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@ARTICLE{Boldt:138561,
      author       = {Boldt, Karsten and van Reeuwijk, Jeroen and Lu, Qianhao and
                      Koutroumpas, Konstantinos and Nguyen, Thanh-Minh T and
                      Texier, Yves and van Beersum, Sylvia E C and Horn, Nicola
                      and Willer, Jason R and Mans, Dorus A and Dougherty, Gerard
                      and Lamers, Ideke J C and Coene, Karlien L M and Arts,
                      Heleen H and Betts, Matthew J and Beyer, Tina and Bolat,
                      Emine and Gloeckner, Christian Johannes and Haidari, Khatera
                      and Hetterschijt, Lisette and Iaconis, Daniela and Jenkins,
                      Dagan and Klose, Franziska and Knapp, Barbara and Latour,
                      Brooke and Letteboer, Stef J F and Marcelis, Carlo L and
                      Mitic, Dragana and Morleo, Manuela and Oud, Machteld M and
                      Riemersma, Moniek and Rix, Susan and Terhal, Paulien A and
                      Toedt, Grischa and van Dam, Teunis J P and de Vrieze, Erik
                      and Wissinger, Yasmin and Wu, Ka Man and Apic, Gordana and
                      Beales, Philip L and Blacque, Oliver E and Gibson, Toby J
                      and Huynen, Martijn A and Katsanis, Nicholas and Kremer,
                      Hannie and Omran, Heymut and van Wijk, Erwin and Wolfrum,
                      Uwe and Kepes, François and Davis, Erica E and Franco,
                      Brunella and Giles, Rachel H and Ueffing, Marius and
                      Russell, Robert B and Roepman, Ronald and Group, UK10K Rare
                      Diseases and Al-Turki, Saeed and Anderson, Carl and Antony,
                      Dinu and Barroso, Inês and Bentham, Jamie and Bhattacharya,
                      Shoumo and Carss, Keren and Chatterjee, Krishna and Cirak,
                      Sebahattin and Cosgrove, Catherine and Danecek, Petr and
                      Durbin, Richard and Fitzpatrick, David and Floyd, Jamie and
                      Reghan Foley, A. and Franklin, Chris and Futema, Marta and
                      Humphries, Steve E and Hurles, Matt and Joyce, Chris and
                      McCarthy, Shane and Mitchison, Hannah M and Muddyman, Dawn
                      and Muntoni, Francesco and O'Rahilly, Stephen and
                      Onoufriadis, Alexandros and Payne, Felicity and Plagnol,
                      Vincent and Raymond, Lucy and Savage, David B and Scambler,
                      Peter and Schmidts, Miriam and Schoenmakers, Nadia and
                      Semple, Robert and Serra, Eva and Stalker, Jim and van
                      Kogelenberg, Margriet and Vijayarangakannan, Parthiban and
                      Walter, Klaudia and Whittall, Ros and Williamson, Kathy},
      title        = {{A}n organelle-specific protein landscape identifies novel
                      diseases and molecular mechanisms.},
      journal      = {Nature Communications},
      volume       = {7},
      number       = {1},
      issn         = {2041-1723},
      address      = {[London]},
      publisher    = {Nature Publishing Group UK},
      reportid     = {DZNE-2020-04883},
      pages        = {11491},
      year         = {2016},
      abstract     = {Cellular organelles provide opportunities to relate
                      biological mechanisms to disease. Here we use affinity
                      proteomics, genetics and cell biology to interrogate cilia:
                      poorly understood organelles, where defects cause genetic
                      diseases. Two hundred and seventeen tagged human ciliary
                      proteins create a final landscape of 1,319 proteins, 4,905
                      interactions and 52 complexes. Reverse tagging, repetition
                      of purifications and statistical analyses, produce a
                      high-resolution network that reveals organelle-specific
                      interactions and complexes not apparent in larger studies,
                      and links vesicle transport, the cytoskeleton, signalling
                      and ubiquitination to ciliary signalling and proteostasis.
                      We observe sub-complexes in exocyst and intraflagellar
                      transport complexes, which we validate biochemically, and by
                      probing structurally predicted, disruptive, genetic variants
                      from ciliary disease patients. The landscape suggests other
                      genetic diseases could be ciliary including 3M syndrome. We
                      show that 3M genes are involved in ciliogenesis, and that
                      patient fibroblasts lack cilia. Overall, this
                      organelle-specific targeting strategy shows considerable
                      promise for Systems Medicine.},
      keywords     = {Biological Transport: physiology / Chromatography,
                      Affinity: methods / Cilia: metabolism / Ciliopathies:
                      genetics / Ciliopathies: pathology / Ciliopathies: therapy /
                      DNA Mutational Analysis / Datasets as Topic / Dwarfism:
                      genetics / Dwarfism: pathology / Dwarfism: therapy /
                      Fibroblasts / HEK293 Cells / Humans / Mass Spectrometry /
                      Molecular Targeted Therapy: methods / Muscle Hypotonia:
                      genetics / Muscle Hypotonia: pathology / Muscle Hypotonia:
                      therapy / Protein Interaction Mapping: methods / Protein
                      Interaction Maps / Proteins: genetics / Proteins: isolation
                      $\&$ purification / Proteins: metabolism / Proteomics:
                      methods / Spine: abnormalities / Spine: pathology / Systems
                      Analysis / Proteins (NLM Chemicals)},
      cin          = {AG Gloeckner},
      ddc          = {500},
      cid          = {I:(DE-2719)1210007},
      pnm          = {345 - Population Studies and Genetics (POF3-345)},
      pid          = {G:(DE-HGF)POF3-345},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:27173435},
      pmc          = {pmc:PMC4869170},
      doi          = {10.1038/ncomms11491},
      url          = {https://pub.dzne.de/record/138561},
}