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Results: 16
Enhancement Of Tioconazole Ungual Delivery
Fernanda C. Flores, Wing Sin Chiu, Ruy C. R. Beck, Cristiane B. da Silva, Maria Delgado-Charro
Jan 15, 2018
This work investigated the impact of formulation including in vitro release profile, repeated dosing, and nail poration on the ex vivo nail delivery performance of antifungal formulations. Chitosan coated and uncoated...
Inhibition of proteasome rescues a pathogenic variant of respiratory chain assembly factor COA7.
Perturbed Redox Signaling Exacerbates a Mitochondrial Myopathy.
Sukru Anil Dogan, Raffaele Cerutti, Cristiane Benincá, Gloria Brea-Calvo, Howard Trevor Jacobs, Massimo Zeviani, Marten Szibor, Carlo Viscomi
Sep 08, 2018
Alternative oxidases (AOXs) bypass respiratory complexes III and IV by transferring electrons from coenzyme Q directly to O2. They have therefore been proposed as a potential therapeutic tool for mitochondrial diseases. We...
ROS alternative oxidase antioxidant Autophagy mitochondrial biogenesis mitochondrial disease redox signaling satellite cells stress responses Animals Autophagy Female Male Mice Mice Inbred C57BL Mice Knockout Mitochondrial Myopathies Mitochondrial Proteins Muscle Skeletal Organelle Biogenesis Oxidation-Reduction Oxidoreductases Plant Proteins Reactive Oxygen Species Signal Transduction
Rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesis.
Gabriele Civiletto, Sukru Anil Dogan, Raffaele Cerutti, Gigliola Fagiolari, Maurizio Moggio, Costanza Lamperti, Cristiane Benincá, Carlo Viscomi, Massimo Zeviani
Dec 17, 2018
The mTOR inhibitor rapamycin ameliorates the clinical and biochemical phenotype of mouse, worm, and cellular models of mitochondrial disease, via an unclear mechanism. Here, we show that prolonged rapamycin treatment improved...
Autophagy lysosomal biogenesis mTORC1 mitochondrial disease rapamycin Animals Autophagy Basic Helix-Loop-Helix Leucine Zipper Transcription Factors Electron Transport Complex IV Lysosomes Mice Inbred C57BL Mice Knockout Mitochondria Mitochondrial Myopathies Motor Activity Muscles Organelle Biogenesis Phenotype Rilmenidine Sirolimus TOR Serine-Threonine Kinases
Enhancement Of Tioconazole Ungual Delivery
Fernanda C. Flores, Wing Sin Chiu, Ruy C. R. Beck, Cristiane B. da Silva, Maria Delgado-Charro
Jan 15, 2018
This work investigated the impact of formulation including in vitro release profile, repeated dosing, and nail poration on the ex vivo nail delivery performance of antifungal formulations. Chitosan coated and uncoated...
Neurodevelopmental regression, severe generalized dystonia, and metabolic acidosis caused by POLR3A mutations.
Vanessa Zanette, Aurelio Reyes, Mark Johnson, Daniel do Valle, Alan J Robinson, Vaneisse Monteiro, Bruno Augusto Telles, Ricardo L R Souza, Mara L S F Santos, Cristiane Benincá, Massimo Zeviani
Nov 09, 2020
OBJECTIVE: To expand the clinical phenotype of POLR3A mutations by assessing the functional consequences of a missense and a splicing acceptor mutation. METHODS: We performed whole-exome sequencing for identification of likely...
APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS.
Alba Signes, Raffaele Cerutti, Anna S Dickson, Cristiane Benincá, Elizabeth C Hinchy, Daniele Ghezzi, Rosalba Carrozzo, Enrico Bertini, Michael P Murphy, James A Nathan, Carlo Viscomi, Erika Fernandez-Vizarra, Massimo Zeviani
Dec 21, 2018
Loss-of-function mutations in APOPT1, a gene exclusively found in higher eukaryotes, cause a characteristic type of cavitating leukoencephalopathy associated with mitochondrial cytochrome c oxidase (COX) deficiency. Although the...
APOPT1‐COA8 cytochrome c oxidase mitochondrial encephalopathy proteasome–ubiquitin system Reactive Oxygen Species Animals Apoptosis Regulatory Proteins Cells Cultured Electron Transport Complex IV Genetic Complementation Test Humans Mice Mice Knockout Mitochondrial Proteins Protein Multimerization Reactive Oxygen Species Unfolded Protein Response
NDUFV1 mutations in complex I deficiency
Vanessa Zanette, Daniel do Valle, Bruno Augusto Telles, Alan J Robinson, Vaneisse Monteiro, Mara Lucia SF Santos, Ricardo Lehtonen R Souza, Cristiane Benincá
Jan 07, 2022
Mitochondrial complex I (CI) deficiency is the most common oxidative phosphorylation disorder described. It shows a wide range of phenotypes with poor correlation within genotypes. Herein we expand the clinics and genetics of CI...
Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil.
Eduardo de Paula Estephan, Antonio Alberto Zambon, Paulo Eurípedes Marchiori, André Macedo Serafim da Silva, Vitor Marques Caldas, Cristiane Araújo Martins Moreno, Umbertina Conti Reed, Rita Horvath, Ana Töpf, Hanns Lochmüller, Edmar Zanoteli
Jan 09, 2019
Mutations in RAPSN are an important cause of congenital myasthenic syndrome (CMS), leading to endplate acetylcholine receptor deficiency. We present three RAPSN early-onset CMS patients (from a Brazilian cohort of 61 CMS...
Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features.
Cristiane Benincá, Vanessa Zanette, Michele Brischigliaro, Mark Johnson, Aurelio Reyes, Daniel Almeida do Valle, Alan J Robinson, Andrea Degiorgi, Anna Yeates, Bruno Augusto Telles, Julien Prudent, Enrico Baruffini, Mara Lucia S F Santos, Ricardo Lehtonen R de Souza, Erika Fernandez-Vizarra, Alexander J Whitworth, Massimo Zeviani
Aug 12, 2020
BACKGROUND: Mitochondria provide ATP through the process of oxidative phosphorylation, physically located in the inner mitochondrial membrane (IMM). The mitochondrial contact site and organising system (MICOS) complex is known...
Acoustic sequences in non-human animals
Arik Kershenbaum, Daniel T Blumstein, Marie A Roch, Çağlar Akçay, Gregory Backus, Mark A Bee, Kirsten Bohn, Yan Cao, Gerald Carter, Cristiane Cäsar, Michael Coen, Stacy L DeRuiter, Laurance Doyle, Shimon Edelman, Ramon Ferrer-i-Cancho, Todd M Freeberg, Ellen C Garland, Morgan Gustison, Heidi E Harley, Chloé Huetz, Melissa Hughes, Julia Hyland Bruno, Amiyaal Ilany, Dezhe Z Jin, Michael Johnson, Chenghui Ju, Jeremy Karnowski, Bernard Lohr, Marta B Manser, Brenda McCowan, Eduardo Mercado, Peter M Narins, Alex Piel, Megan Rice, Roberta Salmi, Kazutoshi Sasahara, Laela Sayigh, Yu Shiu, Charles Taylor, Edgar E Vallejo, Sara Waller, Veronica Zamora-Gutierrez
Nov 06, 2014
Neural stem cells traffic functional mitochondria via extracellular vesicles.
Luca Peruzzotti-Jametti, Joshua D Bernstock, Cory M Willis, Giulia Manferrari, Rebecca Rogall, Erika Fernandez-Vizarra, James C Williamson, Alice Braga, Aletta Van Den Bosch, Tommaso Leonardi, Grzegorz Krzak, Ágnes Kittel, Cristiane Benincá, Nunzio Vicario, Sisareuth Tan, Carlos Bastos, Iacopo Bicci, Nunzio Iraci, Jayden A Smith, Ben Peacock, Karin H Muller, Paul J Lehner, Edit Iren Buzas, Nuno Faria, Massimo Zeviani, Christian Frezza, Alain Brisson, Nicholas J Matheson, Carlo Viscomi, Stefano Pluchino
May 21, 2021
Neural stem cell (NSC) transplantation induces recovery in animal models of central nervous system (CNS) diseases. Although the replacement of lost endogenous cells was originally proposed as the primary healing mechanism of NSC...
Neural stem cells traffic functional mitochondria via extracellular vesicles
Luca Peruzzotti-Jametti, Joshua D. Bernstock, Cory M. Willis, Giulia Manferrari, Rebecca Rogall, Erika Fernandez-Vizarra, James C. Williamson, Alice Braga, Aletta Van Den Bosch, Tommaso Leonardi, Grzegorz Krzak, Ágnes Kittel, Cristiane Benincá, Nunzio Vicario, Sisareuth Tan, Carlos Bastos, Iacopo Bicci, Nunzio Iraci, Jayden A. Smith, Ben Peacock, Karin H. Muller, Paul J. Lehner, Edit Iren Buzas, Nuno Faria, Massimo Zeviani, Christian Frezza, Alain Brisson, Nicholas J. Matheson, Carlo Viscomi, Stefano Pluchino
Apr 19, 2021
Neural stem cell (NSC) transplantation induces recovery in animal models of central nervous system (CNS) diseases. Although the replacement of lost endogenous cells was originally proposed as the primary healing mechanism of NSC...
Selective Disruption of Mitochondrial Thiol Redox State in Cells and In Vivo.
Lee M Booty, Justyna M Gawel, Filip Cvetko, Stuart T Caldwell, Andrew R Hall, John F Mulvey, Andrew M James, Elizabeth C Hinchy, Tracy A Prime, Sabine Arndt, Cristiane Beninca, Thomas P Bright, Menna R Clatworthy, John R Ferdinand, Hiran A Prag, Angela Logan, Julien Prudent, Thomas Krieg, Richard C Hartley, Michael P Murphy
May 15, 2019
CRISIS AFAR
Bethany Vibert, Patricia Segura, Louise Gallagher, Stelios Georgiades, Panagiota Pervanidou, Audrey Thurm, Lindsay Alexander, Evdokia Anagnostou, Yuta Aoki, Catherine S Birken, Somer L Bishop, Jessica Boi, Carmela Bravaccio, Helena Brentani, Paola Canevini, Alessandra Carta, Alice Charach, Antonella Costantino, Katherine T Cost, Elaine A Cravo, Jennifer Crosbie, Chiara Davico, Federica Donno, Junya Fujino, Alessandra Gabellone, Cristiane T Geyer, Tomoya Hirota, Stephen Kanne, Makiko Kawashima, Elizabeth Kelley, Hosanna Kim, Young Shin Kim, So Hyun Kim, Daphne J Korczak, Meng-Chuan Lai, Lucia Margari, Lucia Marzulli, Gabriele Masi, Luigi Mazzone, Jane McGrath, Suneeta Monga, Paola Morosini, Shinichiro Nakajima, Antonio Narzisi, Rob Nicolson, Aki Nikolaidis, Yoshihiro Noda, Kerri Nowell, Miriam Polizzi, Joana Portolese, Maria Pia Riccio, Manabu Saito, Ida Schwartz, Anish K Simhal, Martina Siracusano, Stefano Sotgiu, Jacob Stroud, Fernando Sumiya, Yoshiyuki Tachibana, Nicole Takahashi, Riina Takahashi, Hiroki Tamon, Raffaella Tancredi, Benedetto Vitiello, Alessandro Zuddas, Bennett Leventhal, Kathleen Merikangas, Michael P Milham, Adriana Di Martino
Feb 17, 2023
BACKGROUND: Heterogeneous mental health outcomes during the COVID-19 pandemic are documented in the general population. Such heterogeneity has not been systematically assessed in youth with autism spectrum disorder (ASD) and...
Autism spectrum disorder behavioral problems Covid-19 pandemic Mental health outcomes Neurodevelopmental conditions PREDICTION Public Health Risk and resilience factors Sleep Female Humans Adolescent Child Mental Health covid-19 Autistic Disorder Pandemics Autism spectrum disorder Cross-Sectional Studies
CRISIS AFAR
Bethany Vibert, Patricia Segura, Louise Gallagher, Stelios Georgiades, Panagiota Pervanidou, Audrey Thurm, Lindsay Alexander, Evdokia Anagnostou, Yuta Aoki, Catherine S Birken, Somer L Bishop, Jessica Boi, Carmela Bravaccio, Helena Brentani, Paola Canevini, Alessandra Carta, Alice Charach, Antonella Costantino, Katherine T Cost, Elaine A Cravo, Jennifer Crosbie, Chiara Davico, Federica Donno, Junya Fujino, Alessandra Gabellone, Cristiane T Geyer, Tomoya Hirota, Stephen Kanne, Makiko Kawashima, Elizabeth Kelley, Hosanna Kim, Young Shin Kim, So Hyun Kim, Daphne J Korczak, Meng-Chuan Lai, Lucia Margari, Lucia Marzulli, Gabriele Masi, Luigi Mazzone, Jane McGrath, Suneeta Monga, Paola Morosini, Shinichiro Nakajima, Antonio Narzisi, Rob Nicolson, Aki Nikolaidis, Yoshihiro Noda, Kerri Nowell, Miriam Polizzi, Joana Portolese, Maria Pia Riccio, Manabu Saito, Ida Schwartz, Anish K Simhal, Martina Siracusano, Stefano Sotgiu, Jacob Stroud, Fernando Sumiya, Yoshiyuki Tachibana, Nicole Takahashi, Riina Takahashi, Hiroki Tamon, Raffaella Tancredi, Benedetto Vitiello, Alessandro Zuddas, Bennett Leventhal, Kathleen Merikangas, Michael P Milham, Adriana Di Martino
Mar 17, 2023
Background
Heterogeneous mental health outcomes during the COVID-19 pandemic are documented in the general population. Such heterogeneity has not been systematically assessed in youth with autism spectrum disorder (ASD)...
PREDICTION Sleep Public Health Autism spectrum disorder behavioral problems Risk and resilience factors Mental health outcomes Neurodevelopmental conditions Covid-19 pandemic Humans Cross-Sectional Studies Mental Health Autistic Disorder Adolescent Child Female Pandemics covid-19
Published by: Molecular autism