國立虎尾科技大學 |

Characterization of a Zebrafish Model of X-linked Centronuclear Myopathy for Therapeutic Drug Development.

紀錄類型:	書目-語言資料,手稿 : Monograph/item
正題名/作者:	Characterization of a Zebrafish Model of X-linked Centronuclear Myopathy for Therapeutic Drug Development./
作者:	Volpatti, Jonathan.
面頁冊數:	1 online resource (83 pages)
附註:	Source: Masters Abstracts International, Volume: 57-01.
標題:	Molecular biology. -
電子資源:	click for full text (PQDT)
ISBN:	9780355452945

Characterization of a Zebrafish Model of X-linked Centronuclear Myopathy for Therapeutic Drug Development.
Volpatti, Jonathan.

Characterization of a Zebrafish Model of X-linked Centronuclear Myopathy for Therapeutic Drug Development. - 1 online resource (83 pages)

Source: Masters Abstracts International, Volume: 57-01.

Thesis (M.Sc.)--University of Toronto (Canada), 2017.

Includes bibliographical references

X-linked centronuclear myopathy (XLCNM) is a congenital skeletal muscle disorder caused by mutations in MTM1. Despite being associated with a high rate of neonatal mortality there are currently no effective therapies for this disorder. MTM1 is a phosphoinositide 3-phosphatase that antagonizes class II and III phosphatidylinositol 3-kinases (PI3K). Loss of Pik3c2b, a class II PI3K, rescues lethality in Mtm1 knockout mice. Importantly, Pik3c2b knockout mice are viable and have no apparent phenotype. Therefore, pharmacological inhibitors of PIK3C2B have the potential to be highly effective in the treatment of XLCNM. I have characterized an mtm1 mutant using the zebrafish, Danio rerio, and found that PIK3C2B inhibition improves the mtm1 mutant phenotype. In parallel, a phenotypic drug screen identified valproic acid as a suppressor of an mtm1 mutant phenotype. The work presented herein demonstrates that PIK3C2B inhibitors and drugs like valproic acid may represent putative therapeutics for translation into MTM1 patients.

Electronic reproduction.
Ann Arbor, Mich. :
ProQuest,
2018

Mode of access: World Wide Web

ISBN: 9780355452945Subjects--Topical Terms:

583443
Molecular biology.
Index Terms--Genre/Form:

554714
Electronic books.

Characterization of a Zebrafish Model of X-linked Centronuclear Myopathy for Therapeutic Drug Development.
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245 1 0 $a Characterization of a Zebrafish Model of X-linked Centronuclear Myopathy for Therapeutic Drug Development.
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500 $a Source: Masters Abstracts International, Volume: 57-01.
500 $a Adviser: James J. Dowling.
502 $a Thesis (M.Sc.)--University of Toronto (Canada), 2017.
504 $a Includes bibliographical references
520 $a X-linked centronuclear myopathy (XLCNM) is a congenital skeletal muscle disorder caused by mutations in MTM1. Despite being associated with a high rate of neonatal mortality there are currently no effective therapies for this disorder. MTM1 is a phosphoinositide 3-phosphatase that antagonizes class II and III phosphatidylinositol 3-kinases (PI3K). Loss of Pik3c2b, a class II PI3K, rescues lethality in Mtm1 knockout mice. Importantly, Pik3c2b knockout mice are viable and have no apparent phenotype. Therefore, pharmacological inhibitors of PIK3C2B have the potential to be highly effective in the treatment of XLCNM. I have characterized an mtm1 mutant using the zebrafish, Danio rerio, and found that PIK3C2B inhibition improves the mtm1 mutant phenotype. In parallel, a phenotypic drug screen identified valproic acid as a suppressor of an mtm1 mutant phenotype. The work presented herein demonstrates that PIK3C2B inhibitors and drugs like valproic acid may represent putative therapeutics for translation into MTM1 patients.
533 $a Electronic reproduction. $b Ann Arbor, Mich. : $c ProQuest, $d 2018
538 $a Mode of access: World Wide Web
650 4 $a Molecular biology. $3 583443
650 4 $a Genetics. $3 578972
655 7 $a Electronic books. $2 local $3 554714
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690 $a 0369
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