A5083243262- Genetic Neurodegenerative Diseases
- Blood groups and transfusion
- Blood transfusion and management
- Platelet Disorders and Treatments
- Mitochondrial Function and Pathology
- RNA Research and Splicing
- Muscle Physiology and Disorders
- Atrial Fibrillation Management and Outcomes
- Microbial Metabolic Engineering and Bioproduction
- Hematopoietic Stem Cell Transplantation
- Parkinson's Disease Mechanisms and Treatments
- Cardiovascular Effects of Exercise
- Microtubule and mitosis dynamics
- Fungal and yeast genetics research
- Cardiac Arrhythmias and Treatments
- DNA Repair Mechanisms
- Viral Infections and Immunology Research
- Blood disorders and treatments
University of Rochester Medical Center
2020-2025
University of Washington
2023-2024
University of Rochester
2023
Kansas State University
2022
University of Oregon
2015
Myotonic dystrophy type 1 (DM1) is an inherited disease characterized by the inability to relax contracted muscles. Affected individuals carry large CTG expansions that are toxic when transcribed. One possible treatment approach reduce or eliminate transcription of repeats. Actinomycin D (ActD) a potent inhibitor and FDA-approved chemotherapeutic binds GC-rich DNA with high affinity. Here, we report ActD decreased CUG transcript levels in dose-dependent manner DM1 cell mouse models at...
We developed the FORCETM platform to overcome limitations of oligonucleotide delivery muscle and enable their applicability neuromuscular disorders. The consists an antigen-binding fragment, highly specific for human transferrin receptor 1 (TfR1), conjugated via a cleavable valine-citrulline linker. Myotonic dystrophy type (DM1) is disorder caused by expanded CUG triplets in DMPK RNA, which sequester splicing proteins nucleus, lead spliceopathy, drive disease progression. Multiple surrogate...
Abstract Biomarker-driven trials hold promise for therapeutic development in chronic diseases, such as muscular dystrophy. Myotonic dystrophy type 1 (DM1) involves RNA toxicity, where transcripts containing expanded CUG-repeats (CUGexp) accumulate nuclear foci and sequester splicing factors the Muscleblind-like (Mbnl) family. Oligonucleotide therapies to mitigate toxicity have emerged but reliable measures of target engagement are needed. Here we examined muscle transcriptomes mouse models...
CDK12 inhibition reduces mutant transcripts and nuclear foci in DM1 cells produces splicing correction phenotypic benefit a mouse model.
Abstract Up to a third of patients with hemato-oncologic conditions who have received multiply transfusions develop immune-mediated platelet transfusion refractoriness. Yet factors that influence posttransfusion corrected count increments (CCI) in HLA-alloimmune refractoriness remain less well elucidated. Recent advances HLA antibody characterization using fluorescent bead-based platforms enable the study donor-specific (DSA) avidity (as measured by mean fluorescence intensity [MFI]) and its...