Cutis laxa: intersection of elastic fiber biogenesis, TGFβ signaling, the secretory pathway and metabolism.
Identifieur interne : 003583 ( Main/Exploration ); précédent : 003582; suivant : 003584Cutis laxa: intersection of elastic fiber biogenesis, TGFβ signaling, the secretory pathway and metabolism.
Auteurs : Zsolt Urban [États-Unis] ; Elaine C. Davis [Canada]Source :
- Matrix biology : journal of the International Society for Matrix Biology [ 1569-1802 ] ; 2014.
Descripteurs français
- KwdFr :
- Cutis laxa (métabolisme), Espèces réactives de l'oxygène (métabolisme), Facteur de croissance transformant bêta (physiologie), Humains, Lysyloxidase, Tissu élastique (métabolisme), Tissu élastique (sécrétion), Transduction du signal, Transport de protéines, Voie de sécrétion, Vésicules de transport (métabolisme).
- MESH :
- métabolisme : Cutis laxa, Espèces réactives de l'oxygène, Tissu élastique, Vésicules de transport.
- physiologie : Facteur de croissance transformant bêta.
- sécrétion : Tissu élastique.
- Humains, Lysyloxidase, Transduction du signal, Transport de protéines, Voie de sécrétion.
English descriptors
- KwdEn :
- MESH :
- chemical , metabolism : Reactive Oxygen Species.
- chemical , physiology : Transforming Growth Factor beta.
- chemical : Protein-Lysine 6-Oxidase.
- metabolism : Cutis Laxa, Elastic Tissue, Transport Vesicles.
- secretion : Elastic Tissue.
- Humans, Protein Transport, Secretory Pathway, Signal Transduction.
Abstract
Cutis laxa (CL), a disease characterized by redundant and inelastic skin, displays extensive locus heterogeneity. Together with geroderma osteodysplasticum and arterial tortuosity syndrome, which show phenotypic overlap with CL, eleven CL-related genes have been identified to date, which encode proteins within 3 groups. Elastin, fibulin-4, fibulin-5 and latent transforming growth factor-β-binding protein 4 are secreted proteins which form elastic fibers and are involved in the sequestration and subsequent activation of transforming growth factor-β (TGFβ). Proteins within the second group, localized to the secretory pathway, perform transport and membrane trafficking functions necessary for the modification and secretion of elastic fiber components. Key proteins include a subunit of the vacuolar-type proton pump, which ensures the efficient secretion of tropoelastin, the precursor or elastin. A copper transporter is required for the activity of lysyl oxidases, which crosslink collagen and elastin. A Rab6-interacting goglin recruits kinesin motors to Golgi-vesicles facilitating the transport from the Golgi to the plasma membrane. The Rab and Ras interactor 2 regulates the activity of Rab5, a small guanosine triphosphatase essential for the endocytosis of various cell surface receptors, including integrins. Proteins of the third group related to CL perform metabolic functions within the mitochondria, inhibiting the accumulation of reactive oxygen species. Two of these proteins catalyze subsequent steps in the conversion of glutamate to proline. The third transports dehydroascorbate into mitochondria. Recent studies on CL-related proteins highlight the intricate connections among membrane trafficking, metabolism, extracellular matrix assembly, and TGFβ signaling.
DOI: 10.1016/j.matbio.2013.07.006
PubMed: 23954411
Affiliations:
- Canada, États-Unis
- Pennsylvanie, Québec
- Montréal, Pittsburgh
- Université McGill, Université de Pittsburgh
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Le document en format XML
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Electronic address: urbanz@pitt.edu.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261</wicri:regionArea><placeName><region type="state">Pennsylvanie</region><settlement type="city">Pittsburgh</settlement></placeName><orgName type="university">Université de Pittsburgh</orgName></affiliation></author><author><name sortKey="Davis, Elaine C" sort="Davis, Elaine C" uniqKey="Davis E" first="Elaine C" last="Davis">Elaine C. Davis</name><affiliation wicri:level="4"><nlm:affiliation>Department of Anatomy and Cell Biology, McGill University, Montreal, Quebec, H3A 0C7 Canada.</nlm:affiliation><orgName type="university">Université McGill</orgName><country>Canada</country><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author></analytic><series><title level="j">Matrix biology : journal of the International Society for Matrix Biology</title><idno type="eISSN">1569-1802</idno><imprint><date when="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Cutis Laxa (metabolism)</term><term>Elastic Tissue (metabolism)</term><term>Elastic Tissue (secretion)</term><term>Humans</term><term>Protein Transport</term><term>Protein-Lysine 6-Oxidase</term><term>Reactive Oxygen Species (metabolism)</term><term>Secretory Pathway</term><term>Signal Transduction</term><term>Transforming Growth Factor beta (physiology)</term><term>Transport Vesicles (metabolism)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Cutis laxa (métabolisme)</term><term>Espèces réactives de l'oxygène (métabolisme)</term><term>Facteur de croissance transformant bêta (physiologie)</term><term>Humains</term><term>Lysyloxidase</term><term>Tissu élastique (métabolisme)</term><term>Tissu élastique (sécrétion)</term><term>Transduction du signal</term><term>Transport de protéines</term><term>Voie de sécrétion</term><term>Vésicules de transport (métabolisme)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Reactive Oxygen Species</term></keywords><keywords scheme="MESH" type="chemical" qualifier="physiology" xml:lang="en"><term>Transforming Growth Factor beta</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>Protein-Lysine 6-Oxidase</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Cutis Laxa</term><term>Elastic Tissue</term><term>Transport Vesicles</term></keywords><keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Cutis laxa</term><term>Espèces réactives de l'oxygène</term><term>Tissu élastique</term><term>Vésicules de transport</term></keywords><keywords scheme="MESH" qualifier="physiologie" xml:lang="fr"><term>Facteur de croissance transformant bêta</term></keywords><keywords scheme="MESH" qualifier="secretion" xml:lang="en"><term>Elastic Tissue</term></keywords><keywords scheme="MESH" qualifier="sécrétion" xml:lang="fr"><term>Tissu élastique</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Humans</term><term>Protein Transport</term><term>Secretory Pathway</term><term>Signal Transduction</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Humains</term><term>Lysyloxidase</term><term>Transduction du signal</term><term>Transport de protéines</term><term>Voie de sécrétion</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Cutis laxa (CL), a disease characterized by redundant and inelastic skin, displays extensive locus heterogeneity. Together with geroderma osteodysplasticum and arterial tortuosity syndrome, which show phenotypic overlap with CL, eleven CL-related genes have been identified to date, which encode proteins within 3 groups. Elastin, fibulin-4, fibulin-5 and latent transforming growth factor-β-binding protein 4 are secreted proteins which form elastic fibers and are involved in the sequestration and subsequent activation of transforming growth factor-β (TGFβ). Proteins within the second group, localized to the secretory pathway, perform transport and membrane trafficking functions necessary for the modification and secretion of elastic fiber components. Key proteins include a subunit of the vacuolar-type proton pump, which ensures the efficient secretion of tropoelastin, the precursor or elastin. A copper transporter is required for the activity of lysyl oxidases, which crosslink collagen and elastin. A Rab6-interacting goglin recruits kinesin motors to Golgi-vesicles facilitating the transport from the Golgi to the plasma membrane. The Rab and Ras interactor 2 regulates the activity of Rab5, a small guanosine triphosphatase essential for the endocytosis of various cell surface receptors, including integrins. Proteins of the third group related to CL perform metabolic functions within the mitochondria, inhibiting the accumulation of reactive oxygen species. Two of these proteins catalyze subsequent steps in the conversion of glutamate to proline. The third transports dehydroascorbate into mitochondria. Recent studies on CL-related proteins highlight the intricate connections among membrane trafficking, metabolism, extracellular matrix assembly, and TGFβ signaling.</div></front></TEI><affiliations><list><country><li>Canada</li><li>États-Unis</li></country><region><li>Pennsylvanie</li><li>Québec</li></region><settlement><li>Montréal</li><li>Pittsburgh</li></settlement><orgName><li>Université McGill</li><li>Université de Pittsburgh</li></orgName></list><tree><country name="États-Unis"><region name="Pennsylvanie"><name sortKey="Urban, Zsolt" sort="Urban, Zsolt" uniqKey="Urban Z" first="Zsolt" last="Urban">Zsolt Urban</name></region></country><country name="Canada"><region name="Québec"><name sortKey="Davis, Elaine C" sort="Davis, Elaine C" uniqKey="Davis E" first="Elaine C" last="Davis">Elaine C. Davis</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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