Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function.

Autor: Carpentieri G; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy., Cecchetti S; Confocal Microscopy Unit, Core Facilities, Istituto Superiore di Sanità, 00161 Rome, Italy., Bocchinfuso G; Department of Chemical Science and Technologies, University of Rome Tor Vergata, 00133 Rome, Italy., Radio FC; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Leoni C; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome 00168, Italy., Onesimo R; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome 00168, Italy., Calligari P; Department of Chemical Science and Technologies, University of Rome Tor Vergata, 00133 Rome, Italy., Pietrantoni A; Electron Microscopy Unit, Core Facilities, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy., Ciolfi A; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Ferilli M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Calderan C; Department of Women and Children's Health, University of Padua, Fondazione Istituto di Ricerca Pediatrica Città della Speranza, 35127 Padua, Italy., Cappuccio G; Department of Translational Medicine, 'Federico II' University, 80131 Naples, Italy., Martinelli S; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy., Messina E; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Caputo V; Department of Experimental Medicine, Sapienza University of Rome, 00185 Rome, Italy., Hüffmeier U; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., Mignot C; Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique-Hopitaux de Paris, Sorbonne University, Paris, France., Auvin S; Service de Neurologie Pediatrique, Hopital Universitaire Robert Debré, Université Paris Cité, 75935 Paris, France., Capri Y; Department of Genetics, Robert-Debré University Hospital, Assistance Publique-Hopitaux de Paris, 75935 Paris, France., Lourenco CM; Faculdade de Medicina, Centro Universitario Estácio de Ribeirão Preto, Ribeirão Preto 14096-160, São Paulo, Brazil., Russell BE; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Neustad A; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Brunetti Pierri N; Department of Translational Medicine, 'Federico II' University, 80131 Naples, Italy; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Scuola Superiore Meridionale, Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy., Keren B; Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique-Hopitaux de Paris, Sorbonne University, Paris, France., Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., Cohen JS; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA., Heidlebaugh A; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, USA., Smith C; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA., Thiel CT; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg FAU, 91054 Erlangen, Germany., Salviati L; Department of Women and Children's Health, University of Padua, Fondazione Istituto di Ricerca Pediatrica Città della Speranza, 35127 Padua, Italy., Zampino G; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome 00168, Italy; Facoltà di Medicina e Chirurgia, Università Cattolica del S. Cuore, 00168 Rome, Italy., Campeau PM; Department of Pediatrics, Université de Montréal, Montréal, QC, Canada., Stella L; Department of Chemical Science and Technologies, University of Rome Tor Vergata, 00133 Rome, Italy., Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy. Electronic address: marco.tartaglia@opbg.net., Flex E; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy. Electronic address: elisabetta.flex@iss.it.

Publikováno v: HGG advances [HGG Adv] 2024 Oct 10; Vol. 5 (4), pp. 100349. Date of Electronic Publication: 2024 Aug 29.

New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ 10 deficiency in muscle or skin fibroblasts.

Autor: Mero S; IRCCS Fondazione Stella Maris, Pisa, Italy.; Department of Biology, University of Pisa, Pisa, Italy., Salviati L; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padua, Padua, Italy.; Istituto Di Ricerca Pediatrica (IRP) Città della Speranza, Padua, Italy., Leuzzi V; Child Neurology, Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy., Rubegni A; IRCCS Fondazione Stella Maris, Pisa, Italy., Calderan C; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padua, Padua, Italy.; Istituto Di Ricerca Pediatrica (IRP) Città della Speranza, Padua, Italy., Nardecchia F; Child Neurology, Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy., Galatolo D; IRCCS Fondazione Stella Maris, Pisa, Italy., Desbats MA; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padua, Padua, Italy.; Istituto Di Ricerca Pediatrica (IRP) Città della Speranza, Padua, Italy., Naef V; IRCCS Fondazione Stella Maris, Pisa, Italy., Gemignani F; Department of Biology, University of Pisa, Pisa, Italy., Novelli M; Child Neurology, Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy., Tessa A; IRCCS Fondazione Stella Maris, Pisa, Italy., Battini R; IRCCS Fondazione Stella Maris, Pisa, Italy., Santorelli FM; IRCCS Fondazione Stella Maris, Pisa, Italy. filippo3364@gmail.com., Marchese M; IRCCS Fondazione Stella Maris, Pisa, Italy. maria.marchese2086@gmail.com.

Publikováno v: Journal of neurology [J Neurol] 2021 Sep; Vol. 268 (9), pp. 3381-3389. Date of Electronic Publication: 2021 Mar 11.

Early and prolonged ECG alterations resembling a myocardial injury after severe amitriptyline poisoning

Autor: Berlot, G, Vergolini, A, Calderan, C

Publikováno v: HSR Proceedings in Intensive Care & Cardiovascular Anesthesia

Evidence of cardiovascular toxicity is present in the majority of tricyclic antidepressant overdoses. We report the case of a 63-year-old woman admitted to our department with a severe amitriptyline poisoning. The ECG at admission showed a pattern mi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::20190e3eb8d1c2183666038eca8bb7dd
http://europepmc.org/articles/PMC3484585

The multiple roles of coenzyme Q in cellular homeostasis and their relevance for the pathogenesis of coenzyme Q deficiency.

Autor: Baschiera E; Clinical Genetics Unit, Department of Women and Children's Health, University of Padova and IPR Città Della Speranza, Padova, Italy., Sorrentino U; Clinical Genetics Unit, Department of Women and Children's Health, University of Padova and IPR Città Della Speranza, Padova, Italy., Calderan C; Clinical Genetics Unit, Department of Women and Children's Health, University of Padova and IPR Città Della Speranza, Padova, Italy., Desbats MA; Clinical Genetics Unit, Department of Women and Children's Health, University of Padova and IPR Città Della Speranza, Padova, Italy., Salviati L; Clinical Genetics Unit, Department of Women and Children's Health, University of Padova and IPR Città Della Speranza, Padova, Italy. Electronic address: leonardo.salviati@unipd.it.

Publikováno v: Free radical biology & medicine [Free Radic Biol Med] 2021 Apr; Vol. 166, pp. 277-286. Date of Electronic Publication: 2021 Mar 03.

Ferroptosis in Ischemic Stroke and Related Traditional Chinese Medicines.

Autor: Ma, Runchen¹ (AUTHOR) celtics5920@163.com, Sun, Xiaohui¹ (AUTHOR), Liu, Zhaofeng¹ (AUTHOR), Zhang, Jianzhao¹ (AUTHOR), Yang, Gangqiang¹ (AUTHOR), Tian, Jingwei¹ (AUTHOR), Wang, Yunjie¹ (AUTHOR) yjwcpu@163.com

Publikováno v: Molecules. Sep2024, Vol. 29 Issue 18, p4359. 22p.