A5034656046- Nuclear Structure and Function
- RNA Research and Splicing
- Muscle Physiology and Disorders
- Neurofibromatosis and Schwannoma Cases
- Cancer Mechanisms and Therapy
- Hippo pathway signaling and YAP/TAZ
- Genomics and Chromatin Dynamics
- Glycosylation and Glycoproteins Research
- Mitochondrial Function and Pathology
- Genetics and Neurodevelopmental Disorders
- Silk-based biomaterials and applications
- Protein Degradation and Inhibitors
- Sleep and related disorders
- Lysosomal Storage Disorders Research
- Neurobiology and Insect Physiology Research
- Cellular Mechanics and Interactions
- Neuroblastoma Research and Treatments
Massachusetts General Hospital
2021-2024
Boston College
2017-2021
Insomnia is a common sleep disorder associated with negative long-term health outcomes. Mendelian randomization studies have found that insomnia significantly increases the risk of cardiovascular disease (CVD). To better understand link between and heart health, we identify genes both CVD. We model disruption Drosophila melanogaster orthologs in neurons cardiac tissue to characterize their cell-autonomous non-cell-autonomous role regulating physiology. three function cell-autonomously...
Muscle cells are a syncytium in which the many nuclei positioned to maximize distance between adjacent nuclei. Although mispositioned correlated with muscle disorders, it is not known whether this common phenotype result of mechanism. To answer question, we disrupted expression genes linked Emery-Dreifuss muscular dystrophy (EDMD) and centronuclear myopathy (CNM) Drosophila evaluated position We found that EDMD CNM were each necessary properly However, specific phenotypes different....
Neurofibromatosis type 1 (NF1) is a genetic disorder caused by mutation of the NF1 gene that associated with various symptoms, including formation benign tumors, called neurofibromas, within nerves. Drug treatments are currently limited. The mitogen-activated protein kinase (MEK) inhibitor selumetinib used for subset plexiform neurofibromas (PNs) but not always effective and can cause side effects. Therefore, there clear need to discover new drugs target NF1-deficient tumor cells. Using...
Mispositioned nuclei are a hallmark of skeletal muscle disease. Many the genes that linked to Emery-Dreifuss muscular dystrophy (EDMD) encode proteins critical for nuclear movement in various cells, suggesting disruptions and position may contribute disease progression. However, how these coordinated move is not known. Here, we focussed on two different emerin Drosophila, Bocksbeutel Otefin, their effects movement. Although was dependent both, elimination either or Otefin produced distinct...
A strength of Drosophila as a model system is its utility tool to screen for novel regulators various functional and developmental processes. However, the screening dependent on speed simplicity assay used. Here, we use larval locomotion an identify skeletal muscle function. We combined this with muscle-specific depletion 82 genes that impact function by their expression in cells. The data from were supported characterization pattern embryos larvae had disrupted strongest hit screen. With...
A new framework is established to analyze the distribution of nuclei in a muscle syncytium. It that move but cannot separate when LINC complex compromised are immobile microtubule cytoskeleton disrupted.
ABSTRACT Congenital disorders of glycosylation (CDG) comprise a class inborn errors metabolism resulting from pathogenic variants in genes coding for enzymes involved the asparagine-linked proteins. Unexpectedly to date, no CDG has been described ALG10 , encoding alpha-1,2-glucosyltransferase catalyzing final step lipid-linked oligosaccharide biosynthesis. Genome-wide association studies (GWAS) human traits UK Biobank revealed significant SNP associations with short sleep duration, reduced...
ABSTRACT Nuclear movement is a fundamental process of eukaryotic cell biology. Skeletal muscle presents an intriguing model to study nuclear because its development requires the precise positioning multiple nuclei within single cytoplasm. Furthermore, there high correlation between aberrant and poor function. Although many genes that regulate have been identified, mechanisms by which these act not known. Using Drosophila melanogaster as system, combination live-embryo microscopy laser...
ABSTRACT Neurofibromatosis type 1 (NF1) is a genetic disorder associated with various symptoms including the formation of benign tumors along nerves. Drug treatments are currently limited. The MEK inhibitor selumetinib used for subset cases but not always effective and can cause side effects. Therefore, there clear need to discover new drugs target NF1 -deficient tumor cells. Using Drosophila cell model NF1, we performed synthetic lethal screens identify novel drug targets. We identified 54...