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Experimental and Computational Analysis of Newly Identified Pathogenic Mutations in the Creatine Transporter SLC6A8.
Ferrada, Evandro; Wiedmer, Tabea; Wang, Wen-An; Frommelt, Fabian; Steurer, Barbara; Klimek, Christoph; Lindinger, Sabrina; Osthushenrich, Tanja; Garofoli, Andrea; Brocchetti, Silvia; Bradberry, Samuel; Huang, Jiahui; MacNamara, Aidan; Scarabottolo, Lia; Ecker, Gerhard F; Malarstig, Anders; Superti-Furga, Giulio.
Affiliation
  • Ferrada E; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria. Electronic address: EFerrada@cemm.oeaw.ac.at.
  • Wiedmer T; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • Wang WA; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • Frommelt F; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • Steurer B; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • Klimek C; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • Lindinger S; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • Osthushenrich T; Bayer AG, Pharmaceuticals, Wuppertal, Germany.
  • Garofoli A; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • Brocchetti S; Axxam SpA, Bresso, Milano, Italy.
  • Bradberry S; Axxam SpA, Bresso, Milano, Italy.
  • Huang J; Department of Pharmaceutical Sciences, University of Vienna, Vienna, Austria.
  • MacNamara A; Bayer AG, Pharmaceuticals, Wuppertal, Germany.
  • Scarabottolo L; Axxam SpA, Bresso, Milano, Italy.
  • Ecker GF; Department of Pharmaceutical Sciences, University of Vienna, Vienna, Austria.
  • Malarstig A; Pfizer Worldwide Research, Development and Medical, Stockholm, Sweden.
  • Superti-Furga G; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria; Center for Physiology and Pharmacology, Medical University of Vienna, Vienna, Austria. Electronic address: GSuperti@cemm.oeaw.ac.at.
J Mol Biol ; 436(2): 168383, 2024 01 15.
Article in En | MEDLINE | ID: mdl-38070861
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Creatine / Brain Diseases, Metabolic, Inborn / Mental Retardation, X-Linked / Plasma Membrane Neurotransmitter Transport Proteins / Nerve Tissue Proteins Limits: Humans Language: En Journal: J Mol Biol Year: 2024 Document type: Article
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Creatine / Brain Diseases, Metabolic, Inborn / Mental Retardation, X-Linked / Plasma Membrane Neurotransmitter Transport Proteins / Nerve Tissue Proteins Limits: Humans Language: En Journal: J Mol Biol Year: 2024 Document type: Article