A5005183407- Muscle Physiology and Disorders
- Functional Brain Connectivity Studies
- Mental Health Research Topics
- Treatment of Major Depression
- Congenital heart defects research
- Hippo pathway signaling and YAP/TAZ
- Tissue Engineering and Regenerative Medicine
- Adipose Tissue and Metabolism
- Advanced MRI Techniques and Applications
- Virus-based gene therapy research
- RNA Research and Splicing
- Neurobiology and Insect Physiology Research
- Neural and Behavioral Psychology Studies
- Zebrafish Biomedical Research Applications
- Telomeres, Telomerase, and Senescence
- Autism Spectrum Disorder Research
- Single-cell and spatial transcriptomics
- Nerve injury and regeneration
- Neural dynamics and brain function
- Cardiovascular Function and Risk Factors
- RNA modifications and cancer
- Nuclear Structure and Function
- Developmental Biology and Gene Regulation
- Cellular Mechanics and Interactions
- Prosthetics and Rehabilitation Robotics
University of California, Los Angeles
2022-2024
Broad Center
2022-2023
Boston Children's Hospital
2016-2020
Dana-Farber/Boston Children's Cancer and Blood Disorders Center
2018
Harvard University
2017-2018
Pediatrics and Genetics
2018
University of North Carolina at Chapel Hill
2014-2016
Duke University Hospital
2015
Duke Medical Center
2015
University of North Carolina Health Care
2014
Duchenne muscular dystrophy (DMD) is caused by out-of-frame mutations in the DMD gene resulting absence of a functional dystrophin protein, leading to devastating and progressive lethal muscle-wasting disease. Little known about cellular heterogeneity as disease severity increases. Advances single-cell RNA sequencing (scRNA-seq) enabled us explore skeletal muscle-resident cell populations healthy, dystrophic, severely dystrophic mouse models. We found increased frequencies activated...
Significance Duchenne muscular dystrophy (DMD) is a genetic X-linked neuromuscular disease characterized by severe muscle degeneration caused absence of the protein dystrophin. In golden retriever dog model DMD, two atypical dogs exhibited significantly milder phenotypes compared with their severely affected littermates despite lacking These notable were found to have decreased expression phosphatidylinositol transfer protein-α ( PITPNA ) dogs. Decreased in dystrophin-deficient zebrafish and...
Sapje zebrafish lack the protein dystrophin and are smallest vertebrate model of Duchenne muscular dystrophy (DMD). Their small size makes them ideal for large-scale drug discovery screens. However, extent that sapje mimic muscle dysfunction higher models DMD is unclear. We used an optical birefringence assay to differentiate affected dystrophic larvae from their unaffected siblings then studied trunk contractility at 4-7 days postfertilization. Preparation cross-sectional area (CSA) was...
Abstract Skeletal muscle stem and progenitor cells including those derived from human pluripotent (hPSCs) offer an avenue towards personalized therapies readily fuse to form human–mouse myofibres in vivo. However, skeletal (SMPCs) inefficiently colonize chimeric cell niches instead associate with resembling foetal niches. We hypothesized competition mouse satellite (SCs) prevented SMPC engraftment into the SC niche thus generated ablation compatible engraftment. Single-nucleus RNA sequencing...
The identification and characterization of the cellular molecular pathways involved in differentiation morphogenesis specific cell types developing heart are crucial to understanding process cardiac development pathology associated with human congenital disease. Here, we show that transcription factor CASTOR (CASZ1) directly interacts disease 5 protein (CHD5), which is also known as tryptophan-rich basic (WRB), a gene located on chromosome 21 proposed region responsible for individuals...
Duchenne muscular dystrophy (DMD) is an X-linked muscle wasting disease that caused by the loss of functional dystrophin protein in cardiac and skeletal muscles. DMD patient muscles become weakened, leading to eventual myofiber breakdown replacement with fibrotic adipose tissues. Inflammation drives pathogenic processes through releasing inflammatory cytokines other factors promote degeneration contributing motor function. Selective inhibitors nuclear export (SINEs) are a class compounds...
The zinc-finger transcription factor CASZ1 is required for differentiation of a distinct population cardiomyocytes during development. However, expression Casz1 mRNA detected throughout the developing heart, suggesting spatial regulation occurs at protein level. Relatively little known about posttranscriptional in heart.We generated antibodies that specifically recognize Xenopus embryos, and performed immunofluorescence analysis cardiac was myocardium. restricted to terminally differentiated...
Zebrafish are a powerful tool for studying muscle function owing to their high numbers of offspring, low maintenance costs, evolutionarily conserved functions, and the ability rapidly take up small molecular compounds during early larval stages. Fukutin-related protein (FKRP) is putative glycosyltransferase that functions in Golgi apparatus modify sugar chain molecules newly translated proteins. Patients with mutations FKRP gene can have wide spectrum clinical symptoms varying muscle, eye,...
Facioscapulohumeral dystrophy type 1 (FSHD-1) is the most common autosomal dominant form of muscular with a prevalence ∼1 in 8000 individuals. It considered late-onset and leads to asymmetric muscle weakness facial, scapular, trunk lower extremities. The prevalent hypothesis on disease pathogenesis explained by misexpression germ line, primate-specific transcription factor DUX4-fl (double homeobox 4, full-length isoform) linked chromosome 4q35. In vitro vivo studies have demonstrated that...
Tetraspanins are a family of proteins known to assemble protein complexes at the cell membrane. They thought play diverse cellular functions in tissues by modifying protein-binding partners, thus bringing complexity and diversity their regulatory networks. Previously, we identified tetraspanin KAI/CD82 as prospective marker for human muscle stem cells. CD82 expression appeared decreased Duchenne muscular dystrophy (DMD) muscle, suggesting functional link dystrophy, yet whether this decrease...
Abstract Duchenne muscular dystrophy is caused by mutations in the DYSTROPHIN gene. Although primarily associated with muscle wasting, a significant portion of patients (approximately 25%) are also diagnosed autism spectrum disorder. We describe social behavioral deficits dystrophin-deficient mice and present evidence cerebellar cGMP production. demonstrate therapeutic potential for selective inhibitors cGMP-specific PDE5A PDE9A enzymes to restore behaviors mice.
Duchenne muscular dystrophy (DMD) is caused by an out-of-frame mutation in the DMD gene that results absence of a functional dystrophin protein, leading to devastating progressive lethal muscle-wasting disease. Muscle stem cell-based therapy promising avenue for improving muscle regeneration. However, despite efforts deliver optimal cell population multiple muscles most have failed. Here we describe detailed optimized method delivery human skeletal progenitor cells (SMPCs) hindlimb healthy,...
Zebrafish are a preferred vertebrate model for delineating genotype-phenotype relationships. One of the most studied features zebrafish is their exceptional swimming ability. By 7 days postfertilization (dpf), spend over two-thirds time engaged in spontaneous activity and several months later they capable attaining some fastest velocities relative to body length ever recorded laboratory. However, laboratory-assembled flumes achieving slow flow characteristics larvae as well relatively fast...
Duchenne muscular dystrophy (DMD) is a progressive muscle-wasting disease caused by mutation of the