen in a minority of DMD cases. The most common findings are short PR interval and RVH. Prominent Q waves in leads II, III, aVF, V5, and V6 are more likely... - RNA interference inhibits DUX4-induced muscle toxicity in vivo: implications for a targeted FSHD therapyLindsay M Wallace
Molecular, Cellular, and Developmental Biology Graduate Program, The Ohio State University, Columbus, Ohio, USA
Mol Ther 20:1417-23. 2012..We found that adeno-associated viral (AAV) vector-delivered therapeutic microRNAs corrected DUX4-associated myopathy in mouse muscle. These results provide proof-of-principle for RNAi therapy of FSHD through DUX4 inhibition... - Challenges for gene therapy for muscular dystrophyJerry R Mendell
Center for Gene Therapy, Columbus Children s Research Institute, Columbus, OH 43205, USA
Curr Neurol Neurosci Rep 6:47-56. 2006..This review examines recent progress and the hurdles remaining to achieve gene-based treatment therapies for muscular dystrophy... - The congenital muscular dystrophies: recent advances and molecular insightsJerry R Mendell
Department of Pediatrics, Columbus Children s Hospital and Research Institute and The Ohio State University, 700 Children s Drive, Columbus, OH 43205, USA
Pediatr Dev Pathol 9:427-43. 2006..g., family history, central nervous system features) can help guide the battery of immunostains necessary to target an unequivocal diagnosis... - An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophyBakri Elsheikh
Department of Neurology, Ohio State University, 421 Means Hall, 1654 Upham Drive, Columbus, Ohio 43210, USA
Muscle Nerve 40:652-6. 2009..There was, however, no difference between the groups in quantitative muscle strength or pulmonary function testing. Functional scale may be a more discriminating outcome measure for SMA clinical trials... - Gene transfer demonstrates that muscle is not a primary target for non-cell-autonomous toxicity in familial amyotrophic lateral sclerosisTimothy M Miller
Ludwig Institute for Cancer Research, La Jolla, CA 92093, USA
Proc Natl Acad Sci U S A 103:19546-51. 2006..Thus, SOD1-mutant-mediated damage within muscles is not a significant contributor to non-cell-autonomous pathogenesis in ALS, and enhancing muscle mass and strength provides no benefit in slowing disease onset or progression... - Risks, benefits, and consent in the age of gene therapyJerry R Mendell
Neurology 66:964-5. 2006