Jesus Alberto Frias, Ph.D.
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Jesus Alberto Frias, Ph.D.
Postdoctoral Fellow
Positions
- Postdoctoral Fellow
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Pathology and Immunology
Baylor College of Medicine
Houston, TX US
Education
- BS from State University of New York at Albany
- 05/2017 - Albany, New York United States
- PhD from State University of New York at Albany
- 05/2024 - Albany, New York United States
Professional Interests
- Bioinformatics
- RNA expansion diseases
- Molecular Biology
Professional Statement
Myotonic dystrophy type 1 (DM1) is neuromuscular disease with multisystemic symptoms affecting muscle, heart, brain, and the gastrointestinal (GI) tract. About 79% of DM1 patients report at least one GI related symptom, ranging from issues swallowing to vomiting, diarrhea, and fecal incontinence. Numerous studies have characterized how DM1 can affect skeletal muscle function, but we lack studies on the mechanisms leading to GI symptoms in DM1. The Cooper lab has started to study how the small and large intestines are affected in DM1 using disease transgenic mouse models. My goal is to identify the mechanisms by which DM1 affects the esophagus using DM1 mouse models.DM1 is caused by a CTG repeat expansion in the 3’ untranslated region (UTR) of the DMPK gene. CUG expanded repeat RNA (CUGexp) sequester muscleblind-like (MBNL) proteins away from their function as regulators of mRNA processing, such as regulation of alternative splicing. The loss of function of MBNL causes changes in alternative splicing which have been linked to symptoms observed in DM1. My project is to test if the expression of CUGexp in the esophagus can cause esophageal dysfunction and identify the molecular changes involved in these phenotypes. I plan on using transgenic mice that express CUGexp in the esophagus as a starting point for my project. The molecular changes caused by CUGexp could serve as potential therapeutic targets for GI symptom relief.
Selected Publications
- "Alternative splicing dysregulation across tissue and therapeutic approaches in a mouse model of myotonic dystrophy type 1." ; Pubmed PMID: 39391766
- "Expression levels of core spliceosomal proteins modulate the MBNL-mediated spliceopathy in DM1." ; Pubmed PMID: 39180495
- "Molecular characterization of myotonic dystrophy fibroblast cell lines for use in small molecule screening." ; Pubmed PMID: 35479399
- "Smad4-dependent morphogenic signals control the maturation and axonal targeting of basal vomeronasal sensory neurons to the accessory olfactory bulb." ; Pubmed PMID: 32341026
- "The transcription factor Tfap2e/AP-2ε plays a pivotal role in maintaining the identity of basal vomeronasal sensory neurons." ; Pubmed PMID: 29928868
Languages
Spanish
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