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Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila.

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Title: Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila.
Authors: Müller F; Rudolf Schönheimer Institute of Biochemistry, Division of General Biochemistry, Medical Faculty, Leipzig University, Leipzig, 04103, Germany., Neuser S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, 04103, Germany., Shrestha G; Department of Biology, University of Mississippi, Oxford, MS, 38677, USA., Neupane NP; Department of Pharmacological and Pharmaceutical Sciences, College of Pharmacy, University of Houston, Houston, TX, 77204-5037, USA., Götze KJ; Rudolf Schönheimer Institute of Biochemistry, Division of General Biochemistry, Medical Faculty, Leipzig University, Leipzig, 04103, Germany., Brunetti-Pierri N; Department of Translational Medicine, Federico II University, Naples, 80131, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, 80078, Italy.; Genomics and Experimental Medicine Program, Scuola Superiore Meridionale (SSM, School of Advanced Studies), Naples, 80134, Italy., Terrone G; Department of Translational Medicine, Federico II University, Naples, 80131, Italy., Reymond A; Center for Integrative Genomics, University of Lausanne, Lausanne, 1015, Switzerland., van Gassen KL; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584 CX, the Netherlands., Brilstra E; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584 CX, the Netherlands., Steindl K; Institute of Medical Genetics, University of Zürich, Schlieren-Zürich, 8952, Switzerland., Begemann A; Institute of Medical Genetics, University of Zürich, Schlieren-Zürich, 8952, Switzerland., Rauch A; Institute of Medical Genetics, University of Zürich, Schlieren-Zürich, 8952, Switzerland., Rips J; Genetic Department, Hadassah Hebrew University Hospital, Jerusalem, 91120, Israel., Fahham D; Genetic Department, Hadassah Hebrew University Hospital, Jerusalem, 91120, Israel., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, 3015 CN, the Netherlands., Patat O; Service de génétique médicale, Hôpital Purpan, CHU Toulouse, Toulouse, 31300, France., Mortreux J; Laboratoire de Biologie Médicale Multi-Sites AURAGEN, Lyon, 69003, France., Chau MHK; Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, 999077, Hong Kong, China.; The Chinese University of Hong Kong-Baylor College of Medicine Joint Center for Medical Genetics, 999077, Hong Kong, China.; Hong Kong Hub of Paediatric Excellence, The Chinese University of Hong Kong, 999077, Hong Kong, China., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX77030, USA., Mizerik E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA., Srivastava S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX77030, USA.; Baylor Genetics, Houston, TX, 77021, USA., Luo X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX77030, USA.; Baylor Genetics, Houston, TX, 77021, USA., Dahse AK; Rudolf Schönheimer Institute of Biochemistry, Division of General Biochemistry, Medical Faculty, Leipzig University, Leipzig, 04103, Germany., Scholz N; Rudolf Schönheimer Institute of Biochemistry, Division of General Biochemistry, Medical Faculty, Leipzig University, Leipzig, 04103, Germany., Das J; Department of Pharmacological and Pharmaceutical Sciences, College of Pharmacy, University of Houston, Houston, TX, 77204-5037, USA., Roman G; Department of BioMolecular Sciences, University of Mississippi, Oxford, MS, 38677, USA., Langenhan T; Rudolf Schönheimer Institute of Biochemistry, Division of General Biochemistry, Medical Faculty, Leipzig University, Leipzig, 04103, Germany.; Comprehensive Cancer Center Central Germany, Leipzig University, Leipzig, 04103, Germany.; Institute of Biology, Faculty of Life Sciences, Leipzig University, Leipzig, 04103, Germany., Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, 04103, Germany., Mrestani A; Rudolf Schönheimer Institute of Biochemistry, Division of General Biochemistry, Medical Faculty, Leipzig University, Leipzig, 04103, Germany.; Department of Neurology, Leipzig University Medical Center, Leipzig, 04103, Germany., Ljaschenko D; Rudolf Schönheimer Institute of Biochemistry, Division of General Biochemistry, Medical Faculty, Leipzig University, Leipzig, 04103, Germany.
Source: Biochemistry and biophysics reports [Biochem Biophys Rep] 2025 Nov 28; Vol. 45, pp. 102375. Date of Electronic Publication: 2025 Nov 28 (Print Publication: 2026).
Publication Type: Journal Article
Journal Info: Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101660999 Publication Model: eCollection Cited Medium: Internet ISSN: 2405-5808 (Electronic) Linking ISSN: 24055808 NLM ISO Abbreviation: Biochem Biophys Rep Subsets: PubMed not MEDLINE
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  Data: Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila.
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  Data: <searchLink fieldCode="AU" term="%22Müller+F%22">Müller F</searchLink>; Rudolf Schönheimer Institute of Biochemistry, Division of General Biochemistry, Medical Faculty, Leipzig University, Leipzig, 04103, Germany.<br /><searchLink fieldCode="AU" term="%22Neuser+S%22">Neuser S</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, 04103, Germany.<br /><searchLink fieldCode="AU" term="%22Shrestha+G%22">Shrestha G</searchLink>; Department of Biology, University of Mississippi, Oxford, MS, 38677, USA.<br /><searchLink fieldCode="AU" term="%22Neupane+NP%22">Neupane NP</searchLink>; Department of Pharmacological and Pharmaceutical Sciences, College of Pharmacy, University of Houston, Houston, TX, 77204-5037, USA.<br /><searchLink fieldCode="AU" term="%22Götze+KJ%22">Götze KJ</searchLink>; Rudolf Schönheimer Institute of Biochemistry, Division of General Biochemistry, Medical Faculty, Leipzig University, Leipzig, 04103, Germany.<br /><searchLink fieldCode="AU" term="%22Brunetti-Pierri+N%22">Brunetti-Pierri N</searchLink>; Department of Translational Medicine, Federico II University, Naples, 80131, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, 80078, Italy.; Genomics and Experimental Medicine Program, Scuola Superiore Meridionale (SSM, School of Advanced Studies), Naples, 80134, Italy.<br /><searchLink fieldCode="AU" term="%22Terrone+G%22">Terrone G</searchLink>; Department of Translational Medicine, Federico II University, Naples, 80131, Italy.<br /><searchLink fieldCode="AU" term="%22Reymond+A%22">Reymond A</searchLink>; Center for Integrative Genomics, University of Lausanne, Lausanne, 1015, Switzerland.<br /><searchLink fieldCode="AU" term="%22van+Gassen+KL%22">van Gassen KL</searchLink>; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584 CX, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Brilstra+E%22">Brilstra E</searchLink>; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584 CX, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Steindl+K%22">Steindl K</searchLink>; 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Service de génétique médicale, Hôpital Purpan, CHU Toulouse, Toulouse, 31300, France.<br /><searchLink fieldCode="AU" term="%22Mortreux+J%22">Mortreux J</searchLink>; Laboratoire de Biologie Médicale Multi-Sites AURAGEN, Lyon, 69003, France.<br /><searchLink fieldCode="AU" term="%22Chau+MHK%22">Chau MHK</searchLink>; Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, 999077, Hong Kong, China.; The Chinese University of Hong Kong-Baylor College of Medicine Joint Center for Medical Genetics, 999077, Hong Kong, China.; Hong Kong Hub of Paediatric Excellence, The Chinese University of Hong Kong, 999077, Hong Kong, China.<br /><searchLink fieldCode="AU" term="%22Rosenfeld+JA%22">Rosenfeld JA</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX77030, USA.<br /><searchLink fieldCode="AU" term="%22Mizerik+E%22">Mizerik E</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA.<br /><searchLink fieldCode="AU" term="%22Srivastava+S%22">Srivastava S</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX77030, USA.; Baylor Genetics, Houston, TX, 77021, USA.<br /><searchLink fieldCode="AU" term="%22Luo+X%22">Luo X</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX77030, USA.; Baylor Genetics, Houston, TX, 77021, USA.<br /><searchLink fieldCode="AU" term="%22Dahse+AK%22">Dahse AK</searchLink>; Rudolf Schönheimer Institute of Biochemistry, Division of General Biochemistry, Medical Faculty, Leipzig University, Leipzig, 04103, Germany.<br /><searchLink fieldCode="AU" term="%22Scholz+N%22">Scholz N</searchLink>; Rudolf Schönheimer Institute of Biochemistry, Division of General Biochemistry, Medical Faculty, Leipzig University, Leipzig, 04103, Germany.<br /><searchLink fieldCode="AU" term="%22Das+J%22">Das J</searchLink>; Department of Pharmacological and Pharmaceutical Sciences, College of Pharmacy, University of Houston, Houston, TX, 77204-5037, USA.<br /><searchLink fieldCode="AU" term="%22Roman+G%22">Roman G</searchLink>; Department of BioMolecular Sciences, University of Mississippi, Oxford, MS, 38677, USA.<br /><searchLink fieldCode="AU" term="%22Langenhan+T%22">Langenhan T</searchLink>; Rudolf Schönheimer Institute of Biochemistry, Division of General Biochemistry, Medical Faculty, Leipzig University, Leipzig, 04103, Germany.; Comprehensive Cancer Center Central Germany, Leipzig University, Leipzig, 04103, Germany.; Institute of Biology, Faculty of Life Sciences, Leipzig University, Leipzig, 04103, Germany.<br /><searchLink fieldCode="AU" term="%22Abou+Jamra+R%22">Abou Jamra R</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, 04103, Germany.<br /><searchLink fieldCode="AU" term="%22Mrestani+A%22">Mrestani A</searchLink>; Rudolf Schönheimer Institute of Biochemistry, Division of General Biochemistry, Medical Faculty, Leipzig University, Leipzig, 04103, Germany.; Department of Neurology, Leipzig University Medical Center, Leipzig, 04103, Germany.<br /><searchLink fieldCode="AU" term="%22Ljaschenko+D%22">Ljaschenko D</searchLink>; Rudolf Schönheimer Institute of Biochemistry, Division of General Biochemistry, Medical Faculty, Leipzig University, Leipzig, 04103, Germany.
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