1 - 25 of 124 results for author:"Meisler M.H." in Literature citations
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| In vivo, Pikfyve generates PI(3,5)P2, which serves as both a signaling lipid and the major precursor for PI5P. Zolov S.N., Bridges D., Zhang Y., Lee W.W., Riehle E., Verma R., Lenk G.M., Converso-Baran K., Weide T., Albin R.L. et al. Proc. Natl. Acad. Sci. U.S.A. 109:17472-17477(2012) · Mapped (12) |
| Modulation of synaptic function by VAC14, a protein that regulates the phosphoinositides PI(3,5)P(2) and PI(5)P. Zhang Y., McCartney A.J., Zolov S.N., Ferguson C.J., Meisler M.H., Sutton M.A., Weisman L.S. EMBO J. 31:3442-3456(2012) · Mapped (9) |
| Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration. Ferguson C.J., Lenk G.M., Jones J.M., Grant A.E., Winters J.J., Dowling J.J., Giger R.J., Meisler M.H. Hum. Mol. Genet. 21:3525-3534(2012) · Mapped (4) |
| Interaction of voltage-gated sodium channel Nav1.6 (SCN8A) with microtubule-associated protein Map1b. O'Brien J.E., Sharkey L.M., Vallianatos C.N., Han C., Blossom J.C., Yu T., Waxman S.G., Dib-Hajj S.D., Meisler M.H. J. Biol. Chem. 287:18459-18466(2012) · Mapped (14) |
| De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP. Veeramah K.R., O'Brien J.E., Meisler M.H., Cheng X., Dib-Hajj S.D., Waxman S.G., Talwar D., Girirajan S., Eichler E.E., Restifo L.L. et al. Am. J. Hum. Genet. 90:502-510(2012) · UniProtKB (3) |
| The splicing regulator Rbfox2 is required for both cerebellar development and mature motor function. Gehman L.T., Meera P., Stoilov P., Shiue L., O'Brien J.E., Meisler M.H., Ares M. Jr., Otis T.S., Black D.L. Genes Dev. 26:445-460(2012) · Mapped (185) |
| Congenital CNS hypomyelination in the Fig4 null mouse is rescued by neuronal expression of the PI(3,5)P(2) phosphatase Fig4. Winters J.J., Ferguson C.J., Lenk G.M., Giger-Mateeva V.I., Shrager P., Meisler M.H., Giger R.J. J. Neurosci. 31:17736-17751(2011) · Mapped (4) |
| Rbfox proteins regulate alternative splicing of neuronal sodium channel SCN8A. O'Brien J.E., Drews V.L., Jones J.M., Dugas J.C., Barres B.A., Meisler M.H. Mol. Cell. Neurosci. 49:120-126(2012) · Mapped (2) |
| Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies. Vaccari I., Dina G., Tronchere H., Kaufman E., Chicanne G., Cerri F., Wrabetz L., Payrastre B., Quattrini A., Weisman L.S. et al. PLoS Genet. 7:e1002319-e1002319(2011) · Mapped (15) |
| A null mutation of the neuronal sodium channel NaV1.6 disrupts action potential propagation and excitation-contraction coupling in the mouse heart. Noujaim S.F., Kaur K., Milstein M., Jones J.M., Furspan P., Jiang D., Auerbach D.S., Herron T., Meisler M.H., Jalife J. FASEB J. 26:63-72(2012) · Mapped (7) |
| Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P(2) phosphatase FIG4. Nicholson G., Lenk G.M., Reddel S.W., Grant A.E., Towne C.F., Ferguson C.J., Simpson E., Scheuerle A., Yasick M., Hoffman S. et al. Brain 134:1959-1971(2011) · Mapped (3) |
| Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J. Lenk G.M., Ferguson C.J., Chow C.Y., Jin N., Jones J.M., Grant A.E., Zolov S.N., Winters J.J., Giger R.J., Dowling J.J. et al. PLoS Genet. 7:e1002104-e1002104(2011) · Mapped (9) |
| Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy. Freilich E.R., Jones J.M., Gaillard W.D., Conry J.A., Tsuchida T.N., Reyes C., Dib-Hajj S., Waxman S.G., Meisler M.H., Pearl P.L. Arch. Neurol. 68:665-671(2011) · Mapped (7) |
| Persistent Nav1.6 current at axon initial segments tunes spike timing of cerebellar granule cells. Osorio N., Cathala L., Meisler M.H., Crest M., Magistretti J., Delmas P. J. Physiol. (Lond.) 588:651-670(2010) · Mapped (8) |
| Altered function of the SCN1A voltage-gated sodium channel leads to gamma-aminobutyric acid-ergic (GABAergic) interneuron abnormalities. Martin M.S., Dutt K., Papale L.A., Dube C.M., Dutton S.B., de Haan G., Shankar A., Tufik S., Meisler M.H., Baram T.Z. et al. J. Biol. Chem. 285:9823-9834(2010) · Mapped (8) |
| Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P2. Ferguson C.J., Lenk G.M., Meisler M.H. Hum. Mol. Genet. 18:4868-4878(2009) · Mapped (9) |
| The ataxia3 mutation in the N-terminal cytoplasmic domain of sodium channel Na(v)1.6 disrupts intracellular trafficking. Sharkey L.M., Cheng X., Drews V., Buchner D.A., Jones J.M., Justice M.J., Waxman S.G., Dib-Hajj S.D., Meisler M.H. J. Neurosci. 29:2733-2741(2009) · Mapped (7) |
| Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice. Papale L.A., Beyer B., Jones J.M., Sharkey L.M., Tufik S., Epstein M., Letts V.A., Meisler M.H., Frankel W.N., Escayg A. Hum. Mol. Genet. 18:1633-1641(2009) · Mapped (7) |
| Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. Chow C.Y., Landers J.E., Bergren S.K., Sapp P.C., Grant A.E., Jones J.M., Everett L., Lenk G.M., McKenna-Yasek D.M., Weisman L.S. et al. Am. J. Hum. Genet. 84:85-88(2009) · UniProtKB (1) · Mapped (2) |
| VAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI(3,5)P(2) in yeast and mouse. Jin N., Chow C.Y., Liu L., Zolov S.N., Bronson R., Davisson M., Petersen J.L., Zhang Y., Park S., Duex J.E. et al. |
| Inherited neuronal ion channelopathies: new windows on complex neurological diseases. Catterall W.A., Dib-Hajj S., Meisler M.H., Pietrobon D. J. Neurosci. 28:11768-11777(2008) · Mapped (15) |
| A targeted deleterious allele of the splicing factor SCNM1 in the mouse. Howell V.M., de Haan G., Bergren S., Jones J.M., Culiat C.T., Michaud E.J., Frankel W.N., Meisler M.H. Genetics 180:1419-1427(2008) · Mapped (14) |
| Evaluation of the Golgi trafficking protein VPS54 (wobbler) as a candidate for ALS. Meisler M.H., Russ C., Montgomery K.T., Greenway M., Ennis S., Hardiman O., Figlewicz D.A., Quenneville N.R., Conibear E., Brown R.H. Jr. Amyotroph Lateral Scler 9:141-148(2008) · Mapped (3) |
| Exaggerated emotional behavior in mice heterozygous null for the sodium channel Scn8a (Nav1.6). McKinney B.C., Chow C.Y., Meisler M.H., Murphy G.G. Genes Brain Behav. 7:629-638(2008) · Mapped (7) |
| Loss of Vac14, a regulator of the signaling lipid phosphatidylinositol 3,5-bisphosphate, results in neurodegeneration in mice. Zhang Y., Zolov S.N., Chow C.Y., Slutsky S.G., Richardson S.C., Piper R.C., Yang B., Nau J.J., Westrick R.J., Morrison S.J. et al. Proc. Natl. Acad. Sci. U.S.A. 104:17518-17523(2007) · UniProtKB (2) · Mapped (4) |