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• W2790086385 abstract "The potassium chloride cotransporter, KCC3, is an electroneutral cotransporter expressed in the peripheral and central nervous system. KCC3 is responsible for the efflux of K+ and Cl- in neurons to help maintain cell volume and intracellular chloride levels. A loss-of-function (LOF) of KCC3 causes Hereditary Motor Sensory Neuropathy with Agenesis of the Corpus Callosum (HMSN/ACC) in a population of individuals in the Charlevoix/Lac-Saint-Jean region of Quebec, Canada. A variety of mouse models have been created to understand the physiological and deleterious effects of a KCC3 LOF. Though this KCC3 LOF in mouse models has recapitulated the peripheral neuropathy phenotype of HMSN/ACC, we still know little about the development of the disease pathophysiology. Interestingly, the most recent KCC3 mouse model that we created recapitulated a peripheral neuropathy-like phenotype originating from a KCC3 gain-of-function (GOF). Despite the past two decades of research in attempting to understand the role of KCC3 in disease, we still do not understand how dysfunction of this cotransporter can lead to the pathophysiology of peripheral neuropathy. This review focuses on the function of KCC3 in neurons and its role in human and health and disease." @default.
• W2790086385 created "2018-03-29" @default.
• W2790086385 creator A5002188738 @default.
• W2790086385 creator A5088649225 @default.
• W2790086385 creator A5091542226 @default.
• W2790086385 date "2019-02-01" @default.
• W2790086385 modified "2023-09-25" @default.
• W2790086385 title "A role for KCC3 in maintaining cell volume of peripheral nerve fibers" @default.
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• W2790086385 doi "https://doi.org/10.1016/j.neuint.2018.01.009" @default.
• W2790086385 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6398598" @default.
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