Search Results - "Low, Sean E"

Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy by Dowling, James J, Vreede, Andrew P, Low, Sean E, Gibbs, Elizabeth M, Kuwada, John Y, Bonnemann, Carsten G, Feldman, Eva L

“…Myotubularin is a lipid phosphatase implicated in endosomal trafficking in vitro, but with an unknown function in vivo. Mutations in myotubularin cause…”
Get full text

RING finger protein 121 facilitates the degradation and membrane localization of voltage-gated sodium channels by Ogino, Kazutoyo, Low, Sean E., Yamada, Kenta, Saint-Amant, Louis, Zhou, Weibin, Muto, Akira, Asakawa, Kazuhide, Nakai, Junichi, Kawakami, Koichi, Kuwada, John Y., Hirata, Hiromi

“…Following their synthesis in the endoplasmic reticulum (ER), voltage-gated sodium channels (Na V) are transported to the membranes of excitable cells, where…”
Get full text

Touch responsiveness in zebrafish requires voltage-gated calcium channel 2.1b by Low, Sean E, Woods, Ian G, Lachance, Mathieu, Ryan, Joel, Schier, Alexander F, Saint-Amant, Louis

“…The molecular and physiological basis of the touch-unresponsive zebrafish mutant fakir has remained elusive. Here we report that the fakir phenotype is caused…”
Get full text

TRPM7 is required within zebrafish sensory neurons for the activation of touch-evoked escape behaviors by Low, Sean E, Amburgey, Kimberly, Horstick, Eric, Linsley, Jeremy, Sprague, Shawn M, Cui, Wilson W, Zhou, Weibin, Hirata, Hiromi, Saint-Amant, Louis, Hume, Richard I, Kuwada, John Y

“…Mutations in the gene encoding TRPM7 (trpm7), a member of the Transient Receptor Potential (TRP) superfamily of cation channels that possesses an enzymatically…”
Get full text

Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models by Dowling, James J, Joubert, Romain, Low, Sean E, Durban, Ashley N, Messaddeq, Nadia, Li, Xingli, Dulin-Smith, Ashley N, Snyder, Andrew D, Marshall, Morgan L, Marshall, Jordan T, Beggs, Alan H, Buj-Bello, Anna, Pierson, Christopher R

“…Myotubular myopathy (MTM) is a severe congenital muscle disease characterized by profound weakness, early respiratory failure and premature lethality. MTM is…”
Get full text

Connexin 39.9 Protein Is Necessary for Coordinated Activation of Slow-twitch Muscle and Normal Behavior in Zebrafish by Hirata, Hiromi, Wen, Hua, Kawakami, Yu, Naganawa, Yuriko, Ogino, Kazutoyo, Yamada, Kenta, Saint-Amant, Louis, Low, Sean E., Cui, Wilson W., Zhou, Weibin, Sprague, Shawn M., Asakawa, Kazuhide, Muto, Akira, Kawakami, Koichi, Kuwada, John Y.

“…In many tissues and organs, connexin proteins assemble between neighboring cells to form gap junctions. These gap junctions facilitate direct intercellular…”
Get full text

A novel homozygous variant of the PIGK gene caused by paternal disomy in a patient with neurodevelopmental disorder, cerebellar atrophy, and seizures by Sadamitsu, Kenichiro, Yanagi, Kumiko, Hasegawa, Yuiko, Murakami, Yoshiko, Low, Sean E., Ooshima, Daikun, Matsubara, Yoichi, Okamoto, Nobuhiko, Kaname, Tadashi, Hirata, Hiromi

“…Glycosylphosphatidylinositol (GPI)-anchored proteins are located at the cell surface by a covalent attachment between protein and GPI embedded in the plasma…”
Get full text

NaV1.6a is required for normal activation of motor circuits normally excited by tactile stimulation by Low, Sean E., Zhou, Weibin, Choong, Ingxin, Saint‐Amant, Louis, Sprague, Shawn M., Hirata, Hiromi, Cui, Wilson W., Hume, Richard I., Kuwada, John Y.

“…A screen for zebrafish motor mutants identified two noncomplementing alleles of a recessive mutation that were named non‐active (navmi89 and navmi130). nav…”
Get full text

The Zebrafish shocked Gene Encodes a Glycine Transporter and Is Essential for the Function of Early Neural Circuits in the CNS by Cui, Wilson W, Low, Sean E, Hirata, Hiromi, Saint-Amant, Louis, Geisler, Robert, Hume, Richard I, Kuwada, John Y

“…shocked (sho) is a zebrafish mutation that causes motor deficits attributable to CNS defects during the first2dof development. Mutant embryos display reduced…”
Get full text

touché Is required for touch-evoked generator potentials within vertebrate sensory neurons by Low, Sean E, Ryan, Joel, Sprague, Shawn M, Hirata, Hiromi, Cui, Wilson W, Zhou, Weibin, Hume, Richard I, Kuwada, John Y, Saint-Amant, Louis

“…The process by which light touch in vertebrates is transformed into an electrical response in cutaneous mechanosensitive neurons is a largely unresolved…”
Get full text

Amino acid variations resulting in functional and nonfunctional zebrafish P2X(1) and P2X (5.1) receptors by Low, Sean E, Kuwada, John Y, Hume, Richard I

“…Several zebrafish P2X receptors (zP2X(1), zP2X(2), and zP2X(5.1)) have been reported to produce little or no current although their mammalian orthologs produce…”
Get full text

Amino acid variations resulting in functional and nonfunctional zebrafish P2X1 and P2X5.1 receptors by Low, Sean E., Kuwada, John Y., Hume, Richard I.

“…Several zebrafish P2X receptors (zP2X 1 , zP2X 2 , and zP2X 5.1 ) have been reported to produce little or no current although their mammalian orthologs produce…”
Get full text

Na V 1.6a is required for normal activation of motor circuits normally excited by tactile stimulation by Low, Sean E., Zhou, Weibin, Choong, Ingxin, Saint‐Amant, Louis, Sprague, Shawn M., Hirata, Hiromi, Cui, Wilson W., Hume, Richard I., Kuwada, John Y.

“…Abstract A screen for zebrafish motor mutants identified two noncomplementing alleles of a recessive mutation that were named non‐active ( nav mi89 and nav…”
Get full text

Loss of Myotubularin Function Results in T-Tubule Disorganization in Zebrafish and Human Myotubular Myopathy: e1000372 by Dowling, James J, Vreede, Andrew P, Low, Sean E, Gibbs, Elizabeth M, Kuwada, John Y, Bonnemann, Carsten G, Feldman, Eva L

“…Myotubularin is a lipid phosphatase implicated in endosomal trafficking in vitro, but with an unknown function in vivo. Mutations in myotubularin cause…”
Get full text

From behavior to genes, and back again by Low, Sean E

“…The aim of this thesis was to use forward and reverse genetics to explore the contribution of unknown and known genes to the touch-evoked escape behaviors of…”
Get full text

Na(v)1.6a is required for normal activation of motor circuits normally excited by tactile stimulation by Low, Sean E, Zhou, Weibin, Choong, Ingxin, Saint-Amant, Louis, Sprague, Shawn M, Hirata, Hiromi, Cui, Wilson W, Hume, Richard I, Kuwada, John Y

“…A screen for zebrafish motor mutants identified two noncomplementing alleles of a recessive mutation that were named non-active (nav(mi89) and nav(mi130)). nav…”
Get full text