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The publication data currently available has been vetted by Vanderbilt faculty, staff, administrators and trainees. The data itself is retrieved directly from NCBI's PubMed and is automatically updated on a weekly basis to ensure accuracy and completeness.

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Results: 1 to 10 of 59

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Temporal manipulation of KCC3 expression in juvenile or adult mice suggests irreversible developmental deficit in hereditary motor sensory neuropathy with agenesis of the corpus callosum.
Flores B, Delpire E
(2021) Am J Physiol Cell Physiol 320: C722-C730
MeSH Terms: Age Factors, Agenesis of Corpus Callosum, Animals, Behavior, Animal, Disease Models, Animal, Female, Ganglia, Spinal, Gene Expression Regulation, Developmental, Genetic Predisposition to Disease, Genetic Therapy, Male, Mice, Inbred C57BL, Mice, Knockout, Motor Activity, Parvalbumins, Peripheral Nervous System Diseases, Phenotype, Postural Balance, Rotarod Performance Test, Symporters
Added February 26, 2021
1 Communities
0 Members
0 Resources
20 MeSH Terms
variants in cause sporadic early-onset progressive sensorimotor neuropathy.
Park J, Flores BR, Scherer K, Kuepper H, Rossi M, Rupprich K, Rautenberg M, Deininger N, Weichselbaum A, Grimm A, Sturm M, Grasshoff U, Delpire E, Haack TB
(2020) J Med Genet 57: 283-288
MeSH Terms: Adolescent, Age of Onset, Agenesis of Corpus Callosum, Charcot-Marie-Tooth Disease, Child, Female, Genotype, Hereditary Sensory and Autonomic Neuropathies, Humans, Infant, Magnetic Resonance Imaging, Male, Mutation, Pedigree, Peripheral Nervous System Diseases, Phenotype, Symporters
Added March 18, 2020
0 Communities
1 Members
0 Resources
17 MeSH Terms
KCC3 loss-of-function contributes to Andermann syndrome by inducing activity-dependent neuromuscular junction defects.
Bowerman M, Salsac C, Bernard V, Soulard C, Dionne A, Coque E, Benlefki S, Hince P, Dion PA, Butler-Browne G, Camu W, Bouchard JP, Delpire E, Rouleau GA, Raoul C, Scamps F
(2017) Neurobiol Dis 106: 35-48
MeSH Terms: Agenesis of Corpus Callosum, Animals, Carbamazepine, Cells, Cultured, Chlorides, Disease Models, Animal, Mice, Inbred C57BL, Mice, Transgenic, Motor Neurons, Neuromuscular Junction, Neurotransmitter Agents, Peripheral Nervous System Diseases, Presynaptic Terminals, Sodium-Potassium-Exchanging ATPase, Spinal Cord, Symporters, Synaptic Transmission
Added April 3, 2018
0 Communities
1 Members
0 Resources
17 MeSH Terms
Clinical and Genome-Wide Analysis of Cisplatin-Induced Peripheral Neuropathy in Survivors of Adult-Onset Cancer.
Dolan ME, El Charif O, Wheeler HE, Gamazon ER, Ardeshir-Rouhani-Fard S, Monahan P, Feldman DR, Hamilton RJ, Vaughn DJ, Beard CJ, Fung C, Kim J, Fossa SD, Hertz DL, Mushiroda T, Kubo M, Einhorn LH, Cox NJ, Travis LB, Platinum Study Group
(2017) Clin Cancer Res 23: 5757-5768
MeSH Terms: Adolescent, Adult, Age Factors, Age of Onset, Aged, Cancer Survivors, Cell Cycle Proteins, Cisplatin, Gene Expression Regulation, Neoplastic, Genome-Wide Association Study, Genotype, Humans, Hypertension, Male, Middle Aged, Neoplasm Proteins, Peripheral Nervous System Diseases, Polymorphism, Single Nucleotide, Risk Factors, Testicular Neoplasms
Added October 27, 2017
0 Communities
1 Members
0 Resources
20 MeSH Terms
The KCC3 cotransporter as a therapeutic target for peripheral neuropathy.
Delpire E, Kahle KT
(2017) Expert Opin Ther Targets 21: 113-116
MeSH Terms: Animals, Humans, Mice, Peripheral Nervous System Diseases, Symporters
Added May 3, 2017
0 Communities
1 Members
0 Resources
5 MeSH Terms
KCC3 deficiency-induced disruption of paranodal loops and impairment of axonal excitability in the peripheral nervous system.
Sun YT, Tzeng SF, Lin TS, Hsu KS, Delpire E, Shen MR
(2016) Neuroscience 335: 91-102
MeSH Terms: Action Potentials, Animals, Axons, Genotype, Mice, Knockout, Peripheral Nervous System, Symporters
Added May 3, 2017
0 Communities
1 Members
0 Resources
7 MeSH Terms
Peripheral motor neuropathy is associated with defective kinase regulation of the KCC3 cotransporter.
Kahle KT, Flores B, Bharucha-Goebel D, Zhang J, Donkervoort S, Hegde M, Hussain G, Duran D, Liang B, Sun D, Bönnemann CG, Delpire E
(2016) Sci Signal 9: ra77
MeSH Terms: Animals, Female, HEK293 Cells, Humans, Male, Mice, Mice, Mutant Strains, Motor Neurons, Mutation, Missense, Peripheral Nervous System Diseases, Phosphorylation, Symporters, WNK Lysine-Deficient Protein Kinase 1
Added August 22, 2016
1 Communities
0 Members
0 Resources
13 MeSH Terms
Conformational Stability and Pathogenic Misfolding of the Integral Membrane Protein PMP22.
Schlebach JP, Narayan M, Alford C, Mittendorf KF, Carter BD, Li J, Sanders CR
(2015) J Am Chem Soc 137: 8758-68
MeSH Terms: Amino Acid Sequence, Animals, Charcot-Marie-Tooth Disease, Dogs, Humans, Madin Darby Canine Kidney Cells, Metals, Models, Molecular, Molecular Sequence Data, Mutation, Missense, Myelin Proteins, Peripheral Nervous System Diseases, Protein Conformation, Protein Folding, Protein Stability, Protein Transport, Thermodynamics
Added February 20, 2016
0 Communities
2 Members
0 Resources
17 MeSH Terms
Patterns and severity of vincristine-induced peripheral neuropathy in children with acute lymphoblastic leukemia.
Lavoie Smith EM, Li L, Chiang C, Thomas K, Hutchinson RJ, Wells EM, Ho RH, Skiles J, Chakraborty A, Bridges CM, Renbarger J
(2015) J Peripher Nerv Syst 20: 37-46
MeSH Terms: Adolescent, Antineoplastic Agents, Phytogenic, Child, Child, Preschool, Female, Humans, Infant, Male, Pain Measurement, Peripheral Nervous System Diseases, Precursor Cell Lymphoblastic Leukemia-Lymphoma, Severity of Illness Index, Vincristine
Added November 10, 2016
0 Communities
1 Members
0 Resources
13 MeSH Terms
The homology model of PMP22 suggests mutations resulting in peripheral neuropathy disrupt transmembrane helix packing.
Mittendorf KF, Kroncke BM, Meiler J, Sanders CR
(2014) Biochemistry 53: 6139-41
MeSH Terms: Amino Acid Sequence, Claudins, Crystallography, X-Ray, Models, Molecular, Molecular Sequence Data, Mutation, Myelin Proteins, Peripheral Nervous System Diseases, Protein Binding, Protein Structure, Secondary, Protein Structure, Tertiary, Sequence Homology, Amino Acid
Added January 20, 2015
1 Communities
4 Members
0 Resources
12 MeSH Terms