Lysosomal acid lipase deficiency impairs regulation of ABCA1 gene and formation of high density lipoproteins in cholesteryl ester storage disease.
Identifieur interne : 000157 ( Ncbi/Merge ); précédent : 000156; suivant : 000158Lysosomal acid lipase deficiency impairs regulation of ABCA1 gene and formation of high density lipoproteins in cholesteryl ester storage disease.
Auteurs : Kristin L. Bowden [Canada] ; Nicolas J. Bilbey ; Leanne M. Bilawchuk ; Emmanuel Boadu ; Rohini Sidhu ; Daniel S. Ory ; Hong Du ; Teddy Chan ; Gordon A. FrancisSource :
- The Journal of biological chemistry [ 1083-351X ] ; 2011.
Descripteurs français
- KwdFr :
- Chloroquine (métabolisme), Cholestérol (métabolisme), Fibroblastes (métabolisme), Humains, Lipoprotéines (métabolisme), Lipoprotéines HDL (métabolisme), Maladie de Wolman (génétique), Maladie de Wolman (métabolisme), Maladie de stockage des esters de cholestérol (génétique), Maladie de stockage des esters de cholestérol (métabolisme), Milieux de culture conditionnés (pharmacologie), Mutation, Peau (métabolisme), Phospholipides (métabolisme), Protéines recombinantes (métabolisme), Stérols (), Transporteur-1 à cassette liant l'ATP, Transporteurs ABC (métabolisme).
- MESH :
- génétique : Maladie de Wolman, Maladie de stockage des esters de cholestérol.
- métabolisme : Chloroquine, Cholestérol, Fibroblastes, Lipoprotéines, Lipoprotéines HDL, Maladie de Wolman, Maladie de stockage des esters de cholestérol, Peau, Phospholipides, Protéines recombinantes, Transporteurs ABC.
- pharmacologie : Milieux de culture conditionnés.
- Humains, Mutation, Stérols, Transporteur-1 à cassette liant l'ATP.
English descriptors
- KwdEn :
- ATP Binding Cassette Transporter 1, ATP-Binding Cassette Transporters (metabolism), Chloroquine (metabolism), Cholesterol (metabolism), Cholesterol Ester Storage Disease (genetics), Cholesterol Ester Storage Disease (metabolism), Culture Media, Conditioned (pharmacology), Fibroblasts (metabolism), Humans, Lipoproteins (metabolism), Lipoproteins, HDL (metabolism), Mutation, Phospholipids (metabolism), Recombinant Proteins (metabolism), Skin (metabolism), Sterols (chemistry), Wolman Disease (genetics), Wolman Disease (metabolism).
- MESH :
- chemical , chemistry : Sterols.
- chemical , metabolism : ATP-Binding Cassette Transporters, Chloroquine, Cholesterol, Lipoproteins, Lipoproteins, HDL, Phospholipids, Recombinant Proteins.
- chemical , pharmacology : Culture Media, Conditioned.
- chemical : ATP Binding Cassette Transporter 1.
- genetics : Cholesterol Ester Storage Disease, Wolman Disease.
- metabolism : Cholesterol Ester Storage Disease, Fibroblasts, Skin, Wolman Disease.
- Humans, Mutation.
Abstract
ATP-binding cassette transporter A1 (ABCA1) mediates the rate-limiting step in high density lipoprotein (HDL) particle formation, and its expression is regulated primarily by oxysterol-dependent activation of liver X receptors. We previously reported that ABCA1 expression and HDL formation are impaired in the lysosomal cholesterol storage disorder Niemann-Pick disease type C1 and that plasma HDL-C is low in the majority of Niemann-Pick disease type C patients. Here, we show that ABCA1 regulation and activity are also impaired in cholesteryl ester storage disease (CESD), caused by mutations in the LIPA gene that result in less than 5% of normal lysosomal acid lipase (LAL) activity. Fibroblasts from patients with CESD showed impaired up-regulation of ABCA1 in response to low density lipoprotein (LDL) loading, reduced phospholipid and cholesterol efflux to apolipoprotein A-I, and reduced α-HDL particle formation. Treatment of normal fibroblasts with chloroquine to inhibit LAL activity reduced ABCA1 expression and activity, similar to that of CESD cells. Liver X receptor agonist treatment of CESD cells corrected ABCA1 expression but failed to correct LDL cholesteryl ester hydrolysis and cholesterol efflux to apoA-I. LDL-induced production of 27-hydroxycholesterol was reduced in CESD compared with normal fibroblasts. Treatment with conditioned medium containing LAL from normal fibroblasts or with recombinant human LAL rescued ABCA1 expression, apoA-I-mediated cholesterol efflux, HDL particle formation, and production of 27-hydroxycholesterol by CESD cells. These results provide further evidence that the rate of release of cholesterol from late endosomes/lysosomes is a critical regulator of ABCA1 expression and activity, and an explanation for the hypoalphalipoproteinemia seen in CESD patients.
DOI: 10.1074/jbc.M111.274381
PubMed: 21757691
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 000377
- to stream PubMed, to step Curation: 000377
- to stream PubMed, to step Checkpoint: 000365
Links to Exploration step
pubmed:21757691Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Lysosomal acid lipase deficiency impairs regulation of ABCA1 gene and formation of high density lipoproteins in cholesteryl ester storage disease.</title>
<author><name sortKey="Bowden, Kristin L" sort="Bowden, Kristin L" uniqKey="Bowden K" first="Kristin L" last="Bowden">Kristin L. Bowden</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Medicine, Institute for Heart and Lung Health, St. Paul's Hospital, Vancouver, British Columbia V6Z 1Y6, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medicine, Institute for Heart and Lung Health, St. Paul's Hospital, Vancouver, British Columbia V6Z 1Y6</wicri:regionArea>
<wicri:noRegion>British Columbia V6Z 1Y6</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bilbey, Nicolas J" sort="Bilbey, Nicolas J" uniqKey="Bilbey N" first="Nicolas J" last="Bilbey">Nicolas J. Bilbey</name>
</author>
<author><name sortKey="Bilawchuk, Leanne M" sort="Bilawchuk, Leanne M" uniqKey="Bilawchuk L" first="Leanne M" last="Bilawchuk">Leanne M. Bilawchuk</name>
</author>
<author><name sortKey="Boadu, Emmanuel" sort="Boadu, Emmanuel" uniqKey="Boadu E" first="Emmanuel" last="Boadu">Emmanuel Boadu</name>
</author>
<author><name sortKey="Sidhu, Rohini" sort="Sidhu, Rohini" uniqKey="Sidhu R" first="Rohini" last="Sidhu">Rohini Sidhu</name>
</author>
<author><name sortKey="Ory, Daniel S" sort="Ory, Daniel S" uniqKey="Ory D" first="Daniel S" last="Ory">Daniel S. Ory</name>
</author>
<author><name sortKey="Du, Hong" sort="Du, Hong" uniqKey="Du H" first="Hong" last="Du">Hong Du</name>
</author>
<author><name sortKey="Chan, Teddy" sort="Chan, Teddy" uniqKey="Chan T" first="Teddy" last="Chan">Teddy Chan</name>
</author>
<author><name sortKey="Francis, Gordon A" sort="Francis, Gordon A" uniqKey="Francis G" first="Gordon A" last="Francis">Gordon A. Francis</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2011">2011</date>
<idno type="RBID">pubmed:21757691</idno>
<idno type="pmid">21757691</idno>
<idno type="doi">10.1074/jbc.M111.274381</idno>
<idno type="wicri:Area/PubMed/Corpus">000377</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000377</idno>
<idno type="wicri:Area/PubMed/Curation">000377</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000377</idno>
<idno type="wicri:Area/PubMed/Checkpoint">000365</idno>
<idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000365</idno>
<idno type="wicri:Area/Ncbi/Merge">000157</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">Lysosomal acid lipase deficiency impairs regulation of ABCA1 gene and formation of high density lipoproteins in cholesteryl ester storage disease.</title>
<author><name sortKey="Bowden, Kristin L" sort="Bowden, Kristin L" uniqKey="Bowden K" first="Kristin L" last="Bowden">Kristin L. Bowden</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Medicine, Institute for Heart and Lung Health, St. Paul's Hospital, Vancouver, British Columbia V6Z 1Y6, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medicine, Institute for Heart and Lung Health, St. Paul's Hospital, Vancouver, British Columbia V6Z 1Y6</wicri:regionArea>
<wicri:noRegion>British Columbia V6Z 1Y6</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bilbey, Nicolas J" sort="Bilbey, Nicolas J" uniqKey="Bilbey N" first="Nicolas J" last="Bilbey">Nicolas J. Bilbey</name>
</author>
<author><name sortKey="Bilawchuk, Leanne M" sort="Bilawchuk, Leanne M" uniqKey="Bilawchuk L" first="Leanne M" last="Bilawchuk">Leanne M. Bilawchuk</name>
</author>
<author><name sortKey="Boadu, Emmanuel" sort="Boadu, Emmanuel" uniqKey="Boadu E" first="Emmanuel" last="Boadu">Emmanuel Boadu</name>
</author>
<author><name sortKey="Sidhu, Rohini" sort="Sidhu, Rohini" uniqKey="Sidhu R" first="Rohini" last="Sidhu">Rohini Sidhu</name>
</author>
<author><name sortKey="Ory, Daniel S" sort="Ory, Daniel S" uniqKey="Ory D" first="Daniel S" last="Ory">Daniel S. Ory</name>
</author>
<author><name sortKey="Du, Hong" sort="Du, Hong" uniqKey="Du H" first="Hong" last="Du">Hong Du</name>
</author>
<author><name sortKey="Chan, Teddy" sort="Chan, Teddy" uniqKey="Chan T" first="Teddy" last="Chan">Teddy Chan</name>
</author>
<author><name sortKey="Francis, Gordon A" sort="Francis, Gordon A" uniqKey="Francis G" first="Gordon A" last="Francis">Gordon A. Francis</name>
</author>
</analytic>
<series><title level="j">The Journal of biological chemistry</title>
<idno type="eISSN">1083-351X</idno>
<imprint><date when="2011" type="published">2011</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>ATP Binding Cassette Transporter 1</term>
<term>ATP-Binding Cassette Transporters (metabolism)</term>
<term>Chloroquine (metabolism)</term>
<term>Cholesterol (metabolism)</term>
<term>Cholesterol Ester Storage Disease (genetics)</term>
<term>Cholesterol Ester Storage Disease (metabolism)</term>
<term>Culture Media, Conditioned (pharmacology)</term>
<term>Fibroblasts (metabolism)</term>
<term>Humans</term>
<term>Lipoproteins (metabolism)</term>
<term>Lipoproteins, HDL (metabolism)</term>
<term>Mutation</term>
<term>Phospholipids (metabolism)</term>
<term>Recombinant Proteins (metabolism)</term>
<term>Skin (metabolism)</term>
<term>Sterols (chemistry)</term>
<term>Wolman Disease (genetics)</term>
<term>Wolman Disease (metabolism)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Chloroquine (métabolisme)</term>
<term>Cholestérol (métabolisme)</term>
<term>Fibroblastes (métabolisme)</term>
<term>Humains</term>
<term>Lipoprotéines (métabolisme)</term>
<term>Lipoprotéines HDL (métabolisme)</term>
<term>Maladie de Wolman (génétique)</term>
<term>Maladie de Wolman (métabolisme)</term>
<term>Maladie de stockage des esters de cholestérol (génétique)</term>
<term>Maladie de stockage des esters de cholestérol (métabolisme)</term>
<term>Milieux de culture conditionnés (pharmacologie)</term>
<term>Mutation</term>
<term>Peau (métabolisme)</term>
<term>Phospholipides (métabolisme)</term>
<term>Protéines recombinantes (métabolisme)</term>
<term>Stérols ()</term>
<term>Transporteur-1 à cassette liant l'ATP</term>
<term>Transporteurs ABC (métabolisme)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="chemistry" xml:lang="en"><term>Sterols</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>ATP-Binding Cassette Transporters</term>
<term>Chloroquine</term>
<term>Cholesterol</term>
<term>Lipoproteins</term>
<term>Lipoproteins, HDL</term>
<term>Phospholipids</term>
<term>Recombinant Proteins</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="pharmacology" xml:lang="en"><term>Culture Media, Conditioned</term>
</keywords>
<keywords scheme="MESH" type="chemical" xml:lang="en"><term>ATP Binding Cassette Transporter 1</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Cholesterol Ester Storage Disease</term>
<term>Wolman Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Maladie de Wolman</term>
<term>Maladie de stockage des esters de cholestérol</term>
</keywords>
<keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Cholesterol Ester Storage Disease</term>
<term>Fibroblasts</term>
<term>Skin</term>
<term>Wolman Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Chloroquine</term>
<term>Cholestérol</term>
<term>Fibroblastes</term>
<term>Lipoprotéines</term>
<term>Lipoprotéines HDL</term>
<term>Maladie de Wolman</term>
<term>Maladie de stockage des esters de cholestérol</term>
<term>Peau</term>
<term>Phospholipides</term>
<term>Protéines recombinantes</term>
<term>Transporteurs ABC</term>
</keywords>
<keywords scheme="MESH" qualifier="pharmacologie" xml:lang="fr"><term>Milieux de culture conditionnés</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Humans</term>
<term>Mutation</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Humains</term>
<term>Mutation</term>
<term>Stérols</term>
<term>Transporteur-1 à cassette liant l'ATP</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">ATP-binding cassette transporter A1 (ABCA1) mediates the rate-limiting step in high density lipoprotein (HDL) particle formation, and its expression is regulated primarily by oxysterol-dependent activation of liver X receptors. We previously reported that ABCA1 expression and HDL formation are impaired in the lysosomal cholesterol storage disorder Niemann-Pick disease type C1 and that plasma HDL-C is low in the majority of Niemann-Pick disease type C patients. Here, we show that ABCA1 regulation and activity are also impaired in cholesteryl ester storage disease (CESD), caused by mutations in the LIPA gene that result in less than 5% of normal lysosomal acid lipase (LAL) activity. Fibroblasts from patients with CESD showed impaired up-regulation of ABCA1 in response to low density lipoprotein (LDL) loading, reduced phospholipid and cholesterol efflux to apolipoprotein A-I, and reduced α-HDL particle formation. Treatment of normal fibroblasts with chloroquine to inhibit LAL activity reduced ABCA1 expression and activity, similar to that of CESD cells. Liver X receptor agonist treatment of CESD cells corrected ABCA1 expression but failed to correct LDL cholesteryl ester hydrolysis and cholesterol efflux to apoA-I. LDL-induced production of 27-hydroxycholesterol was reduced in CESD compared with normal fibroblasts. Treatment with conditioned medium containing LAL from normal fibroblasts or with recombinant human LAL rescued ABCA1 expression, apoA-I-mediated cholesterol efflux, HDL particle formation, and production of 27-hydroxycholesterol by CESD cells. These results provide further evidence that the rate of release of cholesterol from late endosomes/lysosomes is a critical regulator of ABCA1 expression and activity, and an explanation for the hypoalphalipoproteinemia seen in CESD patients.</div>
</front>
</TEI>
<pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">21757691</PMID>
<DateCompleted><Year>2011</Year>
<Month>10</Month>
<Day>25</Day>
</DateCompleted>
<DateRevised><Year>2018</Year>
<Month>11</Month>
<Day>13</Day>
</DateRevised>
<Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1083-351X</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>286</Volume>
<Issue>35</Issue>
<PubDate><Year>2011</Year>
<Month>Sep</Month>
<Day>02</Day>
</PubDate>
</JournalIssue>
<Title>The Journal of biological chemistry</Title>
<ISOAbbreviation>J. Biol. Chem.</ISOAbbreviation>
</Journal>
<ArticleTitle>Lysosomal acid lipase deficiency impairs regulation of ABCA1 gene and formation of high density lipoproteins in cholesteryl ester storage disease.</ArticleTitle>
<Pagination><MedlinePgn>30624-35</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1074/jbc.M111.274381</ELocationID>
<Abstract><AbstractText>ATP-binding cassette transporter A1 (ABCA1) mediates the rate-limiting step in high density lipoprotein (HDL) particle formation, and its expression is regulated primarily by oxysterol-dependent activation of liver X receptors. We previously reported that ABCA1 expression and HDL formation are impaired in the lysosomal cholesterol storage disorder Niemann-Pick disease type C1 and that plasma HDL-C is low in the majority of Niemann-Pick disease type C patients. Here, we show that ABCA1 regulation and activity are also impaired in cholesteryl ester storage disease (CESD), caused by mutations in the LIPA gene that result in less than 5% of normal lysosomal acid lipase (LAL) activity. Fibroblasts from patients with CESD showed impaired up-regulation of ABCA1 in response to low density lipoprotein (LDL) loading, reduced phospholipid and cholesterol efflux to apolipoprotein A-I, and reduced α-HDL particle formation. Treatment of normal fibroblasts with chloroquine to inhibit LAL activity reduced ABCA1 expression and activity, similar to that of CESD cells. Liver X receptor agonist treatment of CESD cells corrected ABCA1 expression but failed to correct LDL cholesteryl ester hydrolysis and cholesterol efflux to apoA-I. LDL-induced production of 27-hydroxycholesterol was reduced in CESD compared with normal fibroblasts. Treatment with conditioned medium containing LAL from normal fibroblasts or with recombinant human LAL rescued ABCA1 expression, apoA-I-mediated cholesterol efflux, HDL particle formation, and production of 27-hydroxycholesterol by CESD cells. These results provide further evidence that the rate of release of cholesterol from late endosomes/lysosomes is a critical regulator of ABCA1 expression and activity, and an explanation for the hypoalphalipoproteinemia seen in CESD patients.</AbstractText>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Bowden</LastName>
<ForeName>Kristin L</ForeName>
<Initials>KL</Initials>
<AffiliationInfo><Affiliation>Department of Medicine, Institute for Heart and Lung Health, St. Paul's Hospital, Vancouver, British Columbia V6Z 1Y6, Canada.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Bilbey</LastName>
<ForeName>Nicolas J</ForeName>
<Initials>NJ</Initials>
</Author>
<Author ValidYN="Y"><LastName>Bilawchuk</LastName>
<ForeName>Leanne M</ForeName>
<Initials>LM</Initials>
</Author>
<Author ValidYN="Y"><LastName>Boadu</LastName>
<ForeName>Emmanuel</ForeName>
<Initials>E</Initials>
</Author>
<Author ValidYN="Y"><LastName>Sidhu</LastName>
<ForeName>Rohini</ForeName>
<Initials>R</Initials>
</Author>
<Author ValidYN="Y"><LastName>Ory</LastName>
<ForeName>Daniel S</ForeName>
<Initials>DS</Initials>
</Author>
<Author ValidYN="Y"><LastName>Du</LastName>
<ForeName>Hong</ForeName>
<Initials>H</Initials>
</Author>
<Author ValidYN="Y"><LastName>Chan</LastName>
<ForeName>Teddy</ForeName>
<Initials>T</Initials>
</Author>
<Author ValidYN="Y"><LastName>Francis</LastName>
<ForeName>Gordon A</ForeName>
<Initials>GA</Initials>
</Author>
</AuthorList>
<Language>eng</Language>
<GrantList CompleteYN="Y"><Grant><GrantID>HL067773</GrantID>
<Acronym>HL</Acronym>
<Agency>NHLBI NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>HL087001</GrantID>
<Acronym>HL</Acronym>
<Agency>NHLBI NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>R01 HL087001</GrantID>
<Acronym>HL</Acronym>
<Agency>NHLBI NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>R01 HL067773</GrantID>
<Acronym>HL</Acronym>
<Agency>NHLBI NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>MOP-79532</GrantID>
<Agency>Canadian Institutes of Health Research</Agency>
<Country>Canada</Country>
</Grant>
</GrantList>
<PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType>
<PublicationType UI="D052061">Research Support, N.I.H., Extramural</PublicationType>
<PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType>
</PublicationTypeList>
<ArticleDate DateType="Electronic"><Year>2011</Year>
<Month>07</Month>
<Day>10</Day>
</ArticleDate>
</Article>
<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>J Biol Chem</MedlineTA>
<NlmUniqueID>2985121R</NlmUniqueID>
<ISSNLinking>0021-9258</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList><Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="C577836">ABCA1 protein, human</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D064286">ATP Binding Cassette Transporter 1</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D018528">ATP-Binding Cassette Transporters</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D017077">Culture Media, Conditioned</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D008074">Lipoproteins</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D008075">Lipoproteins, HDL</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D010743">Phospholipids</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D011994">Recombinant Proteins</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D013261">Sterols</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>886U3H6UFF</RegistryNumber>
<NameOfSubstance UI="D002738">Chloroquine</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>97C5T2UQ7J</RegistryNumber>
<NameOfSubstance UI="D002784">Cholesterol</NameOfSubstance>
</Chemical>
</ChemicalList>
<SupplMeshList><SupplMeshName Type="Disease" UI="C531854">Lysosomal acid lipase deficiency</SupplMeshName>
</SupplMeshList>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList><MeshHeading><DescriptorName UI="D064286" MajorTopicYN="N">ATP Binding Cassette Transporter 1</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D018528" MajorTopicYN="N">ATP-Binding Cassette Transporters</DescriptorName>
<QualifierName UI="Q000378" MajorTopicYN="Y">metabolism</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D002738" MajorTopicYN="N">Chloroquine</DescriptorName>
<QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D002784" MajorTopicYN="N">Cholesterol</DescriptorName>
<QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D015217" MajorTopicYN="N">Cholesterol Ester Storage Disease</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
<QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D017077" MajorTopicYN="N">Culture Media, Conditioned</DescriptorName>
<QualifierName UI="Q000494" MajorTopicYN="N">pharmacology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D005347" MajorTopicYN="N">Fibroblasts</DescriptorName>
<QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D008074" MajorTopicYN="N">Lipoproteins</DescriptorName>
<QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D008075" MajorTopicYN="N">Lipoproteins, HDL</DescriptorName>
<QualifierName UI="Q000378" MajorTopicYN="Y">metabolism</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D009154" MajorTopicYN="N">Mutation</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D010743" MajorTopicYN="N">Phospholipids</DescriptorName>
<QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D011994" MajorTopicYN="N">Recombinant Proteins</DescriptorName>
<QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D012867" MajorTopicYN="N">Skin</DescriptorName>
<QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D013261" MajorTopicYN="N">Sterols</DescriptorName>
<QualifierName UI="Q000737" MajorTopicYN="N">chemistry</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D015223" MajorTopicYN="N">Wolman Disease</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
<QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName>
</MeshHeading>
</MeshHeadingList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2011</Year>
<Month>7</Month>
<Day>16</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="pubmed"><Year>2011</Year>
<Month>7</Month>
<Day>16</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="medline"><Year>2011</Year>
<Month>10</Month>
<Day>26</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
</History>
<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="pubmed">21757691</ArticleId>
<ArticleId IdType="pii">M111.274381</ArticleId>
<ArticleId IdType="doi">10.1074/jbc.M111.274381</ArticleId>
<ArticleId IdType="pmc">PMC3162423</ArticleId>
</ArticleIdList>
<ReferenceList><Reference><Citation>Mol Genet Metab. 1999 Nov;68(3):333-45</Citation>
<ArticleIdList><ArticleId IdType="pubmed">10562460</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Can J Biochem Physiol. 1959 Aug;37(8):911-7</Citation>
<ArticleIdList><ArticleId IdType="pubmed">13671378</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Proc Natl Acad Sci U S A. 2000 Oct 24;97(22):12097-102</Citation>
<ArticleIdList><ArticleId IdType="pubmed">11035776</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>J Lipid Res. 2001 Apr;42(4):489-500</Citation>
<ArticleIdList><ArticleId IdType="pubmed">11290820</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>J Biol Chem. 2001 Oct 19;276(42):39438-47</Citation>
<ArticleIdList><ArticleId IdType="pubmed">11500512</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>J Biol Chem. 2001 Oct 19;276(42):38378-87</Citation>
<ArticleIdList><ArticleId IdType="pubmed">11504730</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>J Biol Chem. 2001 Nov 23;276(47):43509-15</Citation>
<ArticleIdList><ArticleId IdType="pubmed">11546778</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>J Biol Chem. 2001 Nov 23;276(47):43564-9</Citation>
<ArticleIdList><ArticleId IdType="pubmed">11559713</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Endocrinology. 2002 Jul;143(7):2548-58</Citation>
<ArticleIdList><ArticleId IdType="pubmed">12072387</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>J Biol Chem. 2003 Jul 11;278(28):25517-25</Citation>
<ArticleIdList><ArticleId IdType="pubmed">12719428</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>J Biol Chem. 2003 Aug 29;278(35):32569-77</Citation>
<ArticleIdList><ArticleId IdType="pubmed">12813037</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>J Lipid Res. 2004 Jun;45(6):1122-31</Citation>
<ArticleIdList><ArticleId IdType="pubmed">14993246</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Proc Natl Acad Sci U S A. 2004 Jun 29;101(26):9774-9</Citation>
<ArticleIdList><ArticleId IdType="pubmed">15210959</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>J Biol Chem. 1974 Feb 10;249(3):789-96</Citation>
<ArticleIdList><ArticleId IdType="pubmed">4359767</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Proc Natl Acad Sci U S A. 1975 Aug;72(8):2925-9</Citation>
<ArticleIdList><ArticleId IdType="pubmed">241998</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>J Biol Chem. 1975 Nov 10;250(21):8487-95</Citation>
<ArticleIdList><ArticleId IdType="pubmed">172501</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>J Biol Chem. 1976 Jun 10;251(11):3277-86</Citation>
<ArticleIdList><ArticleId IdType="pubmed">179993</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>J Lipid Res. 1980 Mar;21(3):284-91</Citation>
<ArticleIdList><ArticleId IdType="pubmed">7381323</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>J Cell Biol. 1980 Jun;85(3):839-52</Citation>
<ArticleIdList><ArticleId IdType="pubmed">7190150</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>J Lipid Res. 1982 Jan;23(1):114-23</Citation>
<ArticleIdList><ArticleId IdType="pubmed">7057100</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>J Biol Chem. 1985 Dec 5;260(28):15186-93</Citation>
<ArticleIdList><ArticleId IdType="pubmed">4066668</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Proc Natl Acad Sci U S A. 1985 Dec;82(23):8247-51</Citation>
<ArticleIdList><ArticleId IdType="pubmed">3865225</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>J Biol Chem. 1986 Dec 15;261(35):16769-74</Citation>
<ArticleIdList><ArticleId IdType="pubmed">3782141</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>J Biol Chem. 1986 Dec 15;261(35):16775-80</Citation>
<ArticleIdList><ArticleId IdType="pubmed">3782142</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>FASEB J. 1987 Jul;1(1):40-5</Citation>
<ArticleIdList><ArticleId IdType="pubmed">3609608</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>J Clin Invest. 1987 Dec;80(6):1692-7</Citation>
<ArticleIdList><ArticleId IdType="pubmed">3680522</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Biochem J. 1993 Sep 15;294 ( Pt 3):771-8</Citation>
<ArticleIdList><ArticleId IdType="pubmed">8379932</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>J Biol Chem. 1995 Jun 23;270(25):15102-10</Citation>
<ArticleIdList><ArticleId IdType="pubmed">7797494</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>J Biol Chem. 1995 Nov 17;270(46):27766-72</Citation>
<ArticleIdList><ArticleId IdType="pubmed">7499245</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Biochemistry. 1996 Dec 3;35(48):15188-97</Citation>
<ArticleIdList><ArticleId IdType="pubmed">8952466</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Mol Genet Metab. 1998 Jun;64(2):126-34</Citation>
<ArticleIdList><ArticleId IdType="pubmed">9705237</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Proc Natl Acad Sci U S A. 1999 Oct 12;96(21):11992-7</Citation>
<ArticleIdList><ArticleId IdType="pubmed">10518564</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>J Biol Chem. 1951 Nov;193(1):265-75</Citation>
<ArticleIdList><ArticleId IdType="pubmed">14907713</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>J Biol Chem. 1957 May;226(1):497-509</Citation>
<ArticleIdList><ArticleId IdType="pubmed">13428781</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>J Clin Invest. 2005 May;115(5):1333-42</Citation>
<ArticleIdList><ArticleId IdType="pubmed">15841208</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Methods. 2005 Jun;36(2):196-206</Citation>
<ArticleIdList><ArticleId IdType="pubmed">15905101</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>J Biol Chem. 2005 Aug 12;280(32):29277-81</Citation>
<ArticleIdList><ArticleId IdType="pubmed">15951431</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Physiol Rev. 2005 Oct;85(4):1343-72</Citation>
<ArticleIdList><ArticleId IdType="pubmed">16183915</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>J Lipid Res. 2006 Jun;47(6):1250-60</Citation>
<ArticleIdList><ArticleId IdType="pubmed">16567856</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Proc Natl Acad Sci U S A. 2006 Sep 12;103(37):13807-12</Citation>
<ArticleIdList><ArticleId IdType="pubmed">16940355</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Circ Res. 2006 Sep 29;99(7):672-4</Citation>
<ArticleIdList><ArticleId IdType="pubmed">16946132</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>J Biol Chem. 2006 Dec 1;281(48):37081-90</Citation>
<ArticleIdList><ArticleId IdType="pubmed">17020879</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Lipids Health Dis. 2007;6:10</Citation>
<ArticleIdList><ArticleId IdType="pubmed">17408498</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>J Biol Chem. 2007 Aug 3;282(31):22525-33</Citation>
<ArticleIdList><ArticleId IdType="pubmed">17553802</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Arterioscler Thromb Vasc Biol. 2008 Mar;28(3):448-54</Citation>
<ArticleIdList><ArticleId IdType="pubmed">18187667</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Science. 2009 Jul 3;325(5936):100-4</Citation>
<ArticleIdList><ArticleId IdType="pubmed">19520913</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>J Lipid Res. 2010 Feb;51(2):406-15</Citation>
<ArticleIdList><ArticleId IdType="pubmed">19744920</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Biochim Biophys Acta. 2010 Dec;1801(12):1286-93</Citation>
<ArticleIdList><ArticleId IdType="pubmed">20736082</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>J Biol Chem. 2000 Sep 8;275(36):28240-5</Citation>
<ArticleIdList><ArticleId IdType="pubmed">10858438</ArticleId>
</ArticleIdList>
</Reference>
</ReferenceList>
</PubmedData>
</pubmed>
<affiliations><list><country><li>Canada</li>
</country>
</list>
<tree><noCountry><name sortKey="Bilawchuk, Leanne M" sort="Bilawchuk, Leanne M" uniqKey="Bilawchuk L" first="Leanne M" last="Bilawchuk">Leanne M. Bilawchuk</name>
<name sortKey="Bilbey, Nicolas J" sort="Bilbey, Nicolas J" uniqKey="Bilbey N" first="Nicolas J" last="Bilbey">Nicolas J. Bilbey</name>
<name sortKey="Boadu, Emmanuel" sort="Boadu, Emmanuel" uniqKey="Boadu E" first="Emmanuel" last="Boadu">Emmanuel Boadu</name>
<name sortKey="Chan, Teddy" sort="Chan, Teddy" uniqKey="Chan T" first="Teddy" last="Chan">Teddy Chan</name>
<name sortKey="Du, Hong" sort="Du, Hong" uniqKey="Du H" first="Hong" last="Du">Hong Du</name>
<name sortKey="Francis, Gordon A" sort="Francis, Gordon A" uniqKey="Francis G" first="Gordon A" last="Francis">Gordon A. Francis</name>
<name sortKey="Ory, Daniel S" sort="Ory, Daniel S" uniqKey="Ory D" first="Daniel S" last="Ory">Daniel S. Ory</name>
<name sortKey="Sidhu, Rohini" sort="Sidhu, Rohini" uniqKey="Sidhu R" first="Rohini" last="Sidhu">Rohini Sidhu</name>
</noCountry>
<country name="Canada"><noRegion><name sortKey="Bowden, Kristin L" sort="Bowden, Kristin L" uniqKey="Bowden K" first="Kristin L" last="Bowden">Kristin L. Bowden</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Sante/explor/ChloroquineV1/Data/Ncbi/Merge
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000157 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Merge/biblio.hfd -nk 000157 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Sante |area= ChloroquineV1 |flux= Ncbi |étape= Merge |type= RBID |clé= pubmed:21757691 |texte= Lysosomal acid lipase deficiency impairs regulation of ABCA1 gene and formation of high density lipoproteins in cholesteryl ester storage disease. }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Merge/RBID.i -Sk "pubmed:21757691" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Merge/biblio.hfd \ | NlmPubMed2Wicri -a ChloroquineV1
![]() | This area was generated with Dilib version V0.6.33. | ![]() |