Dr raul p de guzman

Brill Nijhoff. Brill Wageningen Academic. Brill Fink. Brill mentis.

The ultimate goal is to develop novel therapeutics strategies for patients with this rare disease. We aim to understand the role of endosomal ion transport for neuronal function, with focus on two endo-lysosomal transporters, ClC-3 and ClC-4, that regulate the pH and [Cl-] in multiple endosomal compartments. A group of neurodevelopmental disorders, in which slight changes in ClC-3 or ClC-4 transport functions cause epilepsy and intellectual disability as well as anxiety, depression, hyperactivity, and bipolar disorders, illustrate the importance of these transporters for higher brain functions. We use transgene technology genetically modified mouse models and shRNA lentiviral transduction , patch-clamp electrophysiology, membrane cell capacitance measurements, carbon fiber amperometry, photolytic uncaging of intracellular calcium, molecular biology, and confocal microscopy to understand the cellular and molecular function of ClC-3 and ClC-4 in neuronal health and disease and to identify potential strategies for the treatment of CLCN3- and CLCN4-related disorders. Comini, M. A, Franzen, A. Sierra-Marquez, J.

Dr raul p de guzman

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Dr raul p de guzman

After completing his residency in general surgery, he undertook research training in the Cardiology Branch of the National Heart, Lung and Blood Institute at the National Institutes of Health in Bethesda, MD and subsequently completed a fellowship in vascular surgery at Stanford University Hospital. His clinical interests relate to patients with diabetic vascular disease and ischemic foot ulcers. His research focuses on the role of arterial calcification in lower extremity ischemia. Yale School of Medicine. About YSM. YSM Administration.

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How to Manage your Online Holdings. Brill Nijhoff. Brill Wageningen Academic. Delete Cancel Save. Add to Cart. Functional characterization of CLCN4 variants associated with X-linked intellectual disability and epilepsy. Modified from Comini, M. MARC Records. We use transgene technology genetically modified mouse models and shRNA lentiviral transduction , patch-clamp electrophysiology, membrane cell capacitance measurements, carbon fiber amperometry, photolytic uncaging of intracellular calcium, molecular biology, and confocal microscopy to understand the cellular and molecular function of ClC-3 and ClC-4 in neuronal health and disease and to identify potential strategies for the treatment of CLCN3- and CLCN4-related disorders. The molecular and phenotypic spectrum of CLCN4-related epilepsy. Fonts, Scripts and Unicode. Investor Relations.

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Rights and Permissions. Login to my Brill account Create Brill Account. Email Newsletter Sign-up Pages. Investor Relations. Social Media Overview. Forschungsthemen We aim to understand the role of endosomal ion transport for neuronal function, with focus on two endo-lysosomal transporters, ClC-3 and ClC-4, that regulate the pH and [Cl-] in multiple endosomal compartments. Theology and World Christianity. DOI: Cellular Neurophysiology Dr. LibLynx Access Management. Open Access for Academic Societies.