{"id":{"repo_id":"aachen","oai_identifier":"oai:publications.rwth-aachen.de:62938"},"canonical_url":"https://search.dev.ndltd.org/etd/aachen/oai:publications.rwth-aachen.de:62938","repository":{"repo_id":"aachen","name":"RWTH Aachen University","base_url":"https://publications.rwth-aachen.de/oai2d"},"display":{"title":"Identifikation und Charakterisierung von Interaktionspartnern des Zystennierenproteins DZIP1L","abstract":"Polycystic kidney diseases are the most common genetic disorders; the underlying pathomechanisms are incompletely understood so far. One of the involved in the formation of cystic kidneys genes is DZIP1L. DZIP1L has previously been identified in our group as a new gene for polycystic kidney disease by homozygosity mapping of a family with autosomal recessive polycystic kidney disease. It encodes a homolog of the iguana protein in zebrafish, which is involved in the development of the pronephros and plays a role in the hedgehog signaling pathway. Term of this doctoral thesis was the identification of interaction partners of DZIP1L by a bacterial Two Hybrid system to further characterize the function and role of the protein in the cell. Coimmunoprecipitation experiments and immunfluorescence studies in transiently transfected COS7-, HEK293- and mIMCD-3- cells have been performed for validation of the interaction of DZIP1L with EEF1G, NAGK and PSAP. All three identified binding partners are involved in SMAD-/TGF-ß- signaling. NAGK and PSAP are known to directly interact with R-Smads, whereas for EEF1G an interaction with SnoN has been described. SnoN on his part interacts with an R-Smad too. Consequently, the transcription of TGF-ß target genes will be repressed. Overall, it can be postulated that DZIP1L does not only play a role in hedgehog-signaling but also influences cyst formation through modification of TGF-ß-signaling.","abstract_html":"Polycystic kidney diseases are the most common genetic disorders; the underlying pathomechanisms are incompletely understood so far. One of the involved in the formation of cystic kidneys genes is DZIP1L. DZIP1L has previously been identified in our group as a new gene for polycystic kidney disease by homozygosity mapping of a family with autosomal recessive polycystic kidney disease. It encodes a homolog of the iguana protein in zebrafish, which is involved in the development of the pronephros and plays a role in the hedgehog signaling pathway. Term of this doctoral thesis was the identification of interaction partners of DZIP1L by a bacterial Two Hybrid system to further characterize the function and role of the protein in the cell. Coimmunoprecipitation experiments and immunfluorescence studies in transiently transfected COS7-, HEK293- and mIMCD-3- cells have been performed for validation of the interaction of DZIP1L with EEF1G, NAGK and PSAP. All three identified binding partners are involved in SMAD-/TGF-ß- signaling. NAGK and PSAP are known to directly interact with R-Smads, whereas for EEF1G an interaction with SnoN has been described. SnoN on his part interacts with an R-Smad too. Consequently, the transcription of TGF-ß target genes will be repressed. Overall, it can be postulated that DZIP1L does not only play a role in hedgehog-signaling but also influences cyst formation through modification of TGF-ß-signaling.","abstract_has_math":false,"creators":["von Bothmer, Jennifer"],"institution":"Publikationsserver der RWTH Aachen University","degree_name":null,"degree_level":null,"degree_discipline":null,"degree_department":null,"school":null,"contributors":["Bohrmann, Johannes"],"advisors":[],"committee_chairs":[],"committee_members":[],"year":2012,"date_issued":"2012","date_published":"2012","updated_at":"2026-07-30T19:43:35Z","subjects":["info:eu-repo/classification/ddc/570","Nierenkrankheit","Zystenniere","Polyzystische Nierendegeneration","Erbkrankheit","Biowissenschaften, Biologie","Zystennierenerkrankung","Ziliopathie","DZIP1L","Bacterial-Two-Hybrid","ARPKD","Polyzystische Nierenerkrankung","Genetische Krankheit","TGF-ß-signaling","Hedgehog-signaling"],"languages":["ger"],"rights":["info:eu-repo/semantics/openAccess"],"rights_urls":[],"identifier_entries":[{"key":"dc:identifier","label":"Identifier","values":["https://publications.rwth-aachen.de/search?p=id:%22RWTH-CONV-124413%22"],"render_values":[{"text":"https://publications.rwth-aachen.de/search?p=id:%22RWTH-CONV-124413%22","href":"https://publications.rwth-aachen.de/search?p=id:%22RWTH-CONV-124413%22","code":true}]}]},"links":{"outbound_url":"https://publications.rwth-aachen.de/record/62938","outbound_label":"Repository record","outbound_source":"dc:identifier"},"metadata_groups":[{"id":"people","label":"People","entries":[{"key":"dc:contributor","label":"Contributor","values":["Bohrmann, Johannes"]},{"key":"dc:creator","label":"Author","values":["von Bothmer, Jennifer"]}]},{"id":"academic_context","label":"Academic Context","entries":[{"key":"dc:coverage","label":"Dc Coverage","values":["DE"]},{"key":"dc:date","label":"Dc Date","values":["2012"]},{"key":"dc:publisher","label":"Institution","values":["Publikationsserver der RWTH Aachen University"]},{"key":"dc:relation","label":"Dc Relation","values":["info:eu-repo/semantics/altIdentifier/urn/urn:nbn:de:hbz:82-opus-39798"]},{"key":"dc:type","label":"Dc Type","values":["info:eu-repo/semantics/doctoralThesis","info:eu-repo/semantics/publishedVersion"]}]},{"id":"subjects_keywords","label":"Subjects and Keywords","entries":[{"key":"dc:subject","label":"Dc Subject","values":["info:eu-repo/classification/ddc/570","Nierenkrankheit","Zystenniere","Polyzystische Nierendegeneration","Erbkrankheit","Biowissenschaften, Biologie","Zystennierenerkrankung","Ziliopathie","DZIP1L","Bacterial-Two-Hybrid","ARPKD","Polyzystische Nierenerkrankung","Genetische Krankheit","TGF-ß-signaling","Hedgehog-signaling"]}]},{"id":"language_rights","label":"Language and Rights","entries":[{"key":"dc:language","label":"Dc Language","values":["ger"]},{"key":"dc:rights","label":"Dc Rights","values":["info:eu-repo/semantics/openAccess"]}]},{"id":"identifiers","label":"Identifiers","entries":[{"key":"dc:identifier","label":"Identifier","values":["https://publications.rwth-aachen.de/record/62938","https://publications.rwth-aachen.de/search?p=id:%22RWTH-CONV-124413%22"]}]},{"id":"additional","label":"Additional Metadata","entries":[{"key":"dc:description","label":"Description","values":["Polycystic kidney diseases are the most common genetic disorders; the underlying pathomechanisms are incompletely understood so far. One of the involved in the formation of cystic kidneys genes is DZIP1L. DZIP1L has previously been identified in our group as a new gene for polycystic kidney disease by homozygosity mapping of a family with autosomal recessive polycystic kidney disease. It encodes a homolog of the iguana protein in zebrafish, which is involved in the development of the pronephros and plays a role in the hedgehog signaling pathway. Term of this doctoral thesis was the identification of interaction partners of DZIP1L by a bacterial Two Hybrid system to further characterize the function and role of the protein in the cell. Coimmunoprecipitation experiments and immunfluorescence studies in transiently transfected COS7-, HEK293- and mIMCD-3- cells have been performed for validation of the interaction of DZIP1L with EEF1G, NAGK and PSAP. All three identified binding partners are involved in SMAD-/TGF-ß- signaling. NAGK and PSAP are known to directly interact with R-Smads, whereas for EEF1G an interaction with SnoN has been described. SnoN on his part interacts with an R-Smad too. Consequently, the transcription of TGF-ß target genes will be repressed. Overall, it can be postulated that DZIP1L does not only play a role in hedgehog-signaling but also influences cyst formation through modification of TGF-ß-signaling."]},{"key":"dc:source","label":"Dc Source","values":["Aachen : Publikationsserver der RWTH Aachen University X, 114 S. : Ill., graph. Darst. (2012). = Aachen, Techn. Hochsch., Diss., 2012"]},{"key":"dc:title","label":"Title","values":["Identifikation und Charakterisierung von Interaktionspartnern des Zystennierenproteins DZIP1L"]}]}],"canonical_facts":{"dc:contributor":["Bohrmann, Johannes"],"dc:coverage":["DE"],"dc:creator":["von Bothmer, Jennifer"],"dc:date":["2012"],"dc:description":["Polycystic kidney diseases are the most common genetic disorders; the underlying pathomechanisms are incompletely understood so far. One of the involved in the formation of cystic kidneys genes is DZIP1L. DZIP1L has previously been identified in our group as a new gene for polycystic kidney disease by homozygosity mapping of a family with autosomal recessive polycystic kidney disease. It encodes a homolog of the iguana protein in zebrafish, which is involved in the development of the pronephros and plays a role in the hedgehog signaling pathway. Term of this doctoral thesis was the identification of interaction partners of DZIP1L by a bacterial Two Hybrid system to further characterize the function and role of the protein in the cell. Coimmunoprecipitation experiments and immunfluorescence studies in transiently transfected COS7-, HEK293- and mIMCD-3- cells have been performed for validation of the interaction of DZIP1L with EEF1G, NAGK and PSAP. All three identified binding partners are involved in SMAD-/TGF-ß- signaling. NAGK and PSAP are known to directly interact with R-Smads, whereas for EEF1G an interaction with SnoN has been described. SnoN on his part interacts with an R-Smad too. Consequently, the transcription of TGF-ß target genes will be repressed. 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Hochsch., Diss., 2012"],"dc:subject":["info:eu-repo/classification/ddc/570","Nierenkrankheit","Zystenniere","Polyzystische Nierendegeneration","Erbkrankheit","Biowissenschaften, Biologie","Zystennierenerkrankung","Ziliopathie","DZIP1L","Bacterial-Two-Hybrid","ARPKD","Polyzystische Nierenerkrankung","Genetische Krankheit","TGF-ß-signaling","Hedgehog-signaling"],"dc:title":["Identifikation und Charakterisierung von Interaktionspartnern des Zystennierenproteins DZIP1L"],"dc:type":["info:eu-repo/semantics/doctoralThesis","info:eu-repo/semantics/publishedVersion"]},"updated_at":"2026-07-30T19:43:35Z"}