The Experts below are selected from a list of 84 Experts worldwide ranked by ideXlab platform
Thomas J. Jentsch - One of the best experts on this subject based on the ideXlab platform.
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ClC-5, the chloride channel mutated in Dent’s disease, colocalizes with the proton pump in endocytotically active kidney cells
Proceedings of the National Academy of Sciences of the United States of America, 1998Co-Authors: Willy Günther, Anke Lüchow, Françoise Cluzeaud, Alain Vandewalle, Thomas J. JentschAbstract:Loss-of-function mutations of the ClC-5 chloride channel lead to Dent’s disease, a syndrome characterized by low molecular weight proteinuria, hypercalciuria, and kidney stones. We show that ClC-5 is expressed in renal proximal tubule cells, which normally endocytose proteins passing the glomerular Filter. Expression is highest below the brush border in a region densely packed with endocytotic vesicles, where ClC-5 colocalizes with the H+-ATPase and with internalized proteins early after uptake. In intercalated cells of the collecting duct it again localizes to apical intracellular vesicles and colocalizes with the proton pump in α-intercalated cells. In transfected cells, ClC-5 colocalizes with endocytosed α2-macroglobulin. Cotransfection with a GTPase-deficient rab5 mutant leads to enlarged early endosomes that stain for ClC-5. We suggest that ClC-5 may be essential for proximal tubular endocytosis by providing an electrical shunt necessary for the efficient acidification of vesicles in the endocytotic pathway, explaining the proteinuria observed in Dent’s disease.
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clc 5 the chloride channel mutated in dent s disease colocalizes with the proton pump in endocytotically active kidney cells
Proceedings of the National Academy of Sciences of the United States of America, 1998Co-Authors: Willy Günther, Anke Lüchow, Françoise Cluzeaud, Alain Vandewalle, Thomas J. JentschAbstract:Loss-of-function mutations of the ClC-5 chloride channel lead to Dent’s disease, a syndrome characterized by low molecular weight proteinuria, hypercalciuria, and kidney stones. We show that ClC-5 is expressed in renal proximal tubule cells, which normally endocytose proteins passing the glomerular Filter. Expression is highest below the brush border in a region densely packed with endocytotic vesicles, where ClC-5 colocalizes with the H+-ATPase and with internalized proteins early after uptake. In intercalated cells of the collecting duct it again localizes to apical intracellular vesicles and colocalizes with the proton pump in α-intercalated cells. In transfected cells, ClC-5 colocalizes with endocytosed α2-macroglobulin. Cotransfection with a GTPase-deficient rab5 mutant leads to enlarged early endosomes that stain for ClC-5. We suggest that ClC-5 may be essential for proximal tubular endocytosis by providing an electrical shunt necessary for the efficient acidification of vesicles in the endocytotic pathway, explaining the proteinuria observed in Dent’s disease.
Willy Günther - One of the best experts on this subject based on the ideXlab platform.
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ClC-5, the chloride channel mutated in Dent’s disease, colocalizes with the proton pump in endocytotically active kidney cells
Proceedings of the National Academy of Sciences of the United States of America, 1998Co-Authors: Willy Günther, Anke Lüchow, Françoise Cluzeaud, Alain Vandewalle, Thomas J. JentschAbstract:Loss-of-function mutations of the ClC-5 chloride channel lead to Dent’s disease, a syndrome characterized by low molecular weight proteinuria, hypercalciuria, and kidney stones. We show that ClC-5 is expressed in renal proximal tubule cells, which normally endocytose proteins passing the glomerular Filter. Expression is highest below the brush border in a region densely packed with endocytotic vesicles, where ClC-5 colocalizes with the H+-ATPase and with internalized proteins early after uptake. In intercalated cells of the collecting duct it again localizes to apical intracellular vesicles and colocalizes with the proton pump in α-intercalated cells. In transfected cells, ClC-5 colocalizes with endocytosed α2-macroglobulin. Cotransfection with a GTPase-deficient rab5 mutant leads to enlarged early endosomes that stain for ClC-5. We suggest that ClC-5 may be essential for proximal tubular endocytosis by providing an electrical shunt necessary for the efficient acidification of vesicles in the endocytotic pathway, explaining the proteinuria observed in Dent’s disease.
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clc 5 the chloride channel mutated in dent s disease colocalizes with the proton pump in endocytotically active kidney cells
Proceedings of the National Academy of Sciences of the United States of America, 1998Co-Authors: Willy Günther, Anke Lüchow, Françoise Cluzeaud, Alain Vandewalle, Thomas J. JentschAbstract:Loss-of-function mutations of the ClC-5 chloride channel lead to Dent’s disease, a syndrome characterized by low molecular weight proteinuria, hypercalciuria, and kidney stones. We show that ClC-5 is expressed in renal proximal tubule cells, which normally endocytose proteins passing the glomerular Filter. Expression is highest below the brush border in a region densely packed with endocytotic vesicles, where ClC-5 colocalizes with the H+-ATPase and with internalized proteins early after uptake. In intercalated cells of the collecting duct it again localizes to apical intracellular vesicles and colocalizes with the proton pump in α-intercalated cells. In transfected cells, ClC-5 colocalizes with endocytosed α2-macroglobulin. Cotransfection with a GTPase-deficient rab5 mutant leads to enlarged early endosomes that stain for ClC-5. We suggest that ClC-5 may be essential for proximal tubular endocytosis by providing an electrical shunt necessary for the efficient acidification of vesicles in the endocytotic pathway, explaining the proteinuria observed in Dent’s disease.
Fabien Gandon - One of the best experts on this subject based on the ideXlab platform.
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LDScript: a Linked Data Script Language
2017Co-Authors: Olivier Corby, Catherine Faron Zucker, Fabien GandonAbstract:In addition to the existing standards dedicated to representation or querying, Semantic Web programmers could really benefit from a dedicated programming language enabling them to directly define functions on RDF terms, RDF graphs or SPARQL results. This is especially the case, for instance, when defining SPARQL extension functions. The ability to capitalize complex SPARQL Filter Expressions into extension functions or to define and reuse dedicated aggregates are real cases where a dedicated language can support modularity and maintenance of the code. Other families of use cases include the definition of functional properties associated to RDF resources or the definition of procedural attachments as functions assigned to RDFS or OWL classes with the selection of the function to be applied to a resource depending on the type of the resource. To address these needs we define LDScript, a Linked Data script language on top of the SPARQL Filter Expression language. We provide the formal grammar of the syntax and the Natural Semantics inference rules of the semantics of the language. We also provide a benchmark and perform an evaluation using real test bases from W3C with different implementations and approaches comparing, in particular, script interpretation and Java compilation.
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International Semantic Web Conference (1) - LDScript: A Linked Data Script Language
Lecture Notes in Computer Science, 2017Co-Authors: Olivier Corby, Catherine Faron Zucker, Fabien GandonAbstract:In addition to the existing standards dedicated to representation or querying, Semantic Web programmers could really benefit from a dedicated programming language enabling them to directly define functions on RDF terms, RDF graphs or SPARQL results. This is especially the case, for instance, when defining SPARQL extension functions. The ability to capitalize complex SPARQL Filter Expressions into extension functions or to define and reuse dedicated aggregates are real cases where a dedicated language can support modularity and maintenance of the code. Other families of use cases include the definition of functional properties associated to RDF resources or the definition of procedural attachments as functions assigned to RDFS or OWL classes with the selection of the function to be applied to a resource depending on the type of the resource. To address these needs we define LDScript, a Linked Data script language on top of the SPARQL Filter Expression language. We provide the formal grammar of the syntax and the Natural Semantics inference rules of the semantics of the language. We also provide a benchmark and perform an evaluation using real test bases from W3C with different implementations and approaches comparing, in particular, script interpretation and Java compilation.
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LDScript: a Linked Data Script Language
2016Co-Authors: Olivier Corby, Catherine Faron Zucker, Fabien GandonAbstract:In addition to the existing standards, Web of Data programmers would take advantage of a dedicated programming language enabling them to define functions on RDF terms, triples and graphs as well as SPARQL query results. In particular, this is the case when defining SPARQL extension functions, and the ability to capitalize complex SPARQL Filter Expressions into extension functions or to define and reuse dedicated aggregates would support modularity and maintenance of the code. Another use case is the definition of functional properties associated to RDF resources and the definition of procedural attachments as functions assigned to RDFS or OWL classes with the selection of the function to be applied to a resource depending on the type of the resource. To address these needs we define a Linked Data Script language on top of the SPARQL Filter Expression language. We provide the syntax and the semantics of the LDScript language.
Anke Lüchow - One of the best experts on this subject based on the ideXlab platform.
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ClC-5, the chloride channel mutated in Dent’s disease, colocalizes with the proton pump in endocytotically active kidney cells
Proceedings of the National Academy of Sciences of the United States of America, 1998Co-Authors: Willy Günther, Anke Lüchow, Françoise Cluzeaud, Alain Vandewalle, Thomas J. JentschAbstract:Loss-of-function mutations of the ClC-5 chloride channel lead to Dent’s disease, a syndrome characterized by low molecular weight proteinuria, hypercalciuria, and kidney stones. We show that ClC-5 is expressed in renal proximal tubule cells, which normally endocytose proteins passing the glomerular Filter. Expression is highest below the brush border in a region densely packed with endocytotic vesicles, where ClC-5 colocalizes with the H+-ATPase and with internalized proteins early after uptake. In intercalated cells of the collecting duct it again localizes to apical intracellular vesicles and colocalizes with the proton pump in α-intercalated cells. In transfected cells, ClC-5 colocalizes with endocytosed α2-macroglobulin. Cotransfection with a GTPase-deficient rab5 mutant leads to enlarged early endosomes that stain for ClC-5. We suggest that ClC-5 may be essential for proximal tubular endocytosis by providing an electrical shunt necessary for the efficient acidification of vesicles in the endocytotic pathway, explaining the proteinuria observed in Dent’s disease.
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clc 5 the chloride channel mutated in dent s disease colocalizes with the proton pump in endocytotically active kidney cells
Proceedings of the National Academy of Sciences of the United States of America, 1998Co-Authors: Willy Günther, Anke Lüchow, Françoise Cluzeaud, Alain Vandewalle, Thomas J. JentschAbstract:Loss-of-function mutations of the ClC-5 chloride channel lead to Dent’s disease, a syndrome characterized by low molecular weight proteinuria, hypercalciuria, and kidney stones. We show that ClC-5 is expressed in renal proximal tubule cells, which normally endocytose proteins passing the glomerular Filter. Expression is highest below the brush border in a region densely packed with endocytotic vesicles, where ClC-5 colocalizes with the H+-ATPase and with internalized proteins early after uptake. In intercalated cells of the collecting duct it again localizes to apical intracellular vesicles and colocalizes with the proton pump in α-intercalated cells. In transfected cells, ClC-5 colocalizes with endocytosed α2-macroglobulin. Cotransfection with a GTPase-deficient rab5 mutant leads to enlarged early endosomes that stain for ClC-5. We suggest that ClC-5 may be essential for proximal tubular endocytosis by providing an electrical shunt necessary for the efficient acidification of vesicles in the endocytotic pathway, explaining the proteinuria observed in Dent’s disease.
Françoise Cluzeaud - One of the best experts on this subject based on the ideXlab platform.
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ClC-5, the chloride channel mutated in Dent’s disease, colocalizes with the proton pump in endocytotically active kidney cells
Proceedings of the National Academy of Sciences of the United States of America, 1998Co-Authors: Willy Günther, Anke Lüchow, Françoise Cluzeaud, Alain Vandewalle, Thomas J. JentschAbstract:Loss-of-function mutations of the ClC-5 chloride channel lead to Dent’s disease, a syndrome characterized by low molecular weight proteinuria, hypercalciuria, and kidney stones. We show that ClC-5 is expressed in renal proximal tubule cells, which normally endocytose proteins passing the glomerular Filter. Expression is highest below the brush border in a region densely packed with endocytotic vesicles, where ClC-5 colocalizes with the H+-ATPase and with internalized proteins early after uptake. In intercalated cells of the collecting duct it again localizes to apical intracellular vesicles and colocalizes with the proton pump in α-intercalated cells. In transfected cells, ClC-5 colocalizes with endocytosed α2-macroglobulin. Cotransfection with a GTPase-deficient rab5 mutant leads to enlarged early endosomes that stain for ClC-5. We suggest that ClC-5 may be essential for proximal tubular endocytosis by providing an electrical shunt necessary for the efficient acidification of vesicles in the endocytotic pathway, explaining the proteinuria observed in Dent’s disease.
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clc 5 the chloride channel mutated in dent s disease colocalizes with the proton pump in endocytotically active kidney cells
Proceedings of the National Academy of Sciences of the United States of America, 1998Co-Authors: Willy Günther, Anke Lüchow, Françoise Cluzeaud, Alain Vandewalle, Thomas J. JentschAbstract:Loss-of-function mutations of the ClC-5 chloride channel lead to Dent’s disease, a syndrome characterized by low molecular weight proteinuria, hypercalciuria, and kidney stones. We show that ClC-5 is expressed in renal proximal tubule cells, which normally endocytose proteins passing the glomerular Filter. Expression is highest below the brush border in a region densely packed with endocytotic vesicles, where ClC-5 colocalizes with the H+-ATPase and with internalized proteins early after uptake. In intercalated cells of the collecting duct it again localizes to apical intracellular vesicles and colocalizes with the proton pump in α-intercalated cells. In transfected cells, ClC-5 colocalizes with endocytosed α2-macroglobulin. Cotransfection with a GTPase-deficient rab5 mutant leads to enlarged early endosomes that stain for ClC-5. We suggest that ClC-5 may be essential for proximal tubular endocytosis by providing an electrical shunt necessary for the efficient acidification of vesicles in the endocytotic pathway, explaining the proteinuria observed in Dent’s disease.