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Mouse models for the neurodegenerative lysosomal storage diseases Niemann-Pick types C1 & C2 and classical late infantile neuronal ceroid lipofuscinosis

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TitleInfo (ID = T-1)
Title
Mouse models for the neurodegenerative lysosomal storage diseases Niemann-Pick types C1 & C2 and classical late infantile neuronal ceroid lipofuscinosis
SubTitle
PartName
PartNumber
NonSort
Identifier
ETD_1668
Identifier (type = hdl)
http://hdl.rutgers.edu/1782.2/rucore10001600001.ETD.000051199
Language (objectPart = )
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eng
Genre (authority = marcgt)
theses
Subject (ID = SBJ-1); (authority = RUETD)
Topic
Microbiology and Molecular Genetics
Subject (ID = SBJ-2); (authority = ETD-LCSH)
Topic
Lysosomal storage diseases
Abstract
Use of mutant mice provides us with an excellent tool for investigation of lysosomal diseases such as classical late infantile neuronal ceroid lipofuscinosis (cLINCL) and Niemann-Pick types C1 and C2 (NPC1 and NPC2). These are recessive devastating disorders in children that predominantly affect the central nervous system and result in progressive neurodegeneration and early death. Suitable mouse models enable us to assess behavioral, pathological, cellular, and molecular abnormalities associated with disease and to determine the efficacy of different therapeutic approaches. In addition, these models can be used to study the underlying function of the normal genes.
This thesis addresses the generation and characterization of mouse models for these diseases. These include creation of gene-targeted models for cLINCL and NPC2 diseases. Disease progression was monitored by assessing gross phenotype (weight), behavioral parameters such as trembling, gait analysis and survival. This and other analyses indicate that the gene targeted mice are good models for the human disease. We also created a mouse model with mutations in both Npc1 and Npc2. Comparison of the single and double deficient NPC mutants indicate that the NPC1 and NPC2 proteins function in a common pathway. We also created mutant mice that expressed different levels of tripeptidyl peptidase 1 (TPP1), the protein deficient in cLINCL. This allowed estimation of how much protein is necessary to achieve therapeutic benefits.
Immunohistochemistry serves an important role in studying these mouse models and determining the distribution of the normal proteins. This is especially important when looking at protein distributions within the brain following gene or enzyme replacement therapy. We describe development of procedures to visualize TPP1, NPC1, and NPC2 in mouse brain.
PhysicalDescription
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electronic resource
Extent
x, 71 p. : ill.
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application/pdf
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text/xml
Note (type = degree)
M.S.
Note (type = bibliography)
Includes bibliographical references (p. 63-71)
Note (type = statement of responsibility)
by Mukarram S. El-Banna
Name (ID = NAME-1); (type = personal)
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El-Banna
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Mukarram S.
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1979
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author
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Mukarram S. El-Banna
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Lobel
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Peter
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chair
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Advisory Committee
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Peter Lobel
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Stock
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Ann
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internal member
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Advisory Committee
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Ann M Stock
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Millonig
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Jim
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internal member
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Advisory Committee
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Jim Millonig
Name (ID = NAME-1); (type = corporate)
NamePart
Rutgers University
Role
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degree grantor
Name (ID = NAME-2); (type = corporate)
NamePart
Graduate School - New Brunswick
Role
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school
OriginInfo
DateCreated (point = ); (qualifier = exact)
2009
DateOther (qualifier = exact); (type = degree)
2009-05
Place
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xx
Location
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NjNbRU
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TitleInfo
Title
Rutgers University Electronic Theses and Dissertations
Identifier (type = RULIB)
ETD
RelatedItem (type = host)
TitleInfo
Title
Graduate School - New Brunswick Electronic Theses and Dissertations
Identifier (type = local)
rucore19991600001
Identifier (type = doi)
doi:10.7282/T3GH9J6B
Genre (authority = ExL-Esploro)
ETD graduate
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The author owns the copyright to this work.
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Open
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Non-exclusive ETD license
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Author Agreement License
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I hereby grant to the Rutgers University Libraries and to my school the non-exclusive right to archive, reproduce and distribute my thesis or dissertation, in whole or in part, and/or my abstract, in whole or in part, in and from an electronic format, subject to the release date subsequently stipulated in this submittal form and approved by my school. I represent and stipulate that the thesis or dissertation and its abstract are my original work, that they do not infringe or violate any rights of others, and that I make these grants as the sole owner of the rights to my thesis or dissertation and its abstract. I represent that I have obtained written permissions, when necessary, from the owner(s) of each third party copyrighted matter to be included in my thesis or dissertation and will supply copies of such upon request by my school. I acknowledge that RU ETD and my school will not distribute my thesis or dissertation or its abstract if, in their reasonable judgment, they believe all such rights have not been secured. I acknowledge that I retain ownership rights to the copyright of my work. I also retain the right to use all or part of this thesis or dissertation in future works, such as articles or books.
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1669120
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