Truncated variants of MAGEL2 are involved in the etiologies of the Schaaf-Yang and Prader-Willi syndromes.

Autor: Heimdörfer D; Institute of Genomics and RNomics, Biocenter Innsbruck, Medical University of Innsbruck, Innrain 80/82, 6020 Innsbruck, Austria. Electronic address: david.heimdoerfer@i-med.ac.at., Vorleuter A; Institute of Genomics and RNomics, Biocenter Innsbruck, Medical University of Innsbruck, Innrain 80/82, 6020 Innsbruck, Austria., Eschlböck A; Institute for Molecular Biology, Genomics, Stem Cell Biology & Regenerative Medicine Group, University of Innsbruck and CMBI, Technikerstr. 25, 6020 Innsbruck, Austria., Spathopoulou A; Institute for Molecular Biology, Genomics, Stem Cell Biology & Regenerative Medicine Group, University of Innsbruck and CMBI, Technikerstr. 25, 6020 Innsbruck, Austria., Suarez-Cubero M; Institute for Molecular Biology, Genomics, Stem Cell Biology & Regenerative Medicine Group, University of Innsbruck and CMBI, Technikerstr. 25, 6020 Innsbruck, Austria., Farhan H; Institute of Pathophysiology, Biocenter, Medical University of Innsbruck, Innrain 80/82, 6020 Innsbruck, Austria., Reiterer V; Institute of Pathophysiology, Biocenter, Medical University of Innsbruck, Innrain 80/82, 6020 Innsbruck, Austria., Spanjaard M; Institute of Human Genetics, Heidelberg University, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany., Schaaf CP; Institute of Human Genetics, Heidelberg University, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany., Huber LA; Institute of Cell Biology, Biocenter, Medical University of Innsbruck, Innrain 80/82, Innsbruck 6020, Austria., Kremser L; Institute of Medical Biochemistry, Protein Core Facility, Biocenter, Medical University of Innsbruck, Innrain 80/82, 6020 Innsbruck, Austria., Sarg B; Institute of Medical Biochemistry, Protein Core Facility, Biocenter, Medical University of Innsbruck, Innrain 80/82, 6020 Innsbruck, Austria., Edenhofer F; Institute for Molecular Biology, Genomics, Stem Cell Biology & Regenerative Medicine Group, University of Innsbruck and CMBI, Technikerstr. 25, 6020 Innsbruck, Austria., Geley S; Institute of Pathophysiology, Biocenter, Medical University of Innsbruck, Innrain 80/82, 6020 Innsbruck, Austria., de Araujo MEG; Institute of Cell Biology, Biocenter, Medical University of Innsbruck, Innrain 80/82, Innsbruck 6020, Austria., Huettenhofer A; Institute of Genomics and RNomics, Biocenter Innsbruck, Medical University of Innsbruck, Innrain 80/82, 6020 Innsbruck, Austria. Electronic address: alexander.huettenhofer@i-med.ac.at.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2024 Jul 11; Vol. 111 (7), pp. 1383-1404. Date of Electronic Publication: 2024 Jun 21.

Structure of the lysosomal mTORC1-TFEB-Rag-Ragulator megacomplex.

Autor: Cui Z; Department of Molecular and Cell Biology, University of California Berkeley, Berkeley, CA, USA.; California Institute for Quantitative Biosciences, University of California, Berkeley, CA, USA., Napolitano G; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.; Medical Genetics Unit, Department of Medical and Translational Science, Federico II University, Naples, Italy., de Araujo MEG; Institute of Cell Biology, Biocenter, Medical University of Innsbruck, Innsbruck, Austria., Esposito A; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.; Medical Genetics Unit, Department of Medical and Translational Science, Federico II University, Naples, Italy., Monfregola J; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.; Medical Genetics Unit, Department of Medical and Translational Science, Federico II University, Naples, Italy., Huber LA; Institute of Cell Biology, Biocenter, Medical University of Innsbruck, Innsbruck, Austria., Ballabio A; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy. ballabio@tigem.it.; Medical Genetics Unit, Department of Medical and Translational Science, Federico II University, Naples, Italy. ballabio@tigem.it.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. ballabio@tigem.it.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA. ballabio@tigem.it.; SSM School for Advanced Studies, Federico II University, Naples, Italy. ballabio@tigem.it., Hurley JH; Department of Molecular and Cell Biology, University of California Berkeley, Berkeley, CA, USA. jimhurley@berkeley.edu.; California Institute for Quantitative Biosciences, University of California, Berkeley, CA, USA. jimhurley@berkeley.edu.; Helen Wills Neuroscience Institute, University of California, Berkeley, Berkeley, CA, USA. jimhurley@berkeley.edu.

Publikováno v: Nature [Nature] 2023 Feb; Vol. 614 (7948), pp. 572-579. Date of Electronic Publication: 2023 Jan 25.

G3BPs tether the TSC complex to lysosomes and suppress mTORC1 signaling.

Autor: Prentzell MT; Brain Cancer Metabolism Group, German Consortium of Translational Cancer Research (DKTK) & German Cancer Research Center (DKFZ), Heidelberg 69120, Germany; Department of Pediatrics, Section Systems Medicine of Metabolism and Signaling, University of Groningen, University Medical Center Groningen, Groningen 9700 RB, The Netherlands; Department of Bioinformatics and Molecular Genetics (Faculty of Biology), University of Freiburg, Freiburg 79104, Germany; Spemann Graduate School of Biology and Medicine (SGBM), University of Freiburg, Freiburg 79104, Germany., Rehbein U; Department of Pediatrics, Section Systems Medicine of Metabolism and Signaling, University of Groningen, University Medical Center Groningen, Groningen 9700 RB, The Netherlands; Department for Neuroscience, School of Medicine and Health Sciences, Carl von Ossietzky University Oldenburg, Oldenburg 26129, Germany; Institute of Biochemistry and Center for Molecular Biosciences Innsbruck, University of Innsbruck, Innsbruck 6020, Austria., Cadena Sandoval M; Department of Pediatrics, Section Systems Medicine of Metabolism and Signaling, University of Groningen, University Medical Center Groningen, Groningen 9700 RB, The Netherlands; Institute of Biochemistry and Center for Molecular Biosciences Innsbruck, University of Innsbruck, Innsbruck 6020, Austria., De Meulemeester AS; Laboratory for Molecular Biodiscovery, Department of Pharmaceutical and Pharmacological Sciences, University of Leuven, Leuven BE-3000, Belgium., Baumeister R; Department of Bioinformatics and Molecular Genetics (Faculty of Biology), University of Freiburg, Freiburg 79104, Germany; Spemann Graduate School of Biology and Medicine (SGBM), University of Freiburg, Freiburg 79104, Germany; Signalling Research Centres BIOSS and CIBSS & ZBMZ Center for Biochemistry and Molecular Cell Research (Faculty of Medicine), University of Freiburg, Freiburg 79104, Germany., Brohée L; Cell Growth Control in Health and Age-Related Disease Group, Max Planck Institute for Biology of Ageing (MPI-AGE), Cologne 50931, Germany., Berdel B; Brain Cancer Metabolism Group, German Consortium of Translational Cancer Research (DKTK) & German Cancer Research Center (DKFZ), Heidelberg 69120, Germany., Bockwoldt M; Department of Arctic and Marine Biology, UiT The Arctic University of Norway, Tromsø 9037, Norway., Carroll B; School of Biochemistry, Biomedical Sciences Building, University Walk, Bristol BS8 1TD, UK., Chowdhury SR; Cell Signaling and Metabolism Group, German Cancer Research Center (DKFZ), Heidelberg 69120, Germany., von Deimling A; German Consortium of Translational Cancer Research (DKTK), Clinical Cooperation Unit Neuropathology, German Cancer Research Center (DKFZ), Heidelberg 69120, Germany; Department of Neuropathology, Institute of Pathology, Heidelberg University, Heidelberg 69120, Germany., Demetriades C; Cell Growth Control in Health and Age-Related Disease Group, Max Planck Institute for Biology of Ageing (MPI-AGE), Cologne 50931, Germany; CECAD Cluster of Excellence, University of Cologne, Cologne 50931, Germany., Figlia G; Signal Transduction in Cancer and Metabolism, German Cancer Research Center (DKFZ), Heidelberg 69120, Germany; Heidelberg University, Heidelberg 69120, Germany., de Araujo MEG; Institute of Cell Biology, Biocenter, Medical University of Innsbruck, Innsbruck 6020, Austria., Heberle AM; Department of Pediatrics, Section Systems Medicine of Metabolism and Signaling, University of Groningen, University Medical Center Groningen, Groningen 9700 RB, The Netherlands; Institute of Biochemistry and Center for Molecular Biosciences Innsbruck, University of Innsbruck, Innsbruck 6020, Austria., Heiland I; Department of Arctic and Marine Biology, UiT The Arctic University of Norway, Tromsø 9037, Norway., Holzwarth B; Department of Bioinformatics and Molecular Genetics (Faculty of Biology), University of Freiburg, Freiburg 79104, Germany., Huber LA; Institute of Cell Biology, Biocenter, Medical University of Innsbruck, Innsbruck 6020, Austria; Austrian Drug Screening Institute (ADSI), Innsbruck 6020, Austria., Jaworski J; Laboratory of Molecular and Cellular Neurobiology, International Institute of Molecular and Cell Biology in Warsaw, Warsaw 02-109, Poland., Kedra M; Laboratory of Molecular and Cellular Neurobiology, International Institute of Molecular and Cell Biology in Warsaw, Warsaw 02-109, Poland., Kern K; Brain Cancer Metabolism Group, German Consortium of Translational Cancer Research (DKTK) & German Cancer Research Center (DKFZ), Heidelberg 69120, Germany., Kopach A; Laboratory of Molecular and Cellular Neurobiology, International Institute of Molecular and Cell Biology in Warsaw, Warsaw 02-109, Poland., Korolchuk VI; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK., van 't Land-Kuper I; Department of Pediatrics, Section Systems Medicine of Metabolism and Signaling, University of Groningen, University Medical Center Groningen, Groningen 9700 RB, The Netherlands; Department for Neuroscience, School of Medicine and Health Sciences, Carl von Ossietzky University Oldenburg, Oldenburg 26129, Germany., Macias M; Laboratory of Molecular and Cellular Neurobiology, International Institute of Molecular and Cell Biology in Warsaw, Warsaw 02-109, Poland., Nellist M; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 GD, The Netherlands., Palm W; Cell Signaling and Metabolism Group, German Cancer Research Center (DKFZ), Heidelberg 69120, Germany., Pusch S; German Consortium of Translational Cancer Research (DKTK), Clinical Cooperation Unit Neuropathology, German Cancer Research Center (DKFZ), Heidelberg 69120, Germany; Department of Neuropathology, Institute of Pathology, Heidelberg University, Heidelberg 69120, Germany., Ramos Pittol JM; Institute of Biochemistry and Center for Molecular Biosciences Innsbruck, University of Innsbruck, Innsbruck 6020, Austria., Reil M; Brain Cancer Metabolism Group, German Consortium of Translational Cancer Research (DKTK) & German Cancer Research Center (DKFZ), Heidelberg 69120, Germany., Reintjes A; Institute of Biochemistry and Center for Molecular Biosciences Innsbruck, University of Innsbruck, Innsbruck 6020, Austria., Reuter F; Brain Cancer Metabolism Group, German Consortium of Translational Cancer Research (DKTK) & German Cancer Research Center (DKFZ), Heidelberg 69120, Germany., Sampson JR; Institute of Medical Genetics, Division of Cancer and Genetics, Cardiff University Medical School, Cardiff CF14 4AY, UK., Scheldeman C; Laboratory for Molecular Biodiscovery, Department of Pharmaceutical and Pharmacological Sciences, University of Leuven, Leuven BE-3000, Belgium; Neurogenetics Research Group, VUB, Brussels 1090, Belgium., Siekierska A; Laboratory for Molecular Biodiscovery, Department of Pharmaceutical and Pharmacological Sciences, University of Leuven, Leuven BE-3000, Belgium., Stefan E; Institute of Biochemistry and Center for Molecular Biosciences Innsbruck, University of Innsbruck, Innsbruck 6020, Austria., Teleman AA; Signal Transduction in Cancer and Metabolism, German Cancer Research Center (DKFZ), Heidelberg 69120, Germany; Heidelberg University, Heidelberg 69120, Germany., Thomas LE; Institute of Life Science, Swansea University, Swansea SA2 8PP, UK., Torres-Quesada O; Institute of Biochemistry and Center for Molecular Biosciences Innsbruck, University of Innsbruck, Innsbruck 6020, Austria., Trump S; Molecular Epidemiology Unit, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin 13353, Germany., West HD; Institute of Medical Genetics, Division of Cancer and Genetics, Cardiff University Medical School, Cardiff CF14 4AY, UK., de Witte P; Laboratory for Molecular Biodiscovery, Department of Pharmaceutical and Pharmacological Sciences, University of Leuven, Leuven BE-3000, Belgium., Woltering S; Brain Cancer Metabolism Group, German Consortium of Translational Cancer Research (DKTK) & German Cancer Research Center (DKFZ), Heidelberg 69120, Germany., Yordanov TE; Institute of Cell Biology, Biocenter, Medical University of Innsbruck, Innsbruck 6020, Austria; Division of Cell and Developmental Biology, Institute for Molecular Bioscience, University of Queensland, St Lucia QLD 4072, Australia., Zmorzynska J; Laboratory of Molecular and Cellular Neurobiology, International Institute of Molecular and Cell Biology in Warsaw, Warsaw 02-109, Poland., Opitz CA; Brain Cancer Metabolism Group, German Consortium of Translational Cancer Research (DKTK) & German Cancer Research Center (DKFZ), Heidelberg 69120, Germany; Department of Neurology, University Hospital Heidelberg and National Center for Tumor Diseases, Heidelberg 69120, Germany. Electronic address: c.opitz@dkfz.de., Thedieck K; Department of Pediatrics, Section Systems Medicine of Metabolism and Signaling, University of Groningen, University Medical Center Groningen, Groningen 9700 RB, The Netherlands; Department for Neuroscience, School of Medicine and Health Sciences, Carl von Ossietzky University Oldenburg, Oldenburg 26129, Germany; Institute of Biochemistry and Center for Molecular Biosciences Innsbruck, University of Innsbruck, Innsbruck 6020, Austria. Electronic address: kathrin.thedieck@uibk.ac.at.

Publikováno v: Cell [Cell] 2021 Feb 04; Vol. 184 (3), pp. 655-674.e27. Date of Electronic Publication: 2021 Jan 25.

A substrate-specific mTORC1 pathway underlies Birt-Hogg-Dubé syndrome.

Autor: Napolitano G; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.; Medical Genetics Unit, Department of Medical and Translational Science, Federico II University, Naples, Italy., Di Malta C; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy., Esposito A; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy., de Araujo MEG; Institute of Cell Biology, Biocenter, Medical University of Innsbruck, Innsbruck, Austria., Pece S; IEO, European Institute of Oncology IRCCS, Milan, Italy.; Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy., Bertalot G; IEO, European Institute of Oncology IRCCS, Milan, Italy., Matarese M; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy., Benedetti V; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy., Zampelli A; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy., Stasyk T; Institute of Cell Biology, Biocenter, Medical University of Innsbruck, Innsbruck, Austria., Siciliano D; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy., Venuta A; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy., Cesana M; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy., Vilardo C; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy., Nusco E; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy., Monfregola J; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy., Calcagnì A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA., Di Fiore PP; IEO, European Institute of Oncology IRCCS, Milan, Italy.; Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy., Huber LA; Institute of Cell Biology, Biocenter, Medical University of Innsbruck, Innsbruck, Austria.; Austrian Drug Screening Institute (ADSI), Innsbruck, Austria., Ballabio A; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy. ballabio@tigem.it.; Medical Genetics Unit, Department of Medical and Translational Science, Federico II University, Naples, Italy. ballabio@tigem.it.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. ballabio@tigem.it.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA. ballabio@tigem.it.; SSM School for Advanced Studies, Federico II University, Naples, Italy. ballabio@tigem.it.

Publikováno v: Nature [Nature] 2020 Sep; Vol. 585 (7826), pp. 597-602. Date of Electronic Publication: 2020 Jul 01.

Combining high-pressure freezing with pre-embedding immunogold electron microscopy and tomography.

Autor: Hess MW; Division of Histology and Embryology, Medical University of Innsbruck, Innsbruck, Austria., Vogel GF; Division of Histology and Embryology, Medical University of Innsbruck, Innsbruck, Austria.; Division of Cell Biology, Biocenter, Medical University of Innsbruck, Innsbruck, Austria.; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Yordanov TE; Division of Cell Biology, Biocenter, Medical University of Innsbruck, Innsbruck, Austria., Witting B; Division of Histology and Embryology, Medical University of Innsbruck, Innsbruck, Austria., Gutleben K; Division of Histology and Embryology, Medical University of Innsbruck, Innsbruck, Austria., Ebner HL; Division of Histology and Embryology, Medical University of Innsbruck, Innsbruck, Austria., de Araujo MEG; Division of Cell Biology, Biocenter, Medical University of Innsbruck, Innsbruck, Austria., Filipek PA; Division of Cell Biology, Biocenter, Medical University of Innsbruck, Innsbruck, Austria., Huber LA; Division of Cell Biology, Biocenter, Medical University of Innsbruck, Innsbruck, Austria.

Publikováno v: Traffic (Copenhagen, Denmark) [Traffic] 2018 Aug; Vol. 19 (8), pp. 639-649. Date of Electronic Publication: 2018 May 21.