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Akademický článek

Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models

Autor: James J. Dowling, Romain Joubert, Sean E. Low, Ashley N. Durban, Nadia Messaddeq, Xingli Li, Ashley N. Dulin-Smith, Andrew D. Snyder, Morgan L. Marshall, Jordan T. Marshall, Alan H. Beggs, Anna Buj-Bello, Christopher R. Pierson

Publikováno v: Disease Models & Mechanisms, Vol 5, Iss 6, Pp 852-859 (2012)

SUMMARY Myotubular myopathy (MTM) is a severe congenital muscle disease characterized by profound weakness, early respiratory failure and premature lethality. MTM is defined by muscle biopsy findings that include centralized nuclei and disorganizatio

Externí odkaz: https://doaj.org/article/261ac33dd5b44ad292b315296e2ef427

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Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models

Autor: Andrew D. Snyder, Ashley N. Dulin-Smith, R. Joubert, Xingli Li, Alan H. Beggs, Christopher R. Pierson, Morgan L. Marshall, Sean E. Low, Anna Buj-Bello, Ashley N. Durban, Jordan T. Marshall, James J. Dowling, Nadia Messaddeq

Publikováno v: Disease Models & Mechanisms, Vol 5, Iss 6, Pp 852-859 (2012)
Disease Models & Mechanisms
Disease Models & Mechanisms, Cambridge Company of Biologists, 2012, 5 (6), pp.852-859. ⟨10.1242/DMM.009746⟩
Disease Models & Mechanisms, Cambridge Company of Biologists, 2012, 5 (6), pp.852-9. ⟨10.1242/dmm.009746⟩
Disease Models & Mechanisms, 2012, 5 (6), pp.852-9. ⟨10.1242/dmm.009746⟩
Disease Models & Mechanisms, 2012, 5 (6), pp.852-859. ⟨10.1242/DMM.009746⟩

Summary Myotubular myopathy (MTM) is a severe congenital muscle disease characterized by profound weakness, early respiratory failure and premature lethality. MTM is defined by muscle biopsy findings that include centralized nuclei and disorganizatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60810bb1082a67fa47a6bf4f8658be3b
http://dmm.biologists.org/content/5/6/852

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Touch responsiveness in zebrafish requires voltage-gated calcium channel 2.1b

Autor: Mathieu Lachance, Louis Saint-Amant, Joel Ryan, Ian G. Woods, Alexander F. Schier, Sean E. Low

Publikováno v: Journal of Neurophysiology. 108:148-159

The molecular and physiological basis of the touch-unresponsive zebrafish mutant fakir has remained elusive. Here we report that the fakir phenotype is caused by a missense mutation in the gene encoding voltage-gated calcium channel 2.1b ( CACNA1Ab).

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::132325c792b188ac79956e64417f88ee
https://doi.org/10.1152/jn.00839.2011

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Connexin 39.9 Protein Is Necessary for Coordinated Activation of Slow-twitch Muscle and Normal Behavior in Zebrafish

Autor: Koichi Kawakami, Louis Saint-Amant, Kazutoyo Ogino, John Y. Kuwada, Kazuhide Asakawa, Yuriko Naganawa, Yu Kawakami, Hiromi Hirata, Weibin Zhou, Kenta Yamada, Sean E. Low, Hua Wen, Akira Muto, Shawn M. Sprague, Wilson W. Cui

Publikováno v: Journal of Biological Chemistry. 287:1080-1089

In many tissues and organs, connexin proteins assemble between neighboring cells to form gap junctions. These gap junctions facilitate direct intercellular communication between adjoining cells, allowing for the transmission of both chemical and elec

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bea5199e1ab37b07babe990ced95ce13
https://doi.org/10.1074/jbc.m111.308205

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TRPM7 Is Required within Zebrafish Sensory Neurons for the Activation of Touch-Evoked Escape Behaviors

Autor: Jeremy W. Linsley, Louis Saint-Amant, Wilson W. Cui, Richard I. Hume, Eric J. Horstick, Kimberly Amburgey, Weibin Zhou, John Y. Kuwada, Hiromi Hirata, Sean E. Low, Shawn M. Sprague

Publikováno v: The Journal of Neuroscience. 31:11633-11644

Mutations in the gene encoding TRPM7 (trpm7), a member of the Transient Receptor Potential (TRP) superfamily of cation channels that possesses an enzymatically active kinase at its C terminus, cause the touch-unresponsive zebrafish mutanttouchdown. W

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ed49ed74441f4148e6aceb6cabe5245
https://doi.org/10.1523/jneurosci.4950-10.2011

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Zebrafish MTMR14 is required for excitation–contraction coupling, developmental motor function and the regulation of autophagy

Autor: Sean E. Low, A.S. Busta, Eva L. Feldman, James J. Dowling

Publikováno v: Human Molecular Genetics. 19:2668-2681

Myotubularins are a family of dual-specificity phosphatases that act to modify phosphoinositides and regulate membrane traffic. Mutations in several myotubularins are associated with human disease. Sequence changes in MTM1 and MTMR14 (also known as J

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::905c82bbdb1407789b34b452a2074793
https://doi.org/10.1093/hmg/ddq153

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Amino acid variations resulting in functional and nonfunctional zebrafish P2X1 and P2X5.1 receptors

Autor: John Y. Kuwada, Richard I. Hume, Sean E. Low

Publikováno v: Purinergic Signalling. 4:383-392

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 functional homomeric receptors. We isolated new cDNA clones for these P2X receptors that r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f57b49c12330f558ab7e165445d3823
https://doi.org/10.1007/s11302-008-9124-0

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RING finger protein 121 facilitates the degradation and membrane localization of voltage-gated sodium channels

Autor: Sean E. Low, Kazutoyo Ogino, John Y. Kuwada, Weibin Zhou, Kazuhide Asakawa, Junichi Nakai, Hiromi Hirata, Louis Saint-Amant, Kenta Yamada, Akira Muto, Koichi Kawakami

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America. 112(9)

Following their synthesis in the endoplasmic reticulum (ER), voltage-gated sodium channels (NaV) are transported to the membranes of excitable cells, where they often cluster, such as at the axon initial segment of neurons. Although the mechanisms by

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e90c379aa1fc310efa5e3108746cfd0
https://pubmed.ncbi.nlm.nih.gov/25691753

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The ZebrafishshockedGene Encodes a Glycine Transporter and Is Essential for the Function of Early Neural Circuits in the CNS

Autor: John Y. Kuwada, Sean E. Low, Wilson W. Cui, Richard I. Hume, Hiromi Hirata, Louis Saint-Amant, Robert Geisler

Publikováno v: The Journal of Neuroscience. 25:6610-6620

shocked(sho) is a zebrafish mutation that causes motor deficits attributable to CNS defects during the first2dof development. Mutant embryos display reduced spontaneous coiling of the trunk, diminished escape responses when touched, and an absence of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f5594cb2612b4887b7b3558f3ac2409
https://doi.org/10.1523/jneurosci.5009-04.2005

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touché Is required for touch-evoked generator potentials within vertebrate sensory neurons

Autor: Joel Ryan, Weibin Zhou, Hiromi Hirata, Wilson W. Cui, Richard I. Hume, Shawn M. Sprague, John Y. Kuwada, Louis Saint-Amant, Sean E. Low

Publikováno v: The Journal of neuroscience : the official journal of the Society for Neuroscience. 30(28)

The process by which light touch in vertebrates is transformed into an electrical response in cutaneous mechanosensitive neurons is a largely unresolved question. To address this question we undertook a forward genetic screen in zebrafish (Danio reri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88c85f7a8097cb54de682c750a38cb68
https://pubmed.ncbi.nlm.nih.gov/20631165

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