University of Pennsylvania · NeuroscienceMyotubular Myopathy Research Lab
James J Dowling · Philadelphia, Pennsylvania
Research Focus
Dr. James J. Dowling's lab focuses on understanding a severe childhood muscle disease called X-linked myotubular myopathy (XLMTM), which is caused by mutations in the MTM1 gene. The research investigates the role of this gene in muscle development by exploring how MTM1 affects nuclear structures and gene expression related to muscle maturation. Through innovative mouse models and cutting-edge techniques, the lab aims to uncover the mechanics of this disease and contribute to potential therapy development.
X-linked myotubular myopathymuscle developmentMTM1 genenuclear architecturegene expression
Research Aims
3AIM 01Explore the localization and interactome of nuclear MTM1.
AIM 02Define alterations in nuclear structure and myogenic transcription due to MTM1 mutation.
AIM 03Examine the roles of nuclear versus non-nuclear MTM1 in muscle development.
Skills the Lab Values
3D block face electron microscopyAAV gene deliverysingle nucleus RNA sequencingspatial transcriptomicsgenome architecture analysis
Output against the department
Publications392top 16% of dept.106th of 671
this lab
most publishedleast published
Citations14ktop 28% of dept.186th of 671
this lab
most citedleast cited
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