G
Gudrun Nürnberg
Researcher at University of Cologne
Publications - 144
Citations - 13488
Gudrun Nürnberg is an academic researcher from University of Cologne. The author has contributed to research in topics: Disease gene identification & Missense mutation. The author has an hindex of 62, co-authored 141 publications receiving 12063 citations. Previous affiliations of Gudrun Nürnberg include Boston Children's Hospital & Max Delbrück Center for Molecular Medicine.
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Journal ArticleDOI
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
John A. Sayer,John A. Sayer,Edgar A. Otto,John F. O'Toole,Gudrun Nürnberg,Michael A. Kennedy,Christian Becker,Hans Christian Hennies,Juliana Helou,Massimo Attanasio,Blake V. Fausett,Boris Utsch,Hemant Khanna,Yan Liu,Iain A. Drummond,Isao Kawakami,Takehiro Kusakabe,Motoyuki Tsuda,Li Ma,Hwankyu Lee,Ronald G. Larson,Susan J. Allen,Christopher J. Wilkinson,Erich A. Nigg,Chengchao Shou,Concepción Lillo,David S. Williams,Bernd Hoppe,Markus J. Kemper,Thomas J. Neuhaus,Melissa A. Parisi,Ian A. Glass,Marianne Petry,Andreas Kispert,Joachim Gloy,Athina Ganner,Gerd Walz,Xueliang Zhu,Daniel Goldman,Peter Nürnberg,Anand Swaroop,Michel R. Leroux,Friedhelm Hildebrandt +42 more
TL;DR: These findings help establish the link between centrosome function, tissue architecture and transcriptional control in the pathogenesis of cystic kidney disease, retinal degeneration, and central nervous system development.
Journal ArticleDOI
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.
Bernward Hinkes,Roger C. Wiggins,Rasheed Gbadegesin,Christopher N. Vlangos,Dominik Seelow,Gudrun Nürnberg,Puneet Garg,Rakesh Verma,Hassan Chaib,Bethan E. Hoskins,Shazia Ashraf,Christian Becker,Hans Christian Hennies,Meera Goyal,Bryan L. Wharram,Asher D. Schachter,Sudha Mudumana,Iain A. Drummond,Dontscho Kerjaschki,Rüdiger Waldherr,Alexander Dietrich,Fatih Ozaltin,Aysin Bakkaloglu,Roxana Cleper,Roxana Cleper,Lina Basel-Vanagaite,Lina Basel-Vanagaite,Martin Pohl,Martin Griebel,Alexey N. Tsygin,Alper Soylu,Dominik N. Müller,Caroline S. Sorli,Tom D. Bunney,Matilda Katan,Jinhong Liu,Massimo Attanasio,John F. O'Toole,Katrin Hasselbacher,Bettina E. Mucha,Edgar A. Otto,Rannar Airik,Andreas Kispert,Grant G. Kelley,Alan V. Smrcka,Thomas Gudermann,Lawrence B. Holzman,Peter Nürnberg,Friedhelm Hildebrandt +48 more
TL;DR: These findings, together with the zebrafish model of human nephrotic syndrome generated by plce1 knockdown, open new inroads into pathophysiology and treatment mechanisms of nephrotsic syndrome.
Journal ArticleDOI
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome
Mathieu Lemaire,Véronique Frémeaux-Bacchi,Franz Schaefer,Murim Choi,Wai Ho Tang,Moglie Le Quintrec,Fadi Fakhouri,Sophie Taque,François Nobili,Frank Martinez,Weizhen Ji,John D. Overton,Shrikant Mane,Gudrun Nürnberg,Janine Altmüller,Holger Thiele,Denis Morin,Georges Deschênes,Véronique Baudouin,Brigitte Llanas,Laure Collard,Mohammed Abdul Majid,Eva Simkova,Peter Nürnberg,Nathalie Rioux-Leclerc,Gilbert W. Moeckel,Marie Claire Gubler,John Hwa,Chantal Loirat,Richard P. Lifton +29 more
TL;DR: Using exome sequencing, it is inferred that loss of DGKE function results in a prothrombotic state, identifying a new mechanism of pathologic thrombosis and kidney failure and have immediate implications for treating individuals with aHUS.
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Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11.
Udo zur Stadt,Jan Rohr,Wenke Seifert,Wenke Seifert,Florian Koch,Samantha Grieve,Julia Pagel,Julia Strauß,Brigitte Kasper,Gudrun Nürnberg,Christian Becker,Andrea Maul-Pavicic,Karin Beutel,Gritta Janka,Gillian M. Griffiths,Stephan Ehl,Hans Christian Hennies +16 more
TL;DR: A key role is identified for STXBP2 in lytic granule exocytosis in FHL-5 patients, where activity of natural killer and cytotoxic T cells was markedly reduced or absent, as determined by CD107 degranulation.
Journal ArticleDOI
Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling
Moumita Chaki,Rannar Airik,Amiya K. Ghosh,Rachel H. Giles,Rui Chen,Gisela G. Slaats,Hui Wang,Toby W. Hurd,Weibin Zhou,Andrew Cluckey,Heon Yung Gee,Gokul Ramaswami,Chen Jei Hong,Bruce A. Hamilton,Igor Cervenka,Ranjani Sri Ganji,Vitezslav Bryja,Vitezslav Bryja,Heleen H. Arts,Jeroen van Reeuwijk,Machteld M. Oud,Stef J.F. Letteboer,Ronald Roepman,Hervé Husson,Oxana Ibraghimov-Beskrovnaya,Takayuki Yasunaga,Gerd Walz,Lorraine Eley,John A. Sayer,Bernhard Schermer,Max C. Liebau,Thomas Benzing,Stéphanie Le Corre,Iain A. Drummond,Sabine Janssen,Susan J. Allen,Sivakumar Natarajan,John F. O’Toole,Massimo Attanasio,Sophie Saunier,Corinne Antignac,Robert K. Koenekoop,Huanan Ren,Irma Lopez,Ahmet Nayir,Corinne Stoetzel,Hélène Dollfus,Rustin Massoudi,Joseph G. Gleeson,Sharon P. Andreoli,Dan G. Doherty,Anna Lindstrad,Christelle Golzio,Nicholas Katsanis,Lars Pape,Emad B. Abboud,Ali A. Al-Rajhi,Richard A. Lewis,Heymut Omran,Eva Y.-H. P. Lee,Shaohui Wang,JoAnn Sekiguchi,Rudel A. Saunders,Colin A. Johnson,Elizabeth Garner,K. Vanselow,Jens S. Andersen,Joseph Shlomai,Gudrun Nürnberg,Peter Nürnberg,Shawn Levy,Agata Smogorzewska,Edgar A. Otto,Friedhelm Hildebrandt,Friedhelm Hildebrandt +74 more
TL;DR: It is shown that knockdown of CEP164 or ZNF423 causes sensitivity to DNA damaging agents and that cep164 knockdown in zebrafish results in dysregulated DDR and an NPHP-RC phenotype, and these findings link degenerative diseases of the kidney and retina, disorders of increasing prevalence, to mechanisms of DDR.