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A KCNK16 mutation causing TALK-1 gain of function is associated with maturity-onset diabetes of the young.
Graff SM, Johnson SR, Leo PJ, Dadi PK, Dickerson MT, Nakhe AY, McInerney-Leo AM, Marshall M, Zaborska KE, Schaub CM, Brown MA, Jacobson DA, Duncan EL
(2021) JCI Insight 6:
MeSH Terms: Animals, Blood Glucose, Calcium Signaling, Channelopathies, Diabetes Mellitus, Type 2, Gain of Function Mutation, Humans, Insulin Secretion, Insulin-Secreting Cells, Membrane Potentials, Mice, Potassium Channels, Tandem Pore Domain
Added June 14, 2021
0 Communities
1 Members
0 Resources
12 MeSH Terms
Store depletion-induced h-channel plasticity rescues a channelopathy linked to Alzheimer's disease.
Musial TF, Molina-Campos E, Bean LA, Ybarra N, Borenstein R, Russo ML, Buss EW, Justus D, Neuman KM, Ayala GD, Mullen SA, Voskobiynyk Y, Tulisiak CT, Fels JA, Corbett NJ, Carballo G, Kennedy CD, Popovic J, Ramos-Franco J, Fill M, Pergande MR, Borgia JA, Corbett GT, Pahan K, Han Y, Chetkovich DM, Vassar RJ, Byrne RW, Matthew Oh M, Stoub TR, Remy S, Disterhoft JF, Nicholson DA
(2018) Neurobiol Learn Mem 154: 141-157
MeSH Terms: Action Potentials, Aging, Alzheimer Disease, Animals, CA1 Region, Hippocampal, Channelopathies, Disease Models, Animal, Endoplasmic Reticulum, Female, Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels, Male, Mice, Transgenic, Neuronal Plasticity, Pyramidal Cells
Added April 2, 2019
0 Communities
1 Members
0 Resources
14 MeSH Terms
A novel channelopathy in pulmonary arterial hypertension.
Ma L, Roman-Campos D, Austin ED, Eyries M, Sampson KS, Soubrier F, Germain M, Trégouët DA, Borczuk A, Rosenzweig EB, Girerd B, Montani D, Humbert M, Loyd JE, Kass RS, Chung WK
(2013) N Engl J Med 369: 351-361
MeSH Terms: Amino Acid Sequence, Channelopathies, Chlorobenzoates, Cinnamates, Exome, Familial Primary Pulmonary Hypertension, Female, Genetic Predisposition to Disease, Heterozygote, Humans, Hypertension, Pulmonary, Lung, Male, Molecular Sequence Data, Mutation, Missense, Nerve Tissue Proteins, Pedigree, Potassium Channels, Tandem Pore Domain, Sequence Analysis, DNA, ortho-Aminobenzoates
Added March 20, 2014
0 Communities
2 Members
0 Resources
20 MeSH Terms
Impact of genetics on the clinical management of channelopathies.
Schwartz PJ, Ackerman MJ, George AL, Wilde AAM
(2013) J Am Coll Cardiol 62: 169-180
MeSH Terms: Animals, Channelopathies, Disease Management, Genetic Testing, Genotype, Humans, Long QT Syndrome
Added March 7, 2014
0 Communities
1 Members
0 Resources
7 MeSH Terms
mRNA surveillance and endoplasmic reticulum quality control processes alter biogenesis of mutant GABAA receptor subunits associated with genetic epilepsies.
Macdonald RL, Kang JQ
(2012) Epilepsia 53 Suppl 9: 59-70
MeSH Terms: Animals, Channelopathies, Codon, Nonsense, Endoplasmic Reticulum, Epilepsy, Epilepsy, Generalized, Frameshift Mutation, Humans, Ion Channels, Mutation, Proteostasis Deficiencies, RNA Splicing, RNA, Messenger, Receptors, GABA-A
Added January 24, 2015
0 Communities
1 Members
0 Resources
14 MeSH Terms
Mislocalization of h channel subunits underlies h channelopathy in temporal lobe epilepsy.
Shin M, Brager D, Jaramillo TC, Johnston D, Chetkovich DM
(2008) Neurobiol Dis 32: 26-36
MeSH Terms: Animals, Channelopathies, Cyclic Nucleotide-Gated Cation Channels, Epilepsy, Temporal Lobe, Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels, Male, Membrane Proteins, Mice, Nerve Tissue Proteins, Potassium Channels, Protein Subunits, Protein Transport, Rats, Rats, Sprague-Dawley
Added April 2, 2019
0 Communities
1 Members
0 Resources
MeSH Terms