CRISPR/Cas9 technology in the modeling of and evaluation of possible treatments for Niemann-Pick C
Niemann–Pick disease type C (NPC) is a rare neurodegenerative condition resulted from mutations in NPC1 and NPC2 genes. This cellular lipid transferring disorder mainly involves endocytosed cholesterol trafficking. The accumulation of cholesterol and glycolipids in late endosomes and lysosomes res...
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| creator | Reyhani-Ardabili, Mehran Fathi, Mohadeseh Ghafouri-Fard, Soudeh |
| description | Niemann–Pick disease type C (NPC) is a rare neurodegenerative condition resulted from mutations in
NPC1
and
NPC2
genes. This cellular lipid transferring disorder mainly involves endocytosed cholesterol trafficking. The accumulation of cholesterol and glycolipids in late endosomes and lysosomes results in progressive neurodegeneration and death. Recently, genome editing technologies, particularly CRISPR/Cas9 have offered the opportunity to create disease models to screen novel therapeutic options for this disorder. Moreover, these methods have been used for the purpose of gene therapy. This review summarizes the studies that focused on the application of CRISPR/Cas9 technology for exploring the mechanism of intracellular cholesterol transferring, and screening of novel agents for treatment of NPC. |
| doi_str_mv | 10.1007/s11033-024-09801-1 |
| format | Article |
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NPC1
and
NPC2
genes. This cellular lipid transferring disorder mainly involves endocytosed cholesterol trafficking. The accumulation of cholesterol and glycolipids in late endosomes and lysosomes results in progressive neurodegeneration and death. Recently, genome editing technologies, particularly CRISPR/Cas9 have offered the opportunity to create disease models to screen novel therapeutic options for this disorder. Moreover, these methods have been used for the purpose of gene therapy. This review summarizes the studies that focused on the application of CRISPR/Cas9 technology for exploring the mechanism of intracellular cholesterol transferring, and screening of novel agents for treatment of NPC.</description><identifier>ISSN: 0301-4851</identifier><identifier>ISSN: 1573-4978</identifier><identifier>EISSN: 1573-4978</identifier><identifier>DOI: 10.1007/s11033-024-09801-1</identifier><identifier>PMID: 39033258</identifier><language>eng</language><publisher>Dordrecht: Springer Netherlands</publisher><subject>Animal Anatomy ; Animal Biochemistry ; Animals ; Apoptosis ; Ataxia ; Biomedical and Life Sciences ; Brain diseases ; Cell adhesion & migration ; Cholesterol ; Cholesterol - metabolism ; Convulsions & seizures ; CRISPR ; CRISPR-Cas Systems - genetics ; Disease Models, Animal ; Endosomes ; Enzymes ; Gene Editing - methods ; Gene therapy ; Genetic disorders ; Genetic engineering ; Genetic Therapy - methods ; Genome editing ; Genomes ; Glycolipids ; Histology ; Humans ; Life Sciences ; Lysosomes ; Metabolic disorders ; Molecular biology ; Morphology ; Mutation ; Neurodegeneration ; Niemann-Pick C1 Protein ; Niemann-Pick disease ; Niemann-Pick Disease, Type C - genetics ; Niemann-Pick Disease, Type C - metabolism ; Niemann-Pick Disease, Type C - therapy ; Npc1 protein ; Protein transport ; Proteins ; Review</subject><ispartof>Molecular biology reports, 2024-12, Vol.51 (1), p.828, Article 828</ispartof><rights>The Author(s), under exclusive licence to Springer Nature B.V. 2024. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.</rights><rights>2024. The Author(s), under exclusive licence to Springer Nature B.V.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c256t-d482805787791eed4fe23b2f2eba23ff35555cd3173be6ba72a32a74a2da23553</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s11033-024-09801-1$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s11033-024-09801-1$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,27924,27925,41488,42557,51319</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/39033258$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Reyhani-Ardabili, Mehran</creatorcontrib><creatorcontrib>Fathi, Mohadeseh</creatorcontrib><creatorcontrib>Ghafouri-Fard, Soudeh</creatorcontrib><title>CRISPR/Cas9 technology in the modeling of and evaluation of possible treatments for Niemann-Pick C</title><title>Molecular biology reports</title><addtitle>Mol Biol Rep</addtitle><addtitle>Mol Biol Rep</addtitle><description>Niemann–Pick disease type C (NPC) is a rare neurodegenerative condition resulted from mutations in
NPC1
and
NPC2
genes. This cellular lipid transferring disorder mainly involves endocytosed cholesterol trafficking. The accumulation of cholesterol and glycolipids in late endosomes and lysosomes results in progressive neurodegeneration and death. Recently, genome editing technologies, particularly CRISPR/Cas9 have offered the opportunity to create disease models to screen novel therapeutic options for this disorder. Moreover, these methods have been used for the purpose of gene therapy. This review summarizes the studies that focused on the application of CRISPR/Cas9 technology for exploring the mechanism of intracellular cholesterol transferring, and screening of novel agents for treatment of NPC.</description><subject>Animal Anatomy</subject><subject>Animal Biochemistry</subject><subject>Animals</subject><subject>Apoptosis</subject><subject>Ataxia</subject><subject>Biomedical and Life Sciences</subject><subject>Brain diseases</subject><subject>Cell adhesion & migration</subject><subject>Cholesterol</subject><subject>Cholesterol - metabolism</subject><subject>Convulsions & seizures</subject><subject>CRISPR</subject><subject>CRISPR-Cas Systems - genetics</subject><subject>Disease Models, Animal</subject><subject>Endosomes</subject><subject>Enzymes</subject><subject>Gene Editing - methods</subject><subject>Gene therapy</subject><subject>Genetic disorders</subject><subject>Genetic engineering</subject><subject>Genetic Therapy - methods</subject><subject>Genome editing</subject><subject>Genomes</subject><subject>Glycolipids</subject><subject>Histology</subject><subject>Humans</subject><subject>Life Sciences</subject><subject>Lysosomes</subject><subject>Metabolic disorders</subject><subject>Molecular biology</subject><subject>Morphology</subject><subject>Mutation</subject><subject>Neurodegeneration</subject><subject>Niemann-Pick C1 Protein</subject><subject>Niemann-Pick disease</subject><subject>Niemann-Pick Disease, Type C - genetics</subject><subject>Niemann-Pick Disease, Type C - metabolism</subject><subject>Niemann-Pick Disease, Type C - therapy</subject><subject>Npc1 protein</subject><subject>Protein transport</subject><subject>Proteins</subject><subject>Review</subject><issn>0301-4851</issn><issn>1573-4978</issn><issn>1573-4978</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kUlPwzAQhS0EglL4AxyQJS5cQr3EtXNEEUslBBXL2XKSSQkkdrETpP57XMoiccAXSzPfe_bMQ-iIkjNKiJwESgnnCWFpQjJFaEK30IgKyZM0k2objQiPxVQJuof2Q3ghhKRUil20x7MoZEKNUJHfzx7m95PchAz3UD5b17rFCjcW98-AO1dB29gFdjU2tsLwbtrB9I2z68rShdAULeDeg-k7sH3AtfP4toHOWJvMm_IV5wdopzZtgMOve4yeLi8e8-vk5u5qlp_fJCUT0z6pUsUUEVJJmVGAKq2B8YLVDArDeF1zEU9ZcSp5AdPCSGY4MzI1rIp9IfgYnW58l969DRB63TWhhLY1FtwQNCeKMzqVhEX05A_64gZv4-_WFFNTmok0UmxDlT4O6qHWS990xq80JXqdgN4koGMC-jMBTaPo-Mt6KDqofiTfK48A3wAhtuwC_O_b_9h-ALsvj2M</recordid><startdate>20241201</startdate><enddate>20241201</enddate><creator>Reyhani-Ardabili, Mehran</creator><creator>Fathi, Mohadeseh</creator><creator>Ghafouri-Fard, Soudeh</creator><general>Springer Netherlands</general><general>Springer Nature B.V</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TK</scope><scope>7TM</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20241201</creationdate><title>CRISPR/Cas9 technology in the modeling of and evaluation of possible treatments for Niemann-Pick C</title><author>Reyhani-Ardabili, Mehran ; Fathi, Mohadeseh ; Ghafouri-Fard, Soudeh</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c256t-d482805787791eed4fe23b2f2eba23ff35555cd3173be6ba72a32a74a2da23553</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2024</creationdate><topic>Animal Anatomy</topic><topic>Animal Biochemistry</topic><topic>Animals</topic><topic>Apoptosis</topic><topic>Ataxia</topic><topic>Biomedical and Life Sciences</topic><topic>Brain diseases</topic><topic>Cell adhesion & migration</topic><topic>Cholesterol</topic><topic>Cholesterol - metabolism</topic><topic>Convulsions & seizures</topic><topic>CRISPR</topic><topic>CRISPR-Cas Systems - genetics</topic><topic>Disease Models, Animal</topic><topic>Endosomes</topic><topic>Enzymes</topic><topic>Gene Editing - methods</topic><topic>Gene therapy</topic><topic>Genetic disorders</topic><topic>Genetic engineering</topic><topic>Genetic Therapy - methods</topic><topic>Genome editing</topic><topic>Genomes</topic><topic>Glycolipids</topic><topic>Histology</topic><topic>Humans</topic><topic>Life Sciences</topic><topic>Lysosomes</topic><topic>Metabolic disorders</topic><topic>Molecular biology</topic><topic>Morphology</topic><topic>Mutation</topic><topic>Neurodegeneration</topic><topic>Niemann-Pick C1 Protein</topic><topic>Niemann-Pick disease</topic><topic>Niemann-Pick Disease, Type C - genetics</topic><topic>Niemann-Pick Disease, Type C - metabolism</topic><topic>Niemann-Pick Disease, Type C - therapy</topic><topic>Npc1 protein</topic><topic>Protein transport</topic><topic>Proteins</topic><topic>Review</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Reyhani-Ardabili, Mehran</creatorcontrib><creatorcontrib>Fathi, Mohadeseh</creatorcontrib><creatorcontrib>Ghafouri-Fard, Soudeh</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Molecular biology reports</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Reyhani-Ardabili, Mehran</au><au>Fathi, Mohadeseh</au><au>Ghafouri-Fard, Soudeh</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>CRISPR/Cas9 technology in the modeling of and evaluation of possible treatments for Niemann-Pick C</atitle><jtitle>Molecular biology reports</jtitle><stitle>Mol Biol Rep</stitle><addtitle>Mol Biol Rep</addtitle><date>2024-12-01</date><risdate>2024</risdate><volume>51</volume><issue>1</issue><spage>828</spage><pages>828-</pages><artnum>828</artnum><issn>0301-4851</issn><issn>1573-4978</issn><eissn>1573-4978</eissn><abstract>Niemann–Pick disease type C (NPC) is a rare neurodegenerative condition resulted from mutations in
NPC1
and
NPC2
genes. This cellular lipid transferring disorder mainly involves endocytosed cholesterol trafficking. The accumulation of cholesterol and glycolipids in late endosomes and lysosomes results in progressive neurodegeneration and death. Recently, genome editing technologies, particularly CRISPR/Cas9 have offered the opportunity to create disease models to screen novel therapeutic options for this disorder. Moreover, these methods have been used for the purpose of gene therapy. This review summarizes the studies that focused on the application of CRISPR/Cas9 technology for exploring the mechanism of intracellular cholesterol transferring, and screening of novel agents for treatment of NPC.</abstract><cop>Dordrecht</cop><pub>Springer Netherlands</pub><pmid>39033258</pmid><doi>10.1007/s11033-024-09801-1</doi></addata></record> |
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| subjects | Animal Anatomy Animal Biochemistry Animals Apoptosis Ataxia Biomedical and Life Sciences Brain diseases Cell adhesion & migration Cholesterol Cholesterol - metabolism Convulsions & seizures CRISPR CRISPR-Cas Systems - genetics Disease Models, Animal Endosomes Enzymes Gene Editing - methods Gene therapy Genetic disorders Genetic engineering Genetic Therapy - methods Genome editing Genomes Glycolipids Histology Humans Life Sciences Lysosomes Metabolic disorders Molecular biology Morphology Mutation Neurodegeneration Niemann-Pick C1 Protein Niemann-Pick disease Niemann-Pick Disease, Type C - genetics Niemann-Pick Disease, Type C - metabolism Niemann-Pick Disease, Type C - therapy Npc1 protein Protein transport Proteins Review |
| title | CRISPR/Cas9 technology in the modeling of and evaluation of possible treatments for Niemann-Pick C |
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