المؤلفون: Saffari A; Division of Child Neurology and Metabolic Medicine, Center for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Brösse I; Division of Child Neurology and Metabolic Medicine, Center for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Wiemer-Kruel A; Clinic for Children and Adolescents, Epilepsy Centre Kork, Kehl-Kork, Germany., Wilken B; Department of Pediatric Neurology, Kassel Hospital, Kassel, Germany., Kreuzaler P; Department of Child Neurology, University Hospital, Gießen, Germany., Hahn A; Department of Child Neurology, University Hospital, Gießen, Germany., Bernhard MK; Department of Neuropediatrics, University Hospital of Children, Leipzig, Germany., van Tilburg CM; Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.; Clinical Cooperation Unit Pediatric Oncology, German Cancer Research Center (DKFZ) and German Consortium for Translational Cancer Research (DKTK), Heidelberg, Germany.; KiTZ Clinical Trial Unit (ZIPO), Department of Pediatric Hematology and Oncology, Heidelberg University Hospital, Heidelberg, Germany., Hoffmann GF; Division of Child Neurology and Metabolic Medicine, Center for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Gorenflo M; Department for Congenital Heart Defects/Paediatric Cardiology, Heidelberg University Hospital, Heidelberg, Germany., Hethey S; Auf der Bult - Center for Children and Adolescents, Hannover, Germany., Kaiser O; Department of Paediatrics I, Paediatric Neurology, University Hospital Essen, University of Duisburg-Essen, Essen, Germany., Kölker S; Division of Child Neurology and Metabolic Medicine, Center for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Wagner R; Department of Pediatric Cardiology, University of Leipzig, Heart Center, Leipzig, Germany., Witt O; Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.; Clinical Cooperation Unit Pediatric Oncology, German Cancer Research Center (DKFZ) and German Consortium for Translational Cancer Research (DKTK), Heidelberg, Germany.; KiTZ Clinical Trial Unit (ZIPO), Department of Pediatric Hematology and Oncology, Heidelberg University Hospital, Heidelberg, Germany., Merkenschlager A; Department of Neuropediatrics, University Hospital of Children, Leipzig, Germany., Möckel A; Sana Kliniken Leipziger Land, Borna, Germany., Roser T; Department of Paediatric Neurology and Developmental Medicine, Hauner Children's Hospital, University of Munich, Munich, Germany., Schlump JU; Division for Children and Adolescents, Evangelical Hospital Oberhausen, Oberhausen, Germany., Serfling A; Sana Kliniken Leipziger Land, Borna, Germany., Spiegler J; Department of Pediatrics, University Medical Center Schleswig-Holstein, Campus Lübeck, Germany., Milde T; Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.; Clinical Cooperation Unit Pediatric Oncology, German Cancer Research Center (DKFZ) and German Consortium for Translational Cancer Research (DKTK), Heidelberg, Germany.; KiTZ Clinical Trial Unit (ZIPO), Department of Pediatric Hematology and Oncology, Heidelberg University Hospital, Heidelberg, Germany., Ziegler A; Division of Child Neurology and Metabolic Medicine, Center for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Syrbe S; Division of Child Neurology and Metabolic Medicine, Center for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany. steffen.syrbe@med.uni-heidelberg.de.

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2019 May 03; Vol. 14 (1), pp. 96. Date of Electronic Publication: 2019 May 03.

نوع المنشور: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

مواضيع طبية MeSH: TOR Serine-Threonine Kinases/*antagonists & inhibitors , Tuberous Sclerosis/*drug therapy, Autism Spectrum Disorder/drug therapy ; Child ; Child, Preschool ; Cholesterol/blood ; Cholinesterases/blood ; Epilepsy/drug therapy ; Everolimus/therapeutic use ; Female ; Humans ; Immunosuppressive Agents/therapeutic use ; Infant ; Infant, Newborn ; Male ; Multicenter Studies as Topic ; Phosphates/blood ; Retrospective Studies ; Triglycerides/blood

المؤلفون: Lam HC; Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts., Baglini CV; Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts., Lope AL; Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts., Parkhitko AA; Department of Genetics, Harvard Medical School, Boston, Massachusetts., Liu HJ; Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts., Alesi N; Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts., Malinowska IA; Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts., Ebrahimi-Fakhari D; F.M. Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts., Saffari A; F.M. Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts., Yu JJ; Pulmonary Critical Care and Sleep Medicine, University of Cincinnati College of Medicine, Cincinnati, Ohio., Pereira A; Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts., Khabibullin D; Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts., Ogorek B; Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts., Nijmeh J; Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts., Kavanagh T; Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts., Handen A; Division of Cardiology, Department of Medicine, Center for Pulmonary Vascular Biology and Medicine, Pittsburgh Heart, Lung, Blood, and Vascular Medicine Institute, University of Pittsburgh School of Medicine and University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania., Chan SY; Division of Cardiology, Department of Medicine, Center for Pulmonary Vascular Biology and Medicine, Pittsburgh Heart, Lung, Blood, and Vascular Medicine Institute, University of Pittsburgh School of Medicine and University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania., Asara JM; Division of Signal Transduction, Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts., Oldham WM; Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts., Diaz-Meco MT; Cancer Metabolism and Signaling Networks Program, Sanford-Burnham-Prebys Medical Discovery Institute, La Jolla, California., Moscat J; Cancer Metabolism and Signaling Networks Program, Sanford-Burnham-Prebys Medical Discovery Institute, La Jolla, California., Sahin M; F.M. Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts., Priolo C; Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts., Henske EP; Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts. ehenske@partners.org.

المصدر: Cancer research [Cancer Res] 2017 Jun 15; Vol. 77 (12), pp. 3255-3267. Date of Electronic Publication: 2017 May 16.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Association for Cancer Research Country of Publication: United States NLM ID: 2984705R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1538-7445 (Electronic) Linking ISSN: 00085472 NLM ISO Abbreviation: Cancer Res Subsets: MEDLINE

مواضيع طبية MeSH: Carcinogenesis/*metabolism , Mitochondria/*pathology , Multiprotein Complexes/*metabolism , Sequestosome-1 Protein/*metabolism , TOR Serine-Threonine Kinases/*metabolism , Tuberous Sclerosis/*metabolism, Animals ; Carcinogenesis/pathology ; Disease Models, Animal ; Fluorescent Antibody Technique ; Glutathione/biosynthesis ; Immunohistochemistry ; Kidney Neoplasms/metabolism ; Kidney Neoplasms/pathology ; Mechanistic Target of Rapamycin Complex 1 ; Mice ; Mice, Knockout ; Tuberous Sclerosis/pathology ; Tuberous Sclerosis Complex 2 Protein ; Tumor Suppressor Proteins/metabolism

المؤلفون: Ebrahimi-Fakhari D; a The F.M. Kirby Neurobiology Center , Department of Neurology , Boston Children's Hospital, Harvard Medical School , Boston , MA , USA.; b Division of Pediatric Neurology and Metabolic Medicine , Center for Child and Adolescent Medicine, University Hospital Heidelberg , Heidelberg , Germany., Saffari A; a The F.M. Kirby Neurobiology Center , Department of Neurology , Boston Children's Hospital, Harvard Medical School , Boston , MA , USA.; b Division of Pediatric Neurology and Metabolic Medicine , Center for Child and Adolescent Medicine, University Hospital Heidelberg , Heidelberg , Germany., Wahlster L; b Division of Pediatric Neurology and Metabolic Medicine , Center for Child and Adolescent Medicine, University Hospital Heidelberg , Heidelberg , Germany.; c Division of Hematology and Oncology , Stem Cell Program, Boston Children's Hospital, Harvard Medical School , Boston , MA , USA., Sahin M; a The F.M. Kirby Neurobiology Center , Department of Neurology , Boston Children's Hospital, Harvard Medical School , Boston , MA , USA.

المصدر: Autophagy [Autophagy] 2017 Apr 03; Vol. 13 (4), pp. 754-756. Date of Electronic Publication: 2017 Jan 25.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Taylor & Francis Country of Publication: United States NLM ID: 101265188 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1554-8635 (Electronic) Linking ISSN: 15548627 NLM ISO Abbreviation: Autophagy Subsets: MEDLINE

مواضيع طبية MeSH: Mitochondrial Dynamics* , Mitophagy* , Signal Transduction*, Mechanistic Target of Rapamycin Complex 1/*metabolism , Neurons/*metabolism , Tuberous Sclerosis/*metabolism, Animals ; Humans ; Models, Biological

المؤلفون: Ercan E; Department of Neurology, F.M. Kirby Center for Neurobiology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115., Han JM; Department of Neurology, F.M. Kirby Center for Neurobiology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115., Di Nardo A; Department of Neurology, F.M. Kirby Center for Neurobiology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115., Winden K; Department of Neurology, F.M. Kirby Center for Neurobiology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115., Han MJ; Department of Neurology, F.M. Kirby Center for Neurobiology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115.; Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115., Hoyo L; Department of Neurology, F.M. Kirby Center for Neurobiology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115.; Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115., Saffari A; Department of Neurology, F.M. Kirby Center for Neurobiology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115., Leask A; Department of Dentistry, Schulich School of Medicine and Dentistry, London, Ontario N6A 5C1, Canada.; Department of Physiology and Pharmacology, Schulich School of Medicine and Dentistry, London, Ontario N6A 5C1, Canada., Geschwind DH; Department of Neurology, University of California, Los Angeles School of Medicine, Los Angeles, CA 90095.; Semel Institute, University of California, Los Angeles School of Medicine, Los Angeles, CA 90095.; Department of Human Genetics, University of California, Los Angeles School of Medicine, Los Angeles, CA 90095., Sahin M; Department of Neurology, F.M. Kirby Center for Neurobiology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115 mustafa.sahin@childrens.harvard.edu.; Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115.

المصدر: The Journal of experimental medicine [J Exp Med] 2017 Mar 06; Vol. 214 (3), pp. 681-697. Date of Electronic Publication: 2017 Feb 09.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Rockefeller University Press Country of Publication: United States NLM ID: 2985109R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1540-9538 (Electronic) Linking ISSN: 00221007 NLM ISO Abbreviation: J Exp Med Subsets: MEDLINE

مواضيع طبية MeSH: Connective Tissue Growth Factor/*physiology , Myelin Sheath/*physiology , Neurons/*physiology , Tuberous Sclerosis/*physiopathology, Animals ; Disease Models, Animal ; Mice ; Mice, Inbred C57BL ; Mice, Inbred CBA ; Oligodendroglia/physiology ; Rats ; TOR Serine-Threonine Kinases/physiology ; Tuberous Sclerosis Complex 1 Protein ; Tuberous Sclerosis Complex 2 Protein ; Tumor Suppressor Proteins/physiology

المؤلفون: Ebrahimi-Fakhari D; The F.M. Kirby Neurobiology Center, Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Division of Pediatric Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Saffari A; The F.M. Kirby Neurobiology Center, Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Division of Pediatric Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Wahlster L; Division of Pediatric Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany; Division of Hematology and Oncology, Stem Cell Program, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Di Nardo A; The F.M. Kirby Neurobiology Center, Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Turner D; The F.M. Kirby Neurobiology Center, Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Lewis TL Jr; Department of Neuroscience, Zuckerman Mind Brain Behavior Institute and Kavli Institute for Brain Science, Columbia University, New York, NY 10027, USA., Conrad C; LAM Therapeutics, Guilford, CT 06437, USA., Rothberg JM; LAM Therapeutics, Guilford, CT 06437, USA., Lipton JO; The F.M. Kirby Neurobiology Center, Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Kölker S; Division of Pediatric Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Hoffmann GF; Division of Pediatric Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Han MJ; The F.M. Kirby Neurobiology Center, Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Polleux F; Department of Neuroscience, Zuckerman Mind Brain Behavior Institute and Kavli Institute for Brain Science, Columbia University, New York, NY 10027, USA., Sahin M; The F.M. Kirby Neurobiology Center, Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address: mustafa.sahin@childrens.harvard.edu.

المصدر: Cell reports [Cell Rep] 2016 Oct 18; Vol. 17 (4), pp. 1053-1070.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 101573691 Publication Model: Print Cited Medium: Internet ISSN: 2211-1247 (Electronic) NLM ISO Abbreviation: Cell Rep Subsets: MEDLINE

مواضيع طبية MeSH: Mitochondrial Dynamics* , Mitophagy* , Models, Biological*, Neurons/*metabolism , Neurons/*pathology , Tuberous Sclerosis/*metabolism , Tuberous Sclerosis/*pathology, Animals ; Autophagy ; Axons/metabolism ; Cell Respiration ; Humans ; Lysosomes/metabolism ; Membrane Potential, Mitochondrial ; Mice ; Mutation/genetics ; Pluripotent Stem Cells/metabolism ; Presynaptic Terminals/metabolism ; TOR Serine-Threonine Kinases/metabolism ; Tuberous Sclerosis Complex 2 Protein ; Tumor Suppressor Proteins/metabolism

المؤلفون: Saffari, Afshin, Brösse, Ines, Wiemer-Kruel, Adelheid, Wilken, Bernd, Kreuzaler, Paula, Hahn, Andreas, Bernhard, Matthias, van Tilburg, Cornelis, Hoffmann, Georg Friedrich, Gorenflo, Matthias, Hethey, Sven, Kaiser, Olaf, Kölker, Stefan, Wagner, Robert, Witt, Olaf, Merkenschlager, Andreas, Möckel, Andreas, Roser, Timo, Schlump, Jan-Ulrich, Serfling, Antje

المصدر: Neuropediatrics; 2019 Supplement2, Vol. 50, pS1-S55, 55p

مصطلحات موضوعية: TUBEROUS sclerosis, EVEROLIMUS, MTOR inhibitors