RS
Rameen Shah
New Jersey City University, Mayo Clinic Graduate School of Biomedical Sciences
Research areas: Biochemistry, Genetics and Molecular Biology · Biochemistry · Lysosomal Storage Disorders Research · Glycogen Storage Diseases and Myoclonus · Glycosylation and Glycoproteins Research
0000-0001-6478-6610
Employment
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New Jersey City University Adjunct Faculty2024 - Present
Education
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Mayo Clinic Graduate School of Biomedical Sciences2020 - 2024
Projects & Funding
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Exploring Glycosylation and Cardiac Function in PMM2-CDG Associated Hypertrophic Cardiomyopathy New York Academy of Medicine
Publications (18)
- DHDDS-related juvenile parkinsonism is caused by impaired lipid metabolism, glycosylation, and mitochondrial dysfunction, which can be rescued by NAD⁺ treatment Save
- PGM1 deficiency is linked to sarcomeric and mitochondrial dysfunction in patient-derived iPSC-cardiomyocytes Save
- Network Hypoactivity in ALG13-CDG: Disrupted Developmental Pathways and E/I Imbalance as Early Drivers of Neurological Features in CDG Save
- Are viral vector-mediated therapies compatible with aberrant glycosylation? Save
- Phenotypic and genotypic description of GMPPA-congenital disorder of glycosylation: A review of 26 cases Save
- Predicting disease-overarching therapeutic approaches for congenital disorders of glycosylation using multi-OMICS Save
- Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomes Save
- P036: Unveiling psychopathology in congenital disorders of glycosylation: A comprehensive study using patient records, questionnaires, and literature review Save
- Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluation Save
- ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines Save
- Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models Save
- Defining the phenotype of PGAP3-congenital disorder of glycosylation; a review of 65 cases Save
- Long‐term outcomes in ALG13‐Congenital Disorder of Glycosylation Save
- Development of a multiomics model for identification of predictive biomarkers for COVID-19 severity: a retrospective cohort study Save
- Abstract 1832: CHK1 inhibitor prexasertib induces NOXA-dependent apoptosis in ovarian cancer Save
- Substance Use Disorder in the COVID-19 Pandemic: A Systematic Review of Vulnerabilities and Complications Save
- Investigating CRISPR Spacer Sequences of Escherichia coli in NJ/NY Metropolitan Area Save
- Substance Use Disorder in the COVID-19 Pandemic: A Systematic Review of Vulnerabilities and Complications Save