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FIBCD1 is an endocytic GAG receptor associated with a novel neurodevelopmental disorder.
Fell, Christopher W; Hagelkruys, Astrid; Cicvaric, Ana; Horrer, Marion; Liu, Lucy; Li, Joshua Shing Shun; Stadlmann, Johannes; Polyansky, Anton A; Mereiter, Stefan; Tejada, Miguel Angel; Kokotovic, Tomislav; Achuta, Venkat Swaroop; Scaramuzza, Angelica; Twyman, Kimberly A; Morrow, Michelle M; Juusola, Jane; Yan, Huifang; Wang, Jingmin; Burmeister, Margit; Choudhury, Biswa; Andersen, Thomas Levin; Wirnsberger, Gerald; Holmskov, Uffe; Perrimon, Norbert; Zagrovic, Bojan; Monje, Francisco J; Moeller, Jesper Bonnet; Penninger, Josef M; Nagy, Vanja.
Afiliación
  • Fell CW; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
  • Hagelkruys A; CeMM, Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • Cicvaric A; Department of Neurology, Medical University of Vienna, Vienna, Austria.
  • Horrer M; VBC - Vienna BioCenter Campus, IMBA, Institute of Molecular Biotechnology of the Austrian Academy of Sciences, Vienna, Austria.
  • Liu L; Department of Neurophysiology and Neuropharmacology, Centre for Physiology and Pharmacology, Medical University of Vienna, Vienna, Austria.
  • Li JSS; Department of Psychiatry and Behavioral Sciences, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.
  • Stadlmann J; VBC - Vienna BioCenter Campus, IMBA, Institute of Molecular Biotechnology of the Austrian Academy of Sciences, Vienna, Austria.
  • Polyansky AA; Department of Genetics, Harvard Medical School, Howard Hughes Medical Institute, Boston, MA, USA.
  • Mereiter S; Department of Genetics, Harvard Medical School, Howard Hughes Medical Institute, Boston, MA, USA.
  • Tejada MA; VBC - Vienna BioCenter Campus, IMBA, Institute of Molecular Biotechnology of the Austrian Academy of Sciences, Vienna, Austria.
  • Kokotovic T; Institute of Biochemistry, University of Natural Resource and Life Sciences, Vienna, Austria.
  • Achuta VS; Department of Structural and Computational Biology, Max Perutz Labs, University of Vienna, Vienna, Austria.
  • Scaramuzza A; MM Shemyakin and Yu A Ovchinnikov Institute of Bioorganic Chemistry, Russian Academy of Sciences, Moscow, Russia.
  • Twyman KA; VBC - Vienna BioCenter Campus, IMBA, Institute of Molecular Biotechnology of the Austrian Academy of Sciences, Vienna, Austria.
  • Morrow MM; VBC - Vienna BioCenter Campus, IMBA, Institute of Molecular Biotechnology of the Austrian Academy of Sciences, Vienna, Austria.
  • Juusola J; Research Unit on Women's Health-Institute of Health Research INCLIVA, Valencia, Spain.
  • Yan H; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
  • Wang J; CeMM, Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • Burmeister M; Department of Neurology, Medical University of Vienna, Vienna, Austria.
  • Choudhury B; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
  • Andersen TL; Department of Neurology, Medical University of Vienna, Vienna, Austria.
  • Wirnsberger G; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
  • Holmskov U; Department of Neurology, Medical University of Vienna, Vienna, Austria.
  • Perrimon N; Mercy Kids Autism Center, Saint Louis, MO, USA.
  • Zagrovic B; GeneDx, Gaithersburg, MD, USA.
  • Monje FJ; GeneDx, Gaithersburg, MD, USA.
  • Moeller JB; Department of Pediatrics, Peking University First Hospital, Beijing, China.
  • Penninger JM; Joint International Research Center of Translational and Clinical Research, Beijing, China.
  • Nagy V; Department of Pediatrics, Peking University First Hospital, Beijing, China.
EMBO Mol Med ; 14(9): e15829, 2022 09 07.
Article en En | MEDLINE | ID: mdl-35916241
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Receptores de Superficie Celular / Trastornos del Neurodesarrollo Tipo de estudio: Risk_factors_studies Límite: Animals / Humans Idioma: En Revista: EMBO Mol Med Asunto de la revista: BIOLOGIA MOLECULAR Año: 2022 Tipo del documento: Article País de afiliación: Austria Pais de publicación: Reino Unido
Texto completo
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XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Receptores de Superficie Celular / Trastornos del Neurodesarrollo Tipo de estudio: Risk_factors_studies Límite: Animals / Humans Idioma: En Revista: EMBO Mol Med Asunto de la revista: BIOLOGIA MOLECULAR Año: 2022 Tipo del documento: Article País de afiliación: Austria Pais de publicación: Reino Unido