Neurobiology of Disease Loss of Neuronal Potassium/Chloride Cotransporter 3 (KCC3) Is Responsible for the Degenerative Phenotype in a Conditional Mouse Model of Hereditary Motor and Sensory Neuropathy Associated with Agenesis of the Corpus Callosum
نویسندگان
چکیده
Masoud Shekarabi,1 Randal X. Moldrich,5,6 Sarah Rasheed,1 Adéle Salin-Cantegrel,1 Janet Laganière,1 Daniel Rochefort,1 Pascale Hince,1 Karine Huot,1 Rébecca Gaudet,1 Nyoman Kurniawan,6 Susana G. Sotocinal,8 Jennifer Ritchie,8 Patrick A. Dion,1,2 Jeffrey S. Mogil,8 Linda J. Richards,5,7 and Guy A. Rouleau1,3,4 1Center of Excellence in Neuroscience of the Université de Montréal, Centre de Recherche du Centre Hospitalier de l’Université de Montréal, 2Department of Pathology and Cellular Biology, 3CHU Sainte-Justine Research Center and Department of Paediatrics and Biochemistry, and 4Department of Medicine, University of Montreal, Montréal, Québec H2L 4MI, Canada, 5Queensland Brain Institute, 6Centre for Advanced Imaging, and 7School of Biomedical Sciences, The University of Queensland, St. Lucia, Queensland 4072, Australia, and 8Department of Psychology and Alan Edwards Centre for Research on Pain, McGill University, Montréal, Québec H3A 1A4, Canada
منابع مشابه
A role for KCC3 in maintaining cell volume of peripheral nerve fibers
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 populatio...
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Loss-of-function of the potassium-chloride cotransporter 3 (KCC3) causes hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC), a severe neurodegenerative disease associated with defective midline crossing of commissural axons in the brain. Conversely, KCC3 over-expression in breast, ovarian and cervical cancer is associated with enhanced tumor cell malignancy ...
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Missense and protein-truncating mutations of the human potassium-chloride co-transporter 3 gene (KCC3) cause hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC), which is a severe neurodegenerative disease characterized by axonal dysfunction and neurodevelopmental defects. We previously reported that KCC3-truncating mutations disrupt brain-type creatine kinas...
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Basal encephalocele is a rare craniofacial anomaly. In the present paper we report a 10-year-old boy presented with cleft palate, congenital nystagmus, and hypertelorism. During preoperative evaluation for cleft palate repair, a pulsatile mass was detected in the pharynx. Magnetic resonance imaging showed sphenoethmoidal type of basal encephalocele and agenesis of corpus callosum. Neurosurgical...
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