Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004352 (autism)
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The aquaporins (AQP), a protein family, were first discovered in the early 1990s. The primary role of aquaporins is to facilitate water transport across multiple cell types. In the spinal cord and brain responsible for most of the water diffusion are AQP4 and AQP1. In this paper, we describe the structure, localization and role of this water channel family, especially AQP4 and AQP1. AQP4 is involved in various pathologies such as: stroke, brain tumors, Neuromyelitis optica (NMO), Alzheimer's Disease (AD), traumatic brain injury, Parkinson's Disease, hydrocephalus, schizophrenia, epilepsy, major depressive disorder, autism. Brain edema is the most important acute complication of the hypoxic-ischemic and it has no pathogenic treatment. Imaging and histopathology studies have shown that inhibition of AQP4 reduces brain edema.
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PMID:Distribution of Aquaporins 1 and 4 in the Central Nervous System. 3162 51