The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking.

Bachmann-Gagescu, Ruxandra; Dona, Margo; Hetterschijt, Lisette; Tonnaer, Edith; Peters, Theo; de Vrieze, Erik; Mans, Dorus A; van Beersum, Sylvia E C; Phelps, Ian G; Arts, Heleen H; Keunen, Jan E; Ueffing, Marius; Roepman, Ronald; Boldt, Karsten; Doherty, Dan; Moens, Cecilia B; Neuhauss, Stephan C F; Kremer, Hannie; van Wijk, Erwin

Bachmann-Gagescu, Ruxandra; Dona, Margo; Hetterschijt, Lisette; Tonnaer, Edith; Peters, Theo; de Vrieze, Erik; Mans, Dorus A; van Beersum, Sylvia E C; Phelps, Ian G; Arts, Heleen H; Keunen, Jan E; Ueffing, Marius; Roepman, Ronald; Boldt, Karsten; Doherty, Dan; Moens, Cecilia B; Neuhauss, Stephan C F; Kremer, Hannie; van Wijk, Erwin.

Afiliación

Bachmann-Gagescu R; Institute for Molecular Life Sciences, University of Zurich, Zurich, Switzerland; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.
Dona M; Department of Otorhinolaryngology, Radboud University Medical Centre, Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, the Netherlands.
Hetterschijt L; Department of Otorhinolaryngology, Radboud University Medical Centre, Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, the Netherlands.
Tonnaer E; Department of Otorhinolaryngology, Radboud University Medical Centre, Nijmegen, the Netherlands.
Peters T; Department of Otorhinolaryngology, Radboud University Medical Centre, Nijmegen, the Netherlands.
de Vrieze E; Department of Otorhinolaryngology, Radboud University Medical Centre, Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, the Netherlands.
Mans DA; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, the Netherlands; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands.
van Beersum SE; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, the Netherlands; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands.
Phelps IG; Department of Pediatrics, University of Washington, Seattle, Washington, United States of America.
Arts HH; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, the Netherlands; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands; Department of Biochemistry, University of Western Ontario, London, Ontario, Canada.
Keunen JE; Department of Ophthalmology, Radboud University Medical Centre, Nijmegen, the Netherlands.
Ueffing M; Division of Experimental Ophthalmology and Medical Proteome Center, Centre for Ophthalmology, Eberhard Karls University Tuebingen, Germany.
Roepman R; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, the Netherlands; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands.
Boldt K; Division of Experimental Ophthalmology and Medical Proteome Center, Centre for Ophthalmology, Eberhard Karls University Tuebingen, Germany.
Doherty D; Department of Pediatrics, University of Washington, Seattle, Washington, United States of America.
Moens CB; Fred Hutchinson Cancer Research Center, Seattle, Washington, United States of America.
Neuhauss SC; Institute for Molecular Life Sciences, University of Zurich, Zurich, Switzerland.
Kremer H; Department of Otorhinolaryngology, Radboud University Medical Centre, Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, the Netherlands; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands.
van Wijk E; Department of Otorhinolaryngology, Radboud University Medical Centre, Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, the Netherlands.

PLoS Genet ; 11(10): e1005575, 2015 Oct.

Article en En | MEDLINE | ID: mdl-26485645

Asunto(s)

Cerebelo/anomalías; Trastornos de la Motilidad Ciliar/genética; Encefalocele/genética; Proteínas Asociadas a Microtúbulos/metabolismo; Oxigenasas de Función Mixta/genética; Proteínas Nucleares/metabolismo; Enfermedades Renales Poliquísticas/genética; Proteínas/genética; Retina/anomalías; Proteínas de Unión al GTP rab/genética; Anomalías Múltiples/genética; Anomalías Múltiples/metabolismo; Anomalías Múltiples/patología; Animales; Cerebelo/metabolismo; Cerebelo/patología; Cilios/genética; Cilios/metabolismo; Cilios/patología; Trastornos de la Motilidad Ciliar/metabolismo; Trastornos de la Motilidad Ciliar/patología; Proteínas del Citoesqueleto; Encefalocele/metabolismo; Encefalocele/patología; Anomalías del Ojo/genética; Anomalías del Ojo/metabolismo; Anomalías del Ojo/patología; Técnicas de Silenciamiento del Gen; Humanos; Enfermedades Renales Quísticas/genética; Enfermedades Renales Quísticas/metabolismo; Enfermedades Renales Quísticas/patología; Proteínas Asociadas a Microtúbulos/genética; Oxigenasas de Función Mixta/metabolismo; Mutación; Proteínas Nucleares/genética; Enfermedades Renales Poliquísticas/metabolismo; Enfermedades Renales Poliquísticas/patología; Transporte de Proteínas/genética; Proteínas/metabolismo; Retina/metabolismo; Retina/patología; Retinitis Pigmentosa; Transducción de Señal; Pez Cebra; Proteínas de Unión al GTP rab/metabolismo

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Retina / Proteínas Nucleares / Proteínas / Cerebelo / Trastornos de la Motilidad Ciliar / Proteínas de Unión al GTP rab / Encefalocele / Oxigenasas de Función Mixta / Enfermedades Renales Poliquísticas / Proteínas Asociadas a Microtúbulos Tipo de estudio: Risk_factors_studies Idioma: En Revista: PLoS Genet Asunto de la revista: GENETICA Año: 2015 Tipo del documento: Article País de afiliación: Suiza

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