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For the past 12 years, my main research has been focused on how Ca2+ signaling and its dysregulations lead or contribute to disease. My work revolves around the study of ion channels that locate in intracellular compartments such as the endoplasmic reticulum (ER) and lysosomes, of which, it has been proven to lead to disorders like Best Vitelliform Macular Dystrophy (BVMD) and Mucolipidosis Type IV. Specifically, my research on BVMD focused on how bestrophin-1 protein, an ion channel, was able to dysregulate levels of calcium in the ER and how this dysregulation impaired important cellular process like the store-operated calcium entry (SOCE) and phagocytosis in the retinal pigmented epithelium (RPE). Moreover, another branch of my research has been focused on how lysosomal dysfunction can lead to disease.To this end, I have studied the TRPML1 cation channel, which localizes in the lysosomes, and it is responsible for Mucolipidosis type IV. Here, I found out that lipid accumulation within the lysosomes decrease the release of Ca2+ through the TRPML1 disrupting different cellular process such as lysosomal exocytosis, ATP and cytokines release to the extracellular space, as well as activation of transcription factors that regulate autophagy
Research Interests
Papers共 16 篇Author StatisticsCo-AuthorSimilar Experts
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Author Statistics
#Papers: 16
#Citation: 356
H-Index: 13
G-Index: 15
Sociability: 4
Diversity: 2
Activity: 13
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