Research Topics
Genomes and Genes | Jerry R MendellSummaryAffiliation: Nationwide Children's Hospital Country: USA Publications
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Publications
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...- 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... - 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... - 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.... - 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... - 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.)... - 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... - 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... - 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.... - 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... - 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)... - 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... - 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... - 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... - 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... - 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.... - 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... - 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... - 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... - 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... - 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... - 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... - 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... - 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... - 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... - 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... - Partial epilepsy in an adolescent male with limb-girdle muscular dystrophy 1BChang Yong Tsao
Departments of Pediatric and Neurology, The Ohio State University, Columbus, Ohio, USA
J Child Neurol 24:346-8. 2009..We now report another rare case of partial epilepsy and limb-girdle muscular dystrophy type 1B with lamin A/C gene mutation...