Publications by authors named "Michael Woontner"

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Feasibility of newborn screening for pyridoxine-dependent epilepsy.
Kristine Pauly, Michael Woontner, Jose E Abdenur, Bimal P Chaudhari, Rachel Gosselin

Mol Genet Metab· January 2025

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Increased susceptibility to quinolinic acid-induced seizures and long-term changes in brain oscillations in an animal model of glutaric acidemia type I.
Letícia Barbieri Caus, Mayara Vendramin Pasquetti, Bianca Seminotti, Michael Woontner, Moacir Wajner

J Neurosci Res· April 2022

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REVIEW: Practical strategies to maintain anabolism by intravenous nutritional management in children with inborn metabolic diseases.
Kimberly A Kripps, Peter R Baker, Janet A Thomas, Heather E Skillman, Laurie Bernstein, Michael Woontner

Mol Genet Metab· July 2021

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An explanation for metabolite excretion in high- and low-excretor patients with glutaric acidemia type 1.
Stephen I Goodman, Michael Woontner

Mol Genet Metab· August 2019

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Long Lasting High Lysine Diet Aggravates White Matter Injury in Glutaryl-CoA Dehydrogenase Deficient (Gcdh-/-) Mice.
Silvia Olivera-Bravo, Bianca Seminotti, Eugenia Isasi, César A Ribeiro, Guilhian Leipnitz, Michael Woontner

Mol Neurobiol· January 2019

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Maternal obesity and increased neonatal adiposity correspond with altered infant mesenchymal stem cell metabolism.
Peter R Baker, Zachary Patinkin, Allison Lb Shapiro, Becky A De La Houssaye, Michael Woontner

JCI Insight· November 2017

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Impairment of GABAergic system contributes to epileptogenesis in glutaric acidemia type I.
Mayara Vendramin Pasquetti, Letícia Meier, Samanta Loureiro, Marcelo Ganzella, Bernardo Junges, Michael Woontner

Epilepsia· October 2017

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Higher Vulnerability of Menadione-Exposed Cortical Astrocytes of Glutaryl-CoA Dehydrogenase Deficient Mice to Oxidative Stress, Mitochondrial Dysfunction, and Cell Death: Implications for the Neurodegeneration in Glutaric Aciduria Type I.
Marília Danyelle Nunes Rodrigues, Bianca Seminotti, Ângela Zanatta, Aline de Mello Gonçalves, Bruna Bellaver, Michael Woontner

Mol Neurobiol· August 2017

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The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors.
Lori-Anne P Schillaci, Carol L Greene, Erin Strovel, Jessica Rispoli-Joines, Elaine Spector, Michael Woontner

Mol Genet Metab· September 2016

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Experimental evidence that overexpression of NR2B glutamate receptor subunit is associated with brain vacuolation in adult glutaryl-CoA dehydrogenase deficient mice: A potential role for glutamatergic-induced excitotoxicity in GA I neuropathology.
Marília Danyelle Nunes Rodrigues, Bianca Seminotti, Alexandre Umpierrez Amaral, Guilhian Leipnitz, Stephen Irwin Goodman, Michael Woontner

J Neurol Sci· December 2015

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Experimental evidence that bioenergetics disruption is not mainly involved in the brain injury of glutaryl-CoA dehydrogenase deficient mice submitted to lysine overload.
Alexandre Umpierrez Amaral, Cristiane Cecatto, Bianca Seminotti, César Augusto Ribeiro, Valeska Lizzi Lagranha, Michael Woontner

Brain Res· September 2015

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Striatal neuronal death mediated by astrocytes from the Gcdh-/- mouse model of glutaric acidemia type I.
Silvia Olivera-Bravo, César A J Ribeiro, Eugenia Isasi, Emiliano Trías, Guilhian Leipnitz, Michael Woontner

Hum Mol Genet· August 2015

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New Cases of DHTKD1 Mutations in Patients with 2-Ketoadipic Aciduria.
Ashlee R Stiles, Leah Venturoni, Grace Mucci, Naser Elbalalesy, Michael Woontner

JIMD Rep· July 2015

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Increased glutamate receptor and transporter expression in the cerebral cortex and striatum of gcdh-/- mice: possible implications for the neuropathology of glutaric acidemia type I.
Valeska Lizzi Lagranha, Ursula Matte, Talita Giacomet de Carvalho, Bianca Seminotti, Carolina Coffi Pereira, Michael Woontner

PLoS One· February 2015

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Disturbance of the glutamatergic system by glutaric acid in striatum and cerebral cortex of glutaryl-CoA dehydrogenase-deficient knockout mice: possible implications for the neuropathology of glutaric acidemia type I.
Estela Natacha Brandt Busanello, Carolina Gonçalves Fernandes, Rafael Volter Martell, Vannessa Gonçalves Araujo Lobato, Stephen Goodman, Michael Woontner

J Neurol Sci· November 2014

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Acute lysine overload provokes protein oxidative damage and reduction of antioxidant defenses in the brain of infant glutaryl-CoA dehydrogenase deficient mice: a role for oxidative stress in GA I neuropathology.
Bianca Seminotti, Rafael Teixeira Ribeiro, Alexandre Umpierrez Amaral, Mateus Struecker da Rosa, Carolina Coffi Pereira, Michael Woontner

J Neurol Sci· September 2014

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Neurodevelopmental and cognitive behavior of glutaryl-CoA dehydrogenase deficient knockout mice.
Estela Natacha Brandt Busanello, Letícia Pettenuzzo, Paulo Henrique Botton, Pablo Pandolfo, Diogo Onofre Gomes de Souza, Michael Woontner

Life Sci· February 2013

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Disruption of brain redox homeostasis in glutaryl-CoA dehydrogenase deficient mice treated with high dietary lysine supplementation.
Bianca Seminotti, Alexandre Umpierrez Amaral, Mateus Struecker da Rosa, Carolina Gonçalves Fernandes, Guilhian Leipnitz, Michael Woontner

Mol Genet Metab· January 2013

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Reduction of Na+, K+-ATPase activity and expression in cerebral cortex of glutaryl-CoA dehydrogenase deficient mice: a possible mechanism for brain injury in glutaric aciduria type I.
Alexandre Umpierrez Amaral, Bianca Seminotti, Cristiane Cecatto, Carolina Gonçalves Fernandes, Estela Natacha Brandt Busanello, Michael Woontner

Mol Genet Metab· November 2012

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Marked reduction of Na(+), K(+)-ATPase and creatine kinase activities induced by acute lysine administration in glutaryl-CoA dehydrogenase deficient mice.
Alexandre Umpierrez Amaral, Cristiane Cecatto, Bianca Seminotti, Ângela Zanatta, Carolina Gonçalves Fernandes, Michael Woontner

Mol Genet Metab· September 2012

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Induction of oxidative stress in brain of glutaryl-CoA dehydrogenase deficient mice by acute lysine administration.
Bianca Seminotti, Mateus Struecker da Rosa, Carolina Gonçalves Fernandes, Alexandre Umpierrez Amaral, Luisa Macedo Braga, Michael Woontner

Mol Genet Metab· May 2012

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Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.
David M S McHugh, Cynthia A Cameron, Jose E Abdenur, Mahera Abdulrahman, Ona Adair, Michael Woontner

Genet Med· March 2011

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Management of a patient with holocarboxylase synthetase deficiency.
Johan L K Van Hove, Sagi Josefsberg, Cynthia Freehauf, Janet A Thomas, Le Phuc Thuy, Michael Woontner

Mol Genet Metab· December 2008

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Mechanism of age-dependent susceptibility and novel treatment strategy in glutaric acidemia type I.
William J Zinnanti, Jelena Lazovic, Cathy Housman, Kathryn LaNoue, James P O'Callaghan, Michael Woontner

J Clin Invest· November 2007

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Chromatographic analysis of amino and organic acids in physiological fluids to detect inborn errors of metabolism.
Michael Woontner, Stephen I Goodman

Curr Protoc Hum Genet· November 2006

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