Carlos G. Vanoye

Stretch-activated single K+ channels account for whole-cell currents elicited by swelling

Vanoye, Carlos G., Reuss, Luis

Functionally significant stretch-activated ion channels have been clearly identified in excitable cells. Although single-channel studies suggest their expression in other cell types, their activity...

Nucleotides and phospholipids compete for binding to the C terminus of KATP channels

MacGregor, Gordon G., Dong, Ke, Vanoye, Carlos G., Tang, LieQi, Giebisch, Gerhard, Hebert, Steven C.

Inwardly rectifying, ATP-sensitive K+ channels (KATP) couple metabolism to either cell excitability (Kir6.x) or potassium secretion (Kir1.1). Phosphatidylinositol phospholipids, like PI(4,5)P2,...

Functional repair of a mutant chloride channel using a trans-splicing ribozyme

Rogers, Christopher S., Vanoye, Carlos G., Sullenger, Bruce A., George, Alfred L.

RNA repair has been proposed as a novel gene-based therapeutic strategy. Modified Tetrahymena group I intron ribozymes have been used to mediate trans-splicing of therapeutically relevant RNA...

Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy

Rhodes, Thomas H., Lossin, Christoph, Vanoye, Carlos G., Wang, Dao W., George, Alfred L.

Mutations in SCN1A, the gene encoding the brain voltage-gated sodium channel α1 subunit (NaV1.1), are associated with at least two forms of epilepsy, generalized epilepsy with febrile seizures plus...

Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic–clonic seizures

Rhodes, Thomas H, Vanoye, Carlos G, Ohmori, Iori, Ogiwara, Ikuo, Yamakawa, Kazuhiro, George, Alfred L

Mutations in SCN1A, the gene encoding the brain voltage-gated sodium channel α1 subunit (NaV1.1), are associated with genetic forms of epilepsy, including generalized epilepsy with febrile seizures...

Stretch-activated single K+ channels account for whole-cell currents elicited by swelling

Vanoye, Carlos G., Reuss, Luis

Functionally significant stretch-activated ion channels have been clearly identified in excitable cells. Although single-channel studies suggest their expression in other cell types, their activity...

Nucleotides and phospholipids compete for binding to the C terminus of KATP channels

MacGregor, Gordon G., Dong, Ke, Vanoye, Carlos G., Tang, LieQi, Giebisch, Gerhard, Hebert, Steven C.

Inwardly rectifying, ATP-sensitive K+ channels (KATP) couple metabolism to either cell excitability (Kir6.x) or potassium secretion (Kir1.1). Phosphatidylinositol phospholipids, like PI(4,5)P2,...

Functional repair of a mutant chloride channel using a trans-splicing ribozyme

Rogers, Christopher S., Vanoye, Carlos G., Sullenger, Bruce A., George, Alfred L.

RNA repair has been proposed as a novel gene-based therapeutic strategy. Modified Tetrahymena group I intron ribozymes have been used to mediate trans-splicing of therapeutically relevant RNA...

KCNJ2 Mutation Results in Andersen Syndrome with Sex-Specific Cardiac and Skeletal Muscle Phenotypes

Andelfinger, Gregor, Tapper, Andrew R., Welch, Richard C., Vanoye, Carlos G., George Jr., Alfred L., Benson, D. Woodrow

Evaluation of candidate loci culminated in the identification of a heterozygous missense mutation (R67W) in KCNJ2, the gene encoding the inward-rectifying potassium current, Kir2.1, in 41 members of...

Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy

Rhodes, Thomas H., Lossin, Christoph, Vanoye, Carlos G., Wang, Dao W., George, Alfred L.

Mutations in SCN1A, the gene encoding the brain voltage-gated sodium channel α1 subunit (NaV1.1), are associated with at least two forms of epilepsy, generalized epilepsy with febrile seizures plus...

Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic–clonic seizures

Rhodes, Thomas H, Vanoye, Carlos G, Ohmori, Iori, Ogiwara, Ikuo, Yamakawa, Kazuhiro, George, Alfred L

Mutations in SCN1A, the gene encoding the brain voltage-gated sodium channel α1 subunit (NaV1.1), are associated with genetic forms of epilepsy, including generalized epilepsy with febrile seizures...

Single-channel Properties of Human NaV1.1 and Mechanism of Channel Dysfunction in SCN1A-associated Epilepsy

Vanoye, Carlos G., Lossin, Christoph, Rhodes, Thomas H., George, Alfred L.

Mutations in genes encoding neuronal voltage-gated sodium channel subunits have been linked to inherited forms of epilepsy. The majority of mutations (>100) associated with generalized epilepsy with...

Functional characterization of recombinant human ClC-4 chloride channels in cultured mammalian cells

Vanoye, Carlos G, George, Alfred L

Members of the ClC chloride channel family participate in several physiological processes and are linked to human genetic diseases. The physiological role of ClC-4 is unknown and previous detailed...