Cutis laxa: intersection of elastic fiber biogenesis, TGFβ signaling, the secretory pathway and metabolism.
Identifieur interne : 000181 ( Canada/Analysis ); précédent : 000180; suivant : 000182Cutis 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
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 004534
- to stream PubMed, to step Curation: 004482
- to stream PubMed, to step Checkpoint: 004482
- to stream Ncbi, to step Merge: 000226
- to stream Ncbi, to step Curation: 000226
- to stream Ncbi, to step Checkpoint: 000226
- to stream Main, to step Merge: 003750
- to stream Main, to step Curation: 003583
- to stream Main, to step Exploration: 003583
- to stream Canada, to step Extraction: 000181
Links to Exploration step
pubmed:23954411Le document en format XML
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<term>Protein Transport</term>
<term>Protein-Lysine 6-Oxidase</term>
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<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>
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