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Beta-Propeller-Protein-assoziierte Neurodegeneration (German Wikipedia)

Analysis of information sources in references of the Wikipedia article "Beta-Propeller-Protein-assoziierte Neurodegeneration" in German language version.

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29doi.org
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28zdb-katalog.de
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26nih.gov
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3elsevier.com
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2oup.com
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2hoffnungsbaum.de
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2nature.com
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2tandfonline.com
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1omim.org
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1uni-muenchen.de
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1neurology.org
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1nbiacure.org
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1aerzteblatt.de
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1dystonie.de
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1sciencedirect.com
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1cshlp.org
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1globenewswire.com
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aerzteblatt.de

aisnaf.org

cshlp.org

perspectivesinmedicine.cshlp.org

doi.org

  • Susan J. Hayflick, Michael C. Kruer, Allison Gregory, Tobias B. Haack, Manju A. Kurian: Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. In: Brain. Band 136, Nr. 6, 1. Juni 2013, ISSN 0006-8950, S. 1708–1717, doi:10.1093/brain/awt095, PMID 23687123, PMC 3673459 (freier Volltext) – (oup.com [abgerufen am 28. April 2018]).
  • Tobias B. Haack, Penelope Hogarth, Michael C. Kruer, Allison Gregory, Thomas Wieland: Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA. In: The American Journal of Human Genetics. Band 91, Nr. 6, Dezember 2012, ISSN 0002-9297, S. 1144–1149, doi:10.1016/j.ajhg.2012.10.019, PMID 23176820, PMC 3516593 (freier Volltext) – (elsevier.com [abgerufen am 28. April 2018]).
  • Jenny L Wilson, Allison Gregory, Manju A Kurian, Ittai Bushlin, Fanny Mochel: Consensus clinical management guideline for beta-propeller protein-associated neurodegeneration. In: Bernard Dan (Hrsg.): Developmental Medicine & Child Neurology. Mac Keith Press, 4. August 2021, ISSN 0012-1622, doi:10.1111/dmcn.14980, PMID 34347296 (englisch).
  • Kjersti Eline Stige, Ivar Otto Gjerde, Gunnar Houge, Per Morten Knappskog, Charalampos Tzoulis: Beta-propeller protein-associated neurodegeneration: a case report and review of the literature. In: Clinical Case Reports. Band 6, Nr. 2, 4. Januar 2018, ISSN 2050-0904, S. 353–362, doi:10.1002/ccr3.1358, PMID 29445477, PMC 5799652 (freier Volltext).
  • Yuri A Zarate, Julie R Jones, Melanie A Jones, Francisca Millan, Jane Juusola: Lessons from a pair of siblings with BPAN. In: European Journal of Human Genetics. Band 24, Nr. 7, 18. November 2015, ISSN 1018-4813, S. 1080–1083, doi:10.1038/ejhg.2015.242, PMID 26577041, PMC 5070893 (freier Volltext).
  • Ian M. Campbell, Bo Yuan, Caroline Robberecht, Rolph Pfundt, Przemyslaw Szafranski: Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders. In: American Journal of Human Genetics. Band 95, Nr. 2, 7. August 2014, ISSN 0002-9297, S. 173–182, doi:10.1016/j.ajhg.2014.07.003, PMID 25087610, PMC 4129404 (freier Volltext).
  • Tassula Proikas-Cezanne, Scott Waddell, Anja Gaugel, Tancred Frickey, Andrei Lupas: WIPI-1α (WIPI49), a member of the novel 7-bladed WIPI protein family, is aberrantly expressed in human cancer and is linked to starvation-induced autophagy. In: Oncogene. Band 23, Nr. 58, Dezember 2004, ISSN 0950-9232, S. 9314–9325, doi:10.1038/sj.onc.1208331.
  • T. Proikas-Cezanne, Z. Takacs, P. Donnes, O. Kohlbacher: WIPI proteins: essential PtdIns3P effectors at the nascent autophagosome. In: Journal of Cell Science. Band 128, Nr. 2, 15. Januar 2015, ISSN 0021-9533, S. 207–217, doi:10.1242/jcs.146258.
  • Daniela Bakula, Amelie J. Müller, Theresia Zuleger, Zsuzsanna Takacs, Mirita Franz-Wachtel, Ann-Katrin Thost, Daniel Brigger, Mario P. Tschan, Tancred Frickey, Horst Robenek, Boris Macek & Tassula Proikas-Cezanne: WIPI3 and WIPI4 β-propellers are scaffolds for LKB1-AMPK-TSC signalling circuits in the control of autophagy. In: Nature Communications. Band 8, 31. Mai 2017, ISSN 2041-1723, S. 15637, doi:10.1038/ncomms15637, PMID 28561066, PMC 5460038 (freier Volltext).
  • Saikat Chowdhury, Chinatsu Otomo, Alexander Leitner, Kazuto Ohashi, Ruedi Aebersold, Gabriel C. Lander, Takanori Otomoa: Insights into autophagosome biogenesis from structural and biochemical analyses of the ATG2A-WIPI4 complex. In: Proceedings of the National Academy of Sciences of the United States of America. Band 115, Nr. 42, 5. September 2018, ISSN 1091-6490, S. E9792–E9801, doi:10.1073/pnas.1811874115, PMID 30185561, PMC 6196511 (freier Volltext).
  • Takanori Otomo, Saikat Chowdhury, Gabriel C. Lander: The Rod-Shaped ATG2A-WIPI4 Complex Tethers Membranes In Vitro. In: Contact. Band 1, 21. Dezember 2018, ISSN 2515-2564, doi:10.1177/2515256418819936, PMID 30766969, PMC 6372110 (freier Volltext).
  • Shintaro Maeda, Chinatsu Otomo, Takanori Otomo: The autophagic membrane tether ATG2A transfers lipids between membranes. In: eLife. Band 8, 4. Juli 2019, ISSN 2050-084X, doi:10.7554/eLife.45777, PMID 31271352, PMC 6625793 (freier Volltext).
  • Philip Seibler, Lena F Burbulla, Marija Dulovic, Simone Zittel, Johanne Heine: Iron overload is accompanied by mitochondrial and lysosomal dysfunction in WDR45 mutant cells. In: Brain. Band 141, Nr. 10, 30. August 2018, ISSN 0006-8950, S. 3052–3064, doi:10.1093/brain/awy230 (oup.com [abgerufen am 28. September 2018]).
  • Geon Ha Kim, Jieun E. Kim, Sandy Jeong Rhie, Sujung Yoon: The Role of Oxidative Stress in Neurodegenerative Diseases. In: C. Justin Lee, Jong Eun Lee, Byung-Ok Choi (Hrsg.): Experimental Neurobiology. Band 24, Nr. 4, 12. Oktober 2015, ISSN 1226-2560, S. 325, doi:10.5607/en.2015.24.4.325, PMID 26713080, PMC 4688332 (freier Volltext).
  • Yuta Ichinose, Michiaki Miwa, Akiko Onohara, Kimiko Obi, Kazumasa Shindo: Characteristic MRI findings in beta-propeller protein-associated neurodegeneration (BPAN). In: Neurology: Clinical Practice. Band 4, Nr. 2, 1. April 2014, ISSN 2163-0402, S. 175–177, doi:10.1212/01.CPJ.0000437694.17888.9b, PMID 24790802, PMC 4001181 (freier Volltext) – (neurology.org [abgerufen am 28. April 2018]).
  • Camilla Russo, Anna Ardissone, Elena Freri, Serena Gasperini, Marco Moscatelli, Giovanna Zorzi, Celeste Panteghini, Barbara Castellotti, Barbara Garavaglia, Nardo Nardocci, Luisa Chiapparini: Substantia Nigra Swelling and Dentate Nucleus T2 Hyperintensity May Be Early Magnetic Resonance Imaging Signs of β-Propeller Protein-Associated Neurodegeneration: Early MRI Features in 4 Cases of BPAN. In: Kailash Bhatia, Marcelo Merello, International Parkinson and Movement Disorder Society (Hrsg.): Movement Disorders - Clinical Practice. Band 6, Nr. 1. John Wiley & Sons, Inc., 10. Oktober 2018, S. 51–56, doi:10.1002/mdc3.12693, PMID 30746416, PMC 6335537 (freier Volltext).
  • Elizabeth G Neal, Hannah Chaffe, Ruby H Schwartz, Margaret S Lawson, Nicole Edwards: The ketogenic diet for the treatment of childhood epilepsy: a randomised controlled trial. In: The Lancet Neurology. Band 7, Nr. 6, Juni 2008, ISSN 1474-4422, S. 500–506, doi:10.1016/s1474-4422(08)70092-9.
  • Eunjoo Lee, Hoon-Chul Kang, Heung Dong Kim: Ketogenic Diet for Children with Epilepsy: A Practical Meal Plan in a Hospital. In: Clinical Nutrition Research. Band 5, Nr. 1, 2016, ISSN 2287-3732, S. 60, doi:10.7762/cnr.2016.5.1.60, PMID 26839878, PMC 4731863 (freier Volltext).
  • Penelope Hogarth: Neurodegeneration with brain iron accumulation: diagnosis and management. In: Journal of Movement Disorders. Band 8, Nr. 1, Januar 2015, ISSN 2005-940X, S. 1–13, doi:10.14802/jmd.14034, PMID 25614780, PMC 4298713 (freier Volltext).
  • Petr Dusek, Susanne A. Schneider, Jan Aaseth: Iron chelation in the treatment of neurodegenerative diseases. In: Dirk Schaumlöffel (Hrsg.): Journal of Trace Elements in Medicine and Biology. Band 38. Elsevier, Dezember 2016, ISSN 0946-672X, S. 81–92, doi:10.1016/j.jtemb.2016.03.010 (sciencedirect.com [abgerufen am 25. September 2018]).
  • Shen-Yang Lim, Ai Huey Tan, Azlina Ahmad-Annuar, Susanne A. Schneider, Ping Chong Bee: A Patient with Beta-Propeller Protein-Associated Neurodegeneration: Treatment with Iron Chelation Therapy. In: Journal of Movement Disorders. Band 11, Nr. 2, Mai 2018, ISSN 2005-940X, S. 89–92, doi:10.14802/jmd.17082, PMID 29860786, PMC 5990906 (freier Volltext) – (englisch).
  • Mattia Fonderico, Michele Laudisi, Nico Golfrè Andreasi, Stefania Bigoni, Costanza Lamperti et al.: Patient Affected by Beta-Propeller Protein-Associated Neurodegeneration: A Therapeutic Attempt with Iron Chelation Therapy. In: Frontiers in Neurology. Band 8, 2017, ISSN 1664-2295, S. 385, doi:10.3389/fneur.2017.00385, PMID 28878728, PMC 5573443 (freier Volltext) – (englisch).
  • Joungmok Kim, Mondira Kundu, Benoit Viollet, Kun-Liang Guan: AMPK and mTOR regulate autophagy through direct phosphorylation of Ulk1. In: Nature Cell Biology. Band 13, Nr. 2, Februar 2011, ISSN 1465-7392, S. 132–141, doi:10.1038/ncb2152, PMID 21258367, PMC 3987946 (freier Volltext) – (englisch, nature.com [abgerufen am 19. Oktober 2021]).
  • Dudley W. Lamming: Inhibition of the Mechanistic Target of Rapamycin (mTOR)–Rapamycin and Beyond. In: Cold Spring Harbor Perspectives in Medicine. Band 6, Nr. 5, Mai 2016, ISSN 2157-1422, S. a025924, doi:10.1101/cshperspect.a025924, PMID 27048303, PMC 4852795 (freier Volltext) – (englisch, cshlp.org [abgerufen am 19. Oktober 2021]).
  • Jordi Bové, Marta Martínez-Vicente, Miquel Vila: Fighting neurodegeneration with rapamycin: mechanistic insights. In: Nature Reviews Neuroscience. Band 12, Nr. 8, August 2011, ISSN 1471-003X, S. 437–452, doi:10.1038/nrn3068 (englisch, nature.com [abgerufen am 19. Oktober 2021]).
  • Huida Wan, Qi Wang, Xiuting Chen, Qiufang Zeng, Yanjiao Shao: WDR45 contributes to neurodegeneration through regulation of ER homeostasis and neuronal death. In: Autophagy. Band 16, Nr. 3, 3. März 2020, ISSN 1554-8627, S. 531–547, doi:10.1080/15548627.2019.1630224, PMID 31204559, PMC 6999610 (freier Volltext) – (englisch, tandfonline.com [abgerufen am 19. Oktober 2021]).
  • Cuicui Ji, Hongyu Zhao, Di Chen, Hong Zhang, Yan G. Zhao: β-propeller proteins WDR45 and WDR45B regulate autophagosome maturation into autolysosomes in neural cells. In: Current Biology. Band 31, Nr. 8, April 2021, S. 1666–1677.e6, doi:10.1016/j.cub.2021.01.081 (englisch, elsevier.com [abgerufen am 19. Oktober 2021]).
  • Rachel M. Wise, Annika Wagener, Urban M. Fietzek, Thomas Klopstock, Eugene V. Mosharov, Fabio A. Zucca, David Sulzer, Luigi Zecca, Lena F. Burbulla: Interactions of dopamine, iron, and alpha-synuclein linked to dopaminergic neuron vulnerability in Parkinson's disease and Neurodegeneration with Brain Iron Accumulation disorders. In: Dr. Erwan Bezard et al. (Hrsg.): Neurobiology of Disease. Band 175. Elsevier, Dezember 2022, ISSN 0969-9961, S. 105920, doi:10.1016/j.nbd.2022.105920, PMID 36351559 (englisch, elsevier.com).
  • Afshin Saffari, Julian Schröter, Sven F. Garbade, Julian E. Alecu, Darius Ebrahimi-Fakhari, Georg F. Hoffmann, Stefan Kölker, Markus Ries, Steffen Syrbe: Quantitative retrospective natural history modeling of WDR45 -related developmental and epileptic encephalopathy – a systematic cross-sectional analysis of 160 published cases. In: Autophagy. Taylor & Francis Online, 24. November 2021, ISSN 1554-8627, S. 1–13, doi:10.1080/15548627.2021.1990671, PMID 34818117 (tandfonline.com [abgerufen am 9. Februar 2022]).

dystonie.de

elsevier.com

linkinghub.elsevier.com

  • Tobias B. Haack, Penelope Hogarth, Michael C. Kruer, Allison Gregory, Thomas Wieland: Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA. In: The American Journal of Human Genetics. Band 91, Nr. 6, Dezember 2012, ISSN 0002-9297, S. 1144–1149, doi:10.1016/j.ajhg.2012.10.019, PMID 23176820, PMC 3516593 (freier Volltext) – (elsevier.com [abgerufen am 28. April 2018]).
  • Cuicui Ji, Hongyu Zhao, Di Chen, Hong Zhang, Yan G. Zhao: β-propeller proteins WDR45 and WDR45B regulate autophagosome maturation into autolysosomes in neural cells. In: Current Biology. Band 31, Nr. 8, April 2021, S. 1666–1677.e6, doi:10.1016/j.cub.2021.01.081 (englisch, elsevier.com [abgerufen am 19. Oktober 2021]).
  • Rachel M. Wise, Annika Wagener, Urban M. Fietzek, Thomas Klopstock, Eugene V. Mosharov, Fabio A. Zucca, David Sulzer, Luigi Zecca, Lena F. Burbulla: Interactions of dopamine, iron, and alpha-synuclein linked to dopaminergic neuron vulnerability in Parkinson's disease and Neurodegeneration with Brain Iron Accumulation disorders. In: Dr. Erwan Bezard et al. (Hrsg.): Neurobiology of Disease. Band 175. Elsevier, Dezember 2022, ISSN 0969-9961, S. 105920, doi:10.1016/j.nbd.2022.105920, PMID 36351559 (englisch, elsevier.com).

globenewswire.com

hoffnungsbaum.de

nature.com

  • Joungmok Kim, Mondira Kundu, Benoit Viollet, Kun-Liang Guan: AMPK and mTOR regulate autophagy through direct phosphorylation of Ulk1. In: Nature Cell Biology. Band 13, Nr. 2, Februar 2011, ISSN 1465-7392, S. 132–141, doi:10.1038/ncb2152, PMID 21258367, PMC 3987946 (freier Volltext) – (englisch, nature.com [abgerufen am 19. Oktober 2021]).
  • Jordi Bové, Marta Martínez-Vicente, Miquel Vila: Fighting neurodegeneration with rapamycin: mechanistic insights. In: Nature Reviews Neuroscience. Band 12, Nr. 8, August 2011, ISSN 1471-003X, S. 437–452, doi:10.1038/nrn3068 (englisch, nature.com [abgerufen am 19. Oktober 2021]).

nbiacure.org

  • BPAN. In: NBIA Disorders. NBIA cure, abgerufen am 28. April 2018 (englisch).

neurology.org

cp.neurology.org

nih.gov

ncbi.nlm.nih.gov

  • Susan J. Hayflick, Michael C. Kruer, Allison Gregory, Tobias B. Haack, Manju A. Kurian: Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. In: Brain. Band 136, Nr. 6, 1. Juni 2013, ISSN 0006-8950, S. 1708–1717, doi:10.1093/brain/awt095, PMID 23687123, PMC 3673459 (freier Volltext) – (oup.com [abgerufen am 28. April 2018]).
  • Allison Gregory, Susan Hayflick: Neurodegeneration with Brain Iron Accumulation Disorders Overview. In: GeneReviews®. University of Washington, Seattle, Seattle (WA) 2013, PMID 23447832 (englisch, nih.gov [abgerufen am 7. November 2019]).
  • Tobias B. Haack, Penelope Hogarth, Michael C. Kruer, Allison Gregory, Thomas Wieland: Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA. In: The American Journal of Human Genetics. Band 91, Nr. 6, Dezember 2012, ISSN 0002-9297, S. 1144–1149, doi:10.1016/j.ajhg.2012.10.019, PMID 23176820, PMC 3516593 (freier Volltext) – (elsevier.com [abgerufen am 28. April 2018]).
  • Jenny L Wilson, Allison Gregory, Manju A Kurian, Ittai Bushlin, Fanny Mochel: Consensus clinical management guideline for beta-propeller protein-associated neurodegeneration. In: Bernard Dan (Hrsg.): Developmental Medicine & Child Neurology. Mac Keith Press, 4. August 2021, ISSN 0012-1622, doi:10.1111/dmcn.14980, PMID 34347296 (englisch).
  • Allison Gregory, Manju A. Kurian, Tobias Haack, Susan J. Hayflick, Penelope Hogarth: Beta-Propeller Protein-Associated Neurodegeneration. In: Margaret P. Adam, Holly H. Ardinger, Roberta A. Pagon, Stephanie E. Wallace (Hrsg.): GeneReviews® [Internet]. University of Washington, 16. Februar 2017, ISSN 2372-0697, PMID 28211668 (nih.gov).
  • Kjersti Eline Stige, Ivar Otto Gjerde, Gunnar Houge, Per Morten Knappskog, Charalampos Tzoulis: Beta-propeller protein-associated neurodegeneration: a case report and review of the literature. In: Clinical Case Reports. Band 6, Nr. 2, 4. Januar 2018, ISSN 2050-0904, S. 353–362, doi:10.1002/ccr3.1358, PMID 29445477, PMC 5799652 (freier Volltext).
  • Yuri A Zarate, Julie R Jones, Melanie A Jones, Francisca Millan, Jane Juusola: Lessons from a pair of siblings with BPAN. In: European Journal of Human Genetics. Band 24, Nr. 7, 18. November 2015, ISSN 1018-4813, S. 1080–1083, doi:10.1038/ejhg.2015.242, PMID 26577041, PMC 5070893 (freier Volltext).
  • Ian M. Campbell, Bo Yuan, Caroline Robberecht, Rolph Pfundt, Przemyslaw Szafranski: Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders. In: American Journal of Human Genetics. Band 95, Nr. 2, 7. August 2014, ISSN 0002-9297, S. 173–182, doi:10.1016/j.ajhg.2014.07.003, PMID 25087610, PMC 4129404 (freier Volltext).
  • Daniela Bakula, Amelie J. Müller, Theresia Zuleger, Zsuzsanna Takacs, Mirita Franz-Wachtel, Ann-Katrin Thost, Daniel Brigger, Mario P. Tschan, Tancred Frickey, Horst Robenek, Boris Macek & Tassula Proikas-Cezanne: WIPI3 and WIPI4 β-propellers are scaffolds for LKB1-AMPK-TSC signalling circuits in the control of autophagy. In: Nature Communications. Band 8, 31. Mai 2017, ISSN 2041-1723, S. 15637, doi:10.1038/ncomms15637, PMID 28561066, PMC 5460038 (freier Volltext).
  • Saikat Chowdhury, Chinatsu Otomo, Alexander Leitner, Kazuto Ohashi, Ruedi Aebersold, Gabriel C. Lander, Takanori Otomoa: Insights into autophagosome biogenesis from structural and biochemical analyses of the ATG2A-WIPI4 complex. In: Proceedings of the National Academy of Sciences of the United States of America. Band 115, Nr. 42, 5. September 2018, ISSN 1091-6490, S. E9792–E9801, doi:10.1073/pnas.1811874115, PMID 30185561, PMC 6196511 (freier Volltext).
  • Takanori Otomo, Saikat Chowdhury, Gabriel C. Lander: The Rod-Shaped ATG2A-WIPI4 Complex Tethers Membranes In Vitro. In: Contact. Band 1, 21. Dezember 2018, ISSN 2515-2564, doi:10.1177/2515256418819936, PMID 30766969, PMC 6372110 (freier Volltext).
  • Shintaro Maeda, Chinatsu Otomo, Takanori Otomo: The autophagic membrane tether ATG2A transfers lipids between membranes. In: eLife. Band 8, 4. Juli 2019, ISSN 2050-084X, doi:10.7554/eLife.45777, PMID 31271352, PMC 6625793 (freier Volltext).
  • Geon Ha Kim, Jieun E. Kim, Sandy Jeong Rhie, Sujung Yoon: The Role of Oxidative Stress in Neurodegenerative Diseases. In: C. Justin Lee, Jong Eun Lee, Byung-Ok Choi (Hrsg.): Experimental Neurobiology. Band 24, Nr. 4, 12. Oktober 2015, ISSN 1226-2560, S. 325, doi:10.5607/en.2015.24.4.325, PMID 26713080, PMC 4688332 (freier Volltext).
  • Yuta Ichinose, Michiaki Miwa, Akiko Onohara, Kimiko Obi, Kazumasa Shindo: Characteristic MRI findings in beta-propeller protein-associated neurodegeneration (BPAN). In: Neurology: Clinical Practice. Band 4, Nr. 2, 1. April 2014, ISSN 2163-0402, S. 175–177, doi:10.1212/01.CPJ.0000437694.17888.9b, PMID 24790802, PMC 4001181 (freier Volltext) – (neurology.org [abgerufen am 28. April 2018]).
  • Camilla Russo, Anna Ardissone, Elena Freri, Serena Gasperini, Marco Moscatelli, Giovanna Zorzi, Celeste Panteghini, Barbara Castellotti, Barbara Garavaglia, Nardo Nardocci, Luisa Chiapparini: Substantia Nigra Swelling and Dentate Nucleus T2 Hyperintensity May Be Early Magnetic Resonance Imaging Signs of β-Propeller Protein-Associated Neurodegeneration: Early MRI Features in 4 Cases of BPAN. In: Kailash Bhatia, Marcelo Merello, International Parkinson and Movement Disorder Society (Hrsg.): Movement Disorders - Clinical Practice. Band 6, Nr. 1. John Wiley & Sons, Inc., 10. Oktober 2018, S. 51–56, doi:10.1002/mdc3.12693, PMID 30746416, PMC 6335537 (freier Volltext).
  • Eunjoo Lee, Hoon-Chul Kang, Heung Dong Kim: Ketogenic Diet for Children with Epilepsy: A Practical Meal Plan in a Hospital. In: Clinical Nutrition Research. Band 5, Nr. 1, 2016, ISSN 2287-3732, S. 60, doi:10.7762/cnr.2016.5.1.60, PMID 26839878, PMC 4731863 (freier Volltext).
  • Penelope Hogarth: Neurodegeneration with brain iron accumulation: diagnosis and management. In: Journal of Movement Disorders. Band 8, Nr. 1, Januar 2015, ISSN 2005-940X, S. 1–13, doi:10.14802/jmd.14034, PMID 25614780, PMC 4298713 (freier Volltext).
  • Shen-Yang Lim, Ai Huey Tan, Azlina Ahmad-Annuar, Susanne A. Schneider, Ping Chong Bee: A Patient with Beta-Propeller Protein-Associated Neurodegeneration: Treatment with Iron Chelation Therapy. In: Journal of Movement Disorders. Band 11, Nr. 2, Mai 2018, ISSN 2005-940X, S. 89–92, doi:10.14802/jmd.17082, PMID 29860786, PMC 5990906 (freier Volltext) – (englisch).
  • Mattia Fonderico, Michele Laudisi, Nico Golfrè Andreasi, Stefania Bigoni, Costanza Lamperti et al.: Patient Affected by Beta-Propeller Protein-Associated Neurodegeneration: A Therapeutic Attempt with Iron Chelation Therapy. In: Frontiers in Neurology. Band 8, 2017, ISSN 1664-2295, S. 385, doi:10.3389/fneur.2017.00385, PMID 28878728, PMC 5573443 (freier Volltext) – (englisch).
  • Joungmok Kim, Mondira Kundu, Benoit Viollet, Kun-Liang Guan: AMPK and mTOR regulate autophagy through direct phosphorylation of Ulk1. In: Nature Cell Biology. Band 13, Nr. 2, Februar 2011, ISSN 1465-7392, S. 132–141, doi:10.1038/ncb2152, PMID 21258367, PMC 3987946 (freier Volltext) – (englisch, nature.com [abgerufen am 19. Oktober 2021]).
  • Dudley W. Lamming: Inhibition of the Mechanistic Target of Rapamycin (mTOR)–Rapamycin and Beyond. In: Cold Spring Harbor Perspectives in Medicine. Band 6, Nr. 5, Mai 2016, ISSN 2157-1422, S. a025924, doi:10.1101/cshperspect.a025924, PMID 27048303, PMC 4852795 (freier Volltext) – (englisch, cshlp.org [abgerufen am 19. Oktober 2021]).
  • Huida Wan, Qi Wang, Xiuting Chen, Qiufang Zeng, Yanjiao Shao: WDR45 contributes to neurodegeneration through regulation of ER homeostasis and neuronal death. In: Autophagy. Band 16, Nr. 3, 3. März 2020, ISSN 1554-8627, S. 531–547, doi:10.1080/15548627.2019.1630224, PMID 31204559, PMC 6999610 (freier Volltext) – (englisch, tandfonline.com [abgerufen am 19. Oktober 2021]).
  • Rachel M. Wise, Annika Wagener, Urban M. Fietzek, Thomas Klopstock, Eugene V. Mosharov, Fabio A. Zucca, David Sulzer, Luigi Zecca, Lena F. Burbulla: Interactions of dopamine, iron, and alpha-synuclein linked to dopaminergic neuron vulnerability in Parkinson's disease and Neurodegeneration with Brain Iron Accumulation disorders. In: Dr. Erwan Bezard et al. (Hrsg.): Neurobiology of Disease. Band 175. Elsevier, Dezember 2022, ISSN 0969-9961, S. 105920, doi:10.1016/j.nbd.2022.105920, PMID 36351559 (englisch, elsevier.com).
  • Afshin Saffari, Julian Schröter, Sven F. Garbade, Julian E. Alecu, Darius Ebrahimi-Fakhari, Georg F. Hoffmann, Stefan Kölker, Markus Ries, Steffen Syrbe: Quantitative retrospective natural history modeling of WDR45 -related developmental and epileptic encephalopathy – a systematic cross-sectional analysis of 160 published cases. In: Autophagy. Taylor & Francis Online, 24. November 2021, ISSN 1554-8627, S. 1–13, doi:10.1080/15548627.2021.1990671, PMID 34818117 (tandfonline.com [abgerufen am 9. Februar 2022]).

ghr.nlm.nih.gov

omim.org

oup.com

academic.oup.com

  • Susan J. Hayflick, Michael C. Kruer, Allison Gregory, Tobias B. Haack, Manju A. Kurian: Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. In: Brain. Band 136, Nr. 6, 1. Juni 2013, ISSN 0006-8950, S. 1708–1717, doi:10.1093/brain/awt095, PMID 23687123, PMC 3673459 (freier Volltext) – (oup.com [abgerufen am 28. April 2018]).
  • Philip Seibler, Lena F Burbulla, Marija Dulovic, Simone Zittel, Johanne Heine: Iron overload is accompanied by mitochondrial and lysosomal dysfunction in WDR45 mutant cells. In: Brain. Band 141, Nr. 10, 30. August 2018, ISSN 0006-8950, S. 3052–3064, doi:10.1093/brain/awy230 (oup.com [abgerufen am 28. September 2018]).

sciencedirect.com

  • Petr Dusek, Susanne A. Schneider, Jan Aaseth: Iron chelation in the treatment of neurodegenerative diseases. In: Dirk Schaumlöffel (Hrsg.): Journal of Trace Elements in Medicine and Biology. Band 38. Elsevier, Dezember 2016, ISSN 0946-672X, S. 81–92, doi:10.1016/j.jtemb.2016.03.010 (sciencedirect.com [abgerufen am 25. September 2018]).

tandfonline.com

  • Huida Wan, Qi Wang, Xiuting Chen, Qiufang Zeng, Yanjiao Shao: WDR45 contributes to neurodegeneration through regulation of ER homeostasis and neuronal death. In: Autophagy. Band 16, Nr. 3, 3. März 2020, ISSN 1554-8627, S. 531–547, doi:10.1080/15548627.2019.1630224, PMID 31204559, PMC 6999610 (freier Volltext) – (englisch, tandfonline.com [abgerufen am 19. Oktober 2021]).
  • Afshin Saffari, Julian Schröter, Sven F. Garbade, Julian E. Alecu, Darius Ebrahimi-Fakhari, Georg F. Hoffmann, Stefan Kölker, Markus Ries, Steffen Syrbe: Quantitative retrospective natural history modeling of WDR45 -related developmental and epileptic encephalopathy – a systematic cross-sectional analysis of 160 published cases. In: Autophagy. Taylor & Francis Online, 24. November 2021, ISSN 1554-8627, S. 1–13, doi:10.1080/15548627.2021.1990671, PMID 34818117 (tandfonline.com [abgerufen am 9. Februar 2022]).

uni-muenchen.de

klinikum.uni-muenchen.de

zdb-katalog.de

  • Susan J. Hayflick, Michael C. Kruer, Allison Gregory, Tobias B. Haack, Manju A. Kurian: Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. In: Brain. Band 136, Nr. 6, 1. Juni 2013, ISSN 0006-8950, S. 1708–1717, doi:10.1093/brain/awt095, PMID 23687123, PMC 3673459 (freier Volltext) – (oup.com [abgerufen am 28. April 2018]).
  • Tobias B. Haack, Penelope Hogarth, Michael C. Kruer, Allison Gregory, Thomas Wieland: Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA. In: The American Journal of Human Genetics. Band 91, Nr. 6, Dezember 2012, ISSN 0002-9297, S. 1144–1149, doi:10.1016/j.ajhg.2012.10.019, PMID 23176820, PMC 3516593 (freier Volltext) – (elsevier.com [abgerufen am 28. April 2018]).
  • Jenny L Wilson, Allison Gregory, Manju A Kurian, Ittai Bushlin, Fanny Mochel: Consensus clinical management guideline for beta-propeller protein-associated neurodegeneration. In: Bernard Dan (Hrsg.): Developmental Medicine & Child Neurology. Mac Keith Press, 4. August 2021, ISSN 0012-1622, doi:10.1111/dmcn.14980, PMID 34347296 (englisch).
  • Allison Gregory, Manju A. Kurian, Tobias Haack, Susan J. Hayflick, Penelope Hogarth: Beta-Propeller Protein-Associated Neurodegeneration. In: Margaret P. Adam, Holly H. Ardinger, Roberta A. Pagon, Stephanie E. Wallace (Hrsg.): GeneReviews® [Internet]. University of Washington, 16. Februar 2017, ISSN 2372-0697, PMID 28211668 (nih.gov).
  • Kjersti Eline Stige, Ivar Otto Gjerde, Gunnar Houge, Per Morten Knappskog, Charalampos Tzoulis: Beta-propeller protein-associated neurodegeneration: a case report and review of the literature. In: Clinical Case Reports. Band 6, Nr. 2, 4. Januar 2018, ISSN 2050-0904, S. 353–362, doi:10.1002/ccr3.1358, PMID 29445477, PMC 5799652 (freier Volltext).
  • Yuri A Zarate, Julie R Jones, Melanie A Jones, Francisca Millan, Jane Juusola: Lessons from a pair of siblings with BPAN. In: European Journal of Human Genetics. Band 24, Nr. 7, 18. November 2015, ISSN 1018-4813, S. 1080–1083, doi:10.1038/ejhg.2015.242, PMID 26577041, PMC 5070893 (freier Volltext).
  • Ian M. Campbell, Bo Yuan, Caroline Robberecht, Rolph Pfundt, Przemyslaw Szafranski: Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders. In: American Journal of Human Genetics. Band 95, Nr. 2, 7. August 2014, ISSN 0002-9297, S. 173–182, doi:10.1016/j.ajhg.2014.07.003, PMID 25087610, PMC 4129404 (freier Volltext).
  • Tassula Proikas-Cezanne, Scott Waddell, Anja Gaugel, Tancred Frickey, Andrei Lupas: WIPI-1α (WIPI49), a member of the novel 7-bladed WIPI protein family, is aberrantly expressed in human cancer and is linked to starvation-induced autophagy. In: Oncogene. Band 23, Nr. 58, Dezember 2004, ISSN 0950-9232, S. 9314–9325, doi:10.1038/sj.onc.1208331.
  • T. Proikas-Cezanne, Z. Takacs, P. Donnes, O. Kohlbacher: WIPI proteins: essential PtdIns3P effectors at the nascent autophagosome. In: Journal of Cell Science. Band 128, Nr. 2, 15. Januar 2015, ISSN 0021-9533, S. 207–217, doi:10.1242/jcs.146258.
  • Daniela Bakula, Amelie J. Müller, Theresia Zuleger, Zsuzsanna Takacs, Mirita Franz-Wachtel, Ann-Katrin Thost, Daniel Brigger, Mario P. Tschan, Tancred Frickey, Horst Robenek, Boris Macek & Tassula Proikas-Cezanne: WIPI3 and WIPI4 β-propellers are scaffolds for LKB1-AMPK-TSC signalling circuits in the control of autophagy. In: Nature Communications. Band 8, 31. Mai 2017, ISSN 2041-1723, S. 15637, doi:10.1038/ncomms15637, PMID 28561066, PMC 5460038 (freier Volltext).
  • Saikat Chowdhury, Chinatsu Otomo, Alexander Leitner, Kazuto Ohashi, Ruedi Aebersold, Gabriel C. Lander, Takanori Otomoa: Insights into autophagosome biogenesis from structural and biochemical analyses of the ATG2A-WIPI4 complex. In: Proceedings of the National Academy of Sciences of the United States of America. Band 115, Nr. 42, 5. September 2018, ISSN 1091-6490, S. E9792–E9801, doi:10.1073/pnas.1811874115, PMID 30185561, PMC 6196511 (freier Volltext).
  • Takanori Otomo, Saikat Chowdhury, Gabriel C. Lander: The Rod-Shaped ATG2A-WIPI4 Complex Tethers Membranes In Vitro. In: Contact. Band 1, 21. Dezember 2018, ISSN 2515-2564, doi:10.1177/2515256418819936, PMID 30766969, PMC 6372110 (freier Volltext).
  • Shintaro Maeda, Chinatsu Otomo, Takanori Otomo: The autophagic membrane tether ATG2A transfers lipids between membranes. In: eLife. Band 8, 4. Juli 2019, ISSN 2050-084X, doi:10.7554/eLife.45777, PMID 31271352, PMC 6625793 (freier Volltext).
  • Philip Seibler, Lena F Burbulla, Marija Dulovic, Simone Zittel, Johanne Heine: Iron overload is accompanied by mitochondrial and lysosomal dysfunction in WDR45 mutant cells. In: Brain. Band 141, Nr. 10, 30. August 2018, ISSN 0006-8950, S. 3052–3064, doi:10.1093/brain/awy230 (oup.com [abgerufen am 28. September 2018]).
  • Geon Ha Kim, Jieun E. Kim, Sandy Jeong Rhie, Sujung Yoon: The Role of Oxidative Stress in Neurodegenerative Diseases. In: C. Justin Lee, Jong Eun Lee, Byung-Ok Choi (Hrsg.): Experimental Neurobiology. Band 24, Nr. 4, 12. Oktober 2015, ISSN 1226-2560, S. 325, doi:10.5607/en.2015.24.4.325, PMID 26713080, PMC 4688332 (freier Volltext).
  • Yuta Ichinose, Michiaki Miwa, Akiko Onohara, Kimiko Obi, Kazumasa Shindo: Characteristic MRI findings in beta-propeller protein-associated neurodegeneration (BPAN). In: Neurology: Clinical Practice. Band 4, Nr. 2, 1. April 2014, ISSN 2163-0402, S. 175–177, doi:10.1212/01.CPJ.0000437694.17888.9b, PMID 24790802, PMC 4001181 (freier Volltext) – (neurology.org [abgerufen am 28. April 2018]).
  • Elizabeth G Neal, Hannah Chaffe, Ruby H Schwartz, Margaret S Lawson, Nicole Edwards: The ketogenic diet for the treatment of childhood epilepsy: a randomised controlled trial. In: The Lancet Neurology. Band 7, Nr. 6, Juni 2008, ISSN 1474-4422, S. 500–506, doi:10.1016/s1474-4422(08)70092-9.
  • Eunjoo Lee, Hoon-Chul Kang, Heung Dong Kim: Ketogenic Diet for Children with Epilepsy: A Practical Meal Plan in a Hospital. In: Clinical Nutrition Research. Band 5, Nr. 1, 2016, ISSN 2287-3732, S. 60, doi:10.7762/cnr.2016.5.1.60, PMID 26839878, PMC 4731863 (freier Volltext).
  • Penelope Hogarth: Neurodegeneration with brain iron accumulation: diagnosis and management. In: Journal of Movement Disorders. Band 8, Nr. 1, Januar 2015, ISSN 2005-940X, S. 1–13, doi:10.14802/jmd.14034, PMID 25614780, PMC 4298713 (freier Volltext).
  • Petr Dusek, Susanne A. Schneider, Jan Aaseth: Iron chelation in the treatment of neurodegenerative diseases. In: Dirk Schaumlöffel (Hrsg.): Journal of Trace Elements in Medicine and Biology. Band 38. Elsevier, Dezember 2016, ISSN 0946-672X, S. 81–92, doi:10.1016/j.jtemb.2016.03.010 (sciencedirect.com [abgerufen am 25. September 2018]).
  • Shen-Yang Lim, Ai Huey Tan, Azlina Ahmad-Annuar, Susanne A. Schneider, Ping Chong Bee: A Patient with Beta-Propeller Protein-Associated Neurodegeneration: Treatment with Iron Chelation Therapy. In: Journal of Movement Disorders. Band 11, Nr. 2, Mai 2018, ISSN 2005-940X, S. 89–92, doi:10.14802/jmd.17082, PMID 29860786, PMC 5990906 (freier Volltext) – (englisch).
  • Mattia Fonderico, Michele Laudisi, Nico Golfrè Andreasi, Stefania Bigoni, Costanza Lamperti et al.: Patient Affected by Beta-Propeller Protein-Associated Neurodegeneration: A Therapeutic Attempt with Iron Chelation Therapy. In: Frontiers in Neurology. Band 8, 2017, ISSN 1664-2295, S. 385, doi:10.3389/fneur.2017.00385, PMID 28878728, PMC 5573443 (freier Volltext) – (englisch).
  • Joungmok Kim, Mondira Kundu, Benoit Viollet, Kun-Liang Guan: AMPK and mTOR regulate autophagy through direct phosphorylation of Ulk1. In: Nature Cell Biology. Band 13, Nr. 2, Februar 2011, ISSN 1465-7392, S. 132–141, doi:10.1038/ncb2152, PMID 21258367, PMC 3987946 (freier Volltext) – (englisch, nature.com [abgerufen am 19. Oktober 2021]).
  • Dudley W. Lamming: Inhibition of the Mechanistic Target of Rapamycin (mTOR)–Rapamycin and Beyond. In: Cold Spring Harbor Perspectives in Medicine. Band 6, Nr. 5, Mai 2016, ISSN 2157-1422, S. a025924, doi:10.1101/cshperspect.a025924, PMID 27048303, PMC 4852795 (freier Volltext) – (englisch, cshlp.org [abgerufen am 19. Oktober 2021]).
  • Jordi Bové, Marta Martínez-Vicente, Miquel Vila: Fighting neurodegeneration with rapamycin: mechanistic insights. In: Nature Reviews Neuroscience. Band 12, Nr. 8, August 2011, ISSN 1471-003X, S. 437–452, doi:10.1038/nrn3068 (englisch, nature.com [abgerufen am 19. Oktober 2021]).
  • Huida Wan, Qi Wang, Xiuting Chen, Qiufang Zeng, Yanjiao Shao: WDR45 contributes to neurodegeneration through regulation of ER homeostasis and neuronal death. In: Autophagy. Band 16, Nr. 3, 3. März 2020, ISSN 1554-8627, S. 531–547, doi:10.1080/15548627.2019.1630224, PMID 31204559, PMC 6999610 (freier Volltext) – (englisch, tandfonline.com [abgerufen am 19. Oktober 2021]).
  • Rachel M. Wise, Annika Wagener, Urban M. Fietzek, Thomas Klopstock, Eugene V. Mosharov, Fabio A. Zucca, David Sulzer, Luigi Zecca, Lena F. Burbulla: Interactions of dopamine, iron, and alpha-synuclein linked to dopaminergic neuron vulnerability in Parkinson's disease and Neurodegeneration with Brain Iron Accumulation disorders. In: Dr. Erwan Bezard et al. (Hrsg.): Neurobiology of Disease. Band 175. Elsevier, Dezember 2022, ISSN 0969-9961, S. 105920, doi:10.1016/j.nbd.2022.105920, PMID 36351559 (englisch, elsevier.com).
  • Afshin Saffari, Julian Schröter, Sven F. Garbade, Julian E. Alecu, Darius Ebrahimi-Fakhari, Georg F. Hoffmann, Stefan Kölker, Markus Ries, Steffen Syrbe: Quantitative retrospective natural history modeling of WDR45 -related developmental and epileptic encephalopathy – a systematic cross-sectional analysis of 160 published cases. In: Autophagy. Taylor & Francis Online, 24. November 2021, ISSN 1554-8627, S. 1–13, doi:10.1080/15548627.2021.1990671, PMID 34818117 (tandfonline.com [abgerufen am 9. Februar 2022]).