SIRT3 and SIRT5 regulate the enzyme activity and cardiolipin binding of very long-chain acyl-CoA dehydrogenase.

Authors: Verdin, Eric, Zhang, Y, Bharathi, SS, Rardin, MJ, Uppala, R, Gibson, BW, Goetzman, ES

Access URL: https://escholarship.org/uc/item/15m3m6tm

Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency

Authors: Schiff M, Haberberger B, Xia CW, Mohsen AW, Goetzman ES, Wang YD, Uppala R, Zhang YX, Karunanidhi A, Prabhu D, Alharbi H, Prochownik EV, Haack T, Haberle J, Munnich A, Rötig A, Taylor RW, Nicholls RD, Kim JJ, Prokisch H, Vockley J

Contributors: University of Zurich, Schiff, Manuel

Source: Human molecular genetics.-2015
Hum. Mol. Genet. 24, 3238-3247 (2015)

Subject Terms: 0301 basic medicine, 2716 Genetics (clinical), 0303 health sciences, Electron Transport Complex I, Mitochondrial Diseases, Fatty Acids, Mutation, Missense, 610 Medicine & health, Severity of Illness Index, 3. Good health, Mice, 03 medical and health sciences, HEK293 Cells, 1311 Genetics, Acyl-CoA Dehydrogenases, 10036 Medical Clinic, 1312 Molecular Biology, Animals, Humans, Protein Multimerization, Oxidation-Reduction, Genetic Association Studies

File Description: application/pdf; ddv074.pdf - application/pdf

Access URL: https://academic.oup.com/hmg/article-pdf/24/11/3238/14143674/ddv074.pdf
https://pubmed.ncbi.nlm.nih.gov/25721401
https://sonar.ch/global/documents/191626
https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=43518

SIRT3 and SIRT5 regulate the enzyme activity and cardiolipin binding of very long-chain Acyl-CoA dehydrogenase

Authors: Zhang, Y, Bharathi, SS, Rardin, MJ, Uppala, R, Verdin, E, Gibson, BW, Goetzman, ES

File Description: application/pdf; text/plain

Relation: https://d-scholarship.pitt.edu/28495/1/journal.pone.0122297.PDF; https://d-scholarship.pitt.edu/28495/3/licence.txt; Zhang, Y and Bharathi, SS and Rardin, MJ and Uppala, R and Verdin, E and Gibson, BW and Goetzman, ES (2015) SIRT3 and SIRT5 regulate the enzyme activity and cardiolipin binding of very long-chain Acyl-CoA dehydrogenase. PLoS ONE, 10 (3).

Availability: https://d-scholarship.pitt.edu/28495/

Overexpression of Mitochondrial Sirtuins Alters Glycolysis and Mitochondrial Function in HEK293 Cells

Authors: De Moura, MB, Uppala, R, Zhang, Y, Van Houten, B, Goetzman, ES

Source: PLoS One
PLoS ONE, Vol 9, Iss 8, p e106028 (2014)

Subject Terms: 0301 basic medicine, 0303 health sciences, Science, Cell Respiration, Mitochondria, Mitochondrial Proteins, 03 medical and health sciences, Glucose, HEK293 Cells, Oxygen Consumption, Sirtuin 3, Medicine, Humans, Sirtuins, Glycolysis, Research Article

File Description: application/pdf; text/plain

Access URL: https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0106028&type=printable
https://pubmed.ncbi.nlm.nih.gov/25165814
https://doaj.org/article/0da267d9c0154393871644169739e70c

Complex I assembly function and fatty acid oxidation enzyme activity of ACAD 9 both contribute to disease severity in ACAD 9 deficiency

Authors: Schiff M, Haberberger B, Xia CW, Mohsen AW, Goetzman ES, Wang YD, Uppala R, Zhang YX, Karunanidhi A, Prabhu D, Alharbi H, Prochownik EV, Haack T, Haberle J, Munnich A, Rötig A, Taylor RW, Nicholls RD, Kim JJ, Prokisch H, Vockley J

Source: Human Molecular Genetics

Relation: https://eprints.ncl.ac.uk/221995

Availability: https://eprints.ncl.ac.uk/221995

Early Peri-conceptional Alcohol Exposure before Implantation Disrupts Placental Development across Gestation.

Authors: Cortes DRE; Department of Pediatrics, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA.; Department of Bioengineering, Swanson School of Engineering, University of Pittsburgh, Pittsburgh, PA, USA.; Animal Imaging Core, Rangos Research Center at UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA., West D; Department of Pediatrics, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA., Coulson NW; Department of Pediatrics, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA., Hartwick S; Department of Pediatrics, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA.; Animal Imaging Core, Rangos Research Center at UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA., Becker-Szurszewski T; Department of Pediatrics, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA.; Animal Imaging Core, Rangos Research Center at UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA., Stapleton MC; Department of Pediatrics, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA., Saladino GM; Department of Pediatrics, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA., Simmons JL 3rd; Department of Pediatrics, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA., Sferruzzi-Perri AN; Department of Physiology, Development & Neuroscience, University of Cambridge, UK., Kohanbash G; Department of Neurosurgery, University of Pittsburgh, Pittsburgh, PA, USA. Pittsburgh, PA, USA., Sneiderman C; Department of Neurosurgery, University of Pittsburgh, Pittsburgh, PA, USA. Pittsburgh, PA, USA., Chandran U; Department of Bioinformatics, University of Pittsburgh, Pittsburgh, PA, USA., Wang J; Department of Bioinformatics, University of Pittsburgh, Pittsburgh, PA, USA., Cristancho AG; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, PA, USA.; Division of Child Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., McKennan CG; Department of Statistics, University of Pittsburgh, Pittsburgh, PA, USA., Cerqueira DM; Department of Pediatrics, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA., Ho J; Department of Pediatrics, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA., Bharathi S; Department of Pediatrics, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA., Goetzman ES; Department of Pediatrics, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA., Chaillet JR; Department of Obstetrics, Gynecology & Reproductive Sciences, University of Pittsburgh., Christodoulou AG; Department of Radiological Sciences, David Geffen School of Medicine, at UCLA, Los Angeles, CA, USA.; Department of Bioengineering, University of California Los Angeles, Los Angeles, CA, USA., Wu YL; Department of Pediatrics, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA.; Department of Bioengineering, Swanson School of Engineering, University of Pittsburgh, Pittsburgh, PA, USA.; Animal Imaging Core, Rangos Research Center at UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.

Source: Research square [Res Sq] 2026 Aug 14. Date of Electronic Publication: 2026 Aug 14.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101768035 Publication Model: Electronic Cited Medium: Internet ISSN: 2693-5015 (Electronic) Linking ISSN: 26935015 NLM ISO Abbreviation: Res Sq Subsets: PubMed not MEDLINE

Adropin protects against cardiac remodeling and metabolic dysfunction in a male mouse HFpEF model.

Authors: Mushala BAS; Vascular Medicine Institute, University of Pittsburgh, Pittsburgh, PA 15261, U.S.A.; Center for Metabolism and Mitochondrial Medicine, University of Pittsburgh, Pittsburgh, PA 15261, U.S.A.; Division of Cardiology, University of Pittsburgh, Pittsburgh, PA 15261, U.S.A., Stoner MW; Vascular Medicine Institute, University of Pittsburgh, Pittsburgh, PA 15261, U.S.A.; Center for Metabolism and Mitochondrial Medicine, University of Pittsburgh, Pittsburgh, PA 15261, U.S.A.; Division of Cardiology, University of Pittsburgh, Pittsburgh, PA 15261, U.S.A., Sharifi-Sanjani M; Vascular Medicine Institute, University of Pittsburgh, Pittsburgh, PA 15261, U.S.A.; Center for Metabolism and Mitochondrial Medicine, University of Pittsburgh, Pittsburgh, PA 15261, U.S.A.; Division of Cardiology, University of Pittsburgh, Pittsburgh, PA 15261, U.S.A., Manning JR; Vascular Medicine Institute, University of Pittsburgh, Pittsburgh, PA 15261, U.S.A.; Center for Metabolism and Mitochondrial Medicine, University of Pittsburgh, Pittsburgh, PA 15261, U.S.A.; Division of Cardiology, University of Pittsburgh, Pittsburgh, PA 15261, U.S.A., Bugga P; Vascular Medicine Institute, University of Pittsburgh, Pittsburgh, PA 15261, U.S.A.; Center for Metabolism and Mitochondrial Medicine, University of Pittsburgh, Pittsburgh, PA 15261, U.S.A.; Division of Cardiology, University of Pittsburgh, Pittsburgh, PA 15261, U.S.A., Bhattarai N; Vascular Medicine Institute, University of Pittsburgh, Pittsburgh, PA 15261, U.S.A.; Center for Metabolism and Mitochondrial Medicine, University of Pittsburgh, Pittsburgh, PA 15261, U.S.A.; Division of Cardiology, University of Pittsburgh, Pittsburgh, PA 15261, U.S.A., McMahon B; Vascular Medicine Institute, University of Pittsburgh, Pittsburgh, PA 15261, U.S.A., Vandevender A; Center for Metabolism and Mitochondrial Medicine, University of Pittsburgh, Pittsburgh, PA 15261, U.S.A.; Division of Endocrinology and Metabolism, University of Pittsburgh, Pittsburgh, PA 15261, U.S.A., Mullet SJ; Health Sciences Mass Spectrometry Core, University of Pittsburgh, Pittsburgh, PA 15261, U.S.A., Kaufman BA; Vascular Medicine Institute, University of Pittsburgh, Pittsburgh, PA 15261, U.S.A.; Center for Metabolism and Mitochondrial Medicine, University of Pittsburgh, Pittsburgh, PA 15261, U.S.A.; Division of Cardiology, University of Pittsburgh, Pittsburgh, PA 15261, U.S.A., Shiva SS; Vascular Medicine Institute, University of Pittsburgh, Pittsburgh, PA 15261, U.S.A.; Center for Metabolism and Mitochondrial Medicine, University of Pittsburgh, Pittsburgh, PA 15261, U.S.A.; Division of Classical Hematology, Department of Medicine, University of Pittsburgh, Pittsburgh, PA 15261, U.S.A., Zhang C; Department of Pharmacology and Chemical Biology, University of Pittsburgh, Pittsburgh, PA 15261, U.S.A., Goetzman ES; Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA 15261, U.S.A., Chan SY; Vascular Medicine Institute, University of Pittsburgh, Pittsburgh, PA 15261, U.S.A.; Division of Cardiology, University of Pittsburgh, Pittsburgh, PA 15261, U.S.A., Gelhaus SL; Health Sciences Mass Spectrometry Core, University of Pittsburgh, Pittsburgh, PA 15261, U.S.A.; Department of Pharmacology and Chemical Biology, University of Pittsburgh, Pittsburgh, PA 15261, U.S.A., Jurczak MJ; Center for Metabolism and Mitochondrial Medicine, University of Pittsburgh, Pittsburgh, PA 15261, U.S.A.; Division of Endocrinology and Metabolism, University of Pittsburgh, Pittsburgh, PA 15261, U.S.A., Scott I; Vascular Medicine Institute, University of Pittsburgh, Pittsburgh, PA 15261, U.S.A.; Center for Metabolism and Mitochondrial Medicine, University of Pittsburgh, Pittsburgh, PA 15261, U.S.A.; Division of Cardiology, University of Pittsburgh, Pittsburgh, PA 15261, U.S.A.

Source: Clinical science (London, England : 1979) [Clin Sci (Lond)] 2026 Jul 15; Vol. 140 (7), pp. 1399-1414.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Portland Press on behalf of the Medical Research Society and the Biochemical Society Country of Publication: England NLM ID: 7905731 Publication Model: Print Cited Medium: Internet ISSN: 1470-8736 (Electronic) Linking ISSN: 01435221 NLM ISO Abbreviation: Clin Sci (Lond) Subsets: MEDLINE

MeSH Terms: Heart Failure*/physiopathology , Heart Failure*/metabolism , Heart Failure*/drug therapy , Ventricular Remodeling*/drug effects , Intercellular Signaling Peptides and Proteins*/pharmacology , Stroke Volume*/drug effects , Blood Proteins*/pharmacology, Acyl-CoA Dehydrogenase, Long-Chain/metabolism ; Myocardium/metabolism ; Hexosamines/metabolism ; Hexosamines/biosynthesis ; Carnitine/analogs & derivatives ; Carnitine/metabolism ; Myocytes, Cardiac/drug effects ; Myocytes, Cardiac/metabolism ; Animals ; Male ; Disease Models, Animal ; Mice, Inbred C57BL ; Mice

ETI corrector therapy suppresses mitochondrial respiration independently of CFTR mutational status.

Authors: Jha A; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA, 15224, USA., Mishra SK; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA, 15224, USA., Zhang Y; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA, 15224, USA., Bharathi S; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA, 15224, USA., Goetzman ES; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA, 15224, USA. Electronic address: Eric.goetzman@chp.edu.

Source: Biochemical and biophysical research communications [Biochem Biophys Res Commun] 2026 Jul 02; Vol. 820, pp. 153848. Date of Electronic Publication: 2026 Apr 27.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 0372516 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1090-2104 (Electronic) Linking ISSN: 0006291X NLM ISO Abbreviation: Biochem Biophys Res Commun Subsets: MEDLINE

MeSH Terms: Cystic Fibrosis Transmembrane Conductance Regulator*/genetics , Cystic Fibrosis Transmembrane Conductance Regulator*/metabolism , Mitochondria*/metabolism , Mitochondria*/drug effects , Aminophenols*/pharmacology , Quinolones*/pharmacology , Pyrazoles*/pharmacology , Cystic Fibrosis*/drug therapy , Cystic Fibrosis*/genetics , Cystic Fibrosis*/metabolism , Benzodioxoles*/pharmacology , Indoles*/pharmacology , Pyrrolidines*/pharmacology , Oximes*/pharmacology , Pyridines*/pharmacology, Cell Respiration/drug effects ; Epithelial Cells/drug effects ; Epithelial Cells/metabolism ; Adenosine Triphosphate/metabolism ; Animals ; Humans ; Rats ; Mutation ; Drug Combinations ; Cell Line ; Quinolines

In Vivo 4D Oxy-Wavelet MRI as a Non-Invasive Biomarker of Brain Mitochondrial Function across the Lifespan.

Authors: Cortes DRE; Department of Pediatrics, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA.; Department of Bioengineering, Swanson School of Engineering, University of Pittsburgh, Pittsburgh, PA, USA.; Animal Imaging Core, Rangos Research Center at UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA., Hartwick S; Department of Pediatrics, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA.; Animal Imaging Core, Rangos Research Center at UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA., Becker-Szurszewski T; Department of Pediatrics, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA.; Animal Imaging Core, Rangos Research Center at UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA., Schwab KE; Department of Pediatrics, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA.; Animal Imaging Core, Rangos Research Center at UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA., Ruck C; Department of Pediatrics, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA.; Department of Bioengineering, Swanson School of Engineering, University of Pittsburgh, Pittsburgh, PA, USA., Manzoor S; Department of Pediatrics, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA., Coulson NW; Department of Pediatrics, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA., West D; Department of Pediatrics, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA., Stapleton MC; Department of Pediatrics, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA., Wyman S; Department of Pediatrics, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA., Lo CW; Department of Pediatrics, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA., Bharathi S; Department of Pediatrics, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA., Goetzman ES; Department of Pediatrics, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA., Christodoulou AG; Department of Radiological Sciences, David Geffen School of Medicine, at UCLA, Los Angeles, CA, USA.; Department of Bioengineering, University of California Los Angeles, Los Angeles, CA, USA., Wu YL; Department of Pediatrics, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA.; Department of Bioengineering, Swanson School of Engineering, University of Pittsburgh, Pittsburgh, PA, USA.; Animal Imaging Core, Rangos Research Center at UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2026 May 23. Date of Electronic Publication: 2026 May 23.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Reversible dissociation of mitochondrial Complex V balances anabolic and energy-generating needs in cancer.

Authors: Wang H; Division of Hematology/Oncology UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA., Lu J; Division of Hematology/Oncology UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA., Henchy C; Division of Hematology/Oncology UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA., Mullett SJ; Department of Pharmacology and Chemical Biology, The University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.; The University of Pittsburgh Health Sciences Mass Spectrometry Facility, Pittsburgh, PA, USA., Richert AC; Division of Genetic and Genomic Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA., Goetzman ES; Division of Genetic and Genomic Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA., Toksoz A; Division of Hematology/Oncology UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.; Kanuni Sultan Suleiman Training and Research Hospital, Istanbul, Turkey., Hale L; Division of Hematology/Oncology UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.; Brandeis University, Waltham, MA, USA., Wang BB; Division of Hematology/Oncology UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA., Mnatsakanyan N; Deptartment of Cell and Biological Systems, Penn State University, University Park, PA, USA., Prochownik EV; Division of Hematology/Oncology UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.; The Department of Microbiology and Molecular Genetics, The University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.; The Hillman Cancer Center, UPMC, Pittsburgh, PA, USA.; The Pittsburgh Liver Research Center, Pittsburgh, PA, USA.

Source: IScience [iScience] 2026 Feb 02; Vol. 29 (3), pp. 114889. Date of Electronic Publication: 2026 Feb 02 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 101724038 Publication Model: eCollection Cited Medium: Internet ISSN: 2589-0042 (Electronic) Linking ISSN: 25890042 NLM ISO Abbreviation: iScience Subsets: PubMed not MEDLINE

Odd-Chain Dicarboxylic Acid Feeding Produces a Glutaric Aciduria Type 1-Like Metabolic Signature in Mice.

Authors: Richert AC; Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA., Zhang Y; Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA., Bharathi SS; Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA., Hernandez A; Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA., Dodatko T; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Bons J; The Buck Institute for Research on Aging, Novato, California, USA., Roundtree KE; Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA., Stauffer B; Department of Pathology, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Yu C; Department of Pathology, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Schilling B; The Buck Institute for Research on Aging, Novato, California, USA., Houten SM; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Goetzman ES; Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.

Source: FASEB journal : official publication of the Federation of American Societies for Experimental Biology [FASEB J] 2025 Nov 15; Vol. 39 (21), pp. e71215.

Publication Type: Journal Article

Journal Info: Publisher: Federation of American Societies for Experimental Biology Country of Publication: United States NLM ID: 8804484 Publication Model: Print Cited Medium: Internet ISSN: 1530-6860 (Electronic) Linking ISSN: 08926638 NLM ISO Abbreviation: FASEB J Subsets: MEDLINE

MeSH Terms: Amino Acid Metabolism, Inborn Errors*/metabolism , Amino Acid Metabolism, Inborn Errors*/pathology , Glutaryl-CoA Dehydrogenase*/deficiency , Glutaryl-CoA Dehydrogenase*/metabolism , Dicarboxylic Acids*/metabolism , Dicarboxylic Acids*/administration & dosage , Brain Diseases, Metabolic*/metabolism , Brain Diseases, Metabolic*/chemically induced , Brain Diseases, Metabolic*/pathology, Glutarates/metabolism ; Mitochondria/metabolism ; Peroxisomes/metabolism ; Animals ; Mice ; Male ; Mice, Inbred C57BL

SCR Disease Name: Glutaric Acidemia I

Systemic Metabolic Rewiring in a Mouse Model of Left Ventricular Hypertrophy.

Authors: Schmidt AV; Department of Physiology and Biophysics, School of Medicine, Case Western Reserve University, Cleveland, OH 44106, USA., Thambidurai T; Department of Physiology and Biophysics, School of Medicine, Case Western Reserve University, Cleveland, OH 44106, USA., D'Annibale O; Biochemical Genetics Laboratory, Children's Hospital of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.; Section of Clinical and Genetics Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO 80045, USA.; Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA., Bharathi SS; Department of Pediatrics, School of Medicine, University of Pittsburgh, Pittsburgh, PA 15224, USA., Wood T; Biochemical Genetics Laboratory, Children's Hospital of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.; Section of Clinical and Genetics Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO 80045, USA., Goetzman ES; Department of Pediatrics, School of Medicine, University of Pittsburgh, Pittsburgh, PA 15224, USA., Stelzer JE; Department of Physiology and Biophysics, School of Medicine, Case Western Reserve University, Cleveland, OH 44106, USA.

Source: International journal of molecular sciences [Int J Mol Sci] 2025 Oct 17; Vol. 26 (20). Date of Electronic Publication: 2025 Oct 17.

Publication Type: Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

MeSH Terms: Hypertrophy, Left Ventricular*/metabolism , Hypertrophy, Left Ventricular*/pathology , Hypertrophy, Left Ventricular*/genetics, Fatty Acids/metabolism ; Myocardium/metabolism ; Muscle, Skeletal/metabolism ; Mitochondria/metabolism ; Animals ; Mice ; Disease Models, Animal ; Lipid Metabolism ; Male ; Energy Metabolism ; Mice, Inbred C57BL ; Mice, Knockout ; Oxidative Phosphorylation

Oral octanoylcarnitine alleviates exercise intolerance in mouse models of long-chain fatty acid oxidation disorders.

Authors: Solo KJ; Department of Pediatrics, Division of Genetic and Genomic Medicine, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA., Zhang Y; Department of Pediatrics, Division of Genetic and Genomic Medicine, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA., Bharathi SS; Department of Pediatrics, Division of Genetic and Genomic Medicine, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA., Zhang BB; Department of Pediatrics, Division of Genetic and Genomic Medicine, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA., Richert AC; Department of Pediatrics, Division of Genetic and Genomic Medicine, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA., Schmidt AV; Department of Pediatrics, Division of Genetic and Genomic Medicine, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA., Van't Land C; Department of Pediatrics, Division of Genetic and Genomic Medicine, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA., D'Annibale O; Department of Pediatrics, University of Colorado Anschutz Medical Campus/Children's Hospital of Colorado, Aurora, Colorado, USA., Wood TC; Department of Pediatrics, University of Colorado Anschutz Medical Campus/Children's Hospital of Colorado, Aurora, Colorado, USA., Goetzman ES; Department of Pediatrics, Division of Genetic and Genomic Medicine, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.

Source: JCI insight [JCI Insight] 2025 Oct 16; Vol. 10 (22). Date of Electronic Publication: 2025 Oct 16 (Print Publication: 2025).

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: eCollection Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE

MeSH Terms: Carnitine*/analogs & derivatives , Carnitine*/administration & dosage , Carnitine*/pharmacology , Fatty Acids*/metabolism , Lipid Metabolism, Inborn Errors*/drug therapy , Lipid Metabolism, Inborn Errors*/metabolism , Exercise Tolerance*/drug effects, Muscle, Skeletal/metabolism ; Muscle, Skeletal/drug effects ; Carnitine O-Acetyltransferase/metabolism ; Myocardium/metabolism ; Animals ; Mice ; Disease Models, Animal ; Oxidation-Reduction ; Administration, Oral ; Male ; Triglycerides ; Mice, Inbred C57BL

Odd-chain dicarboxylic acid feeding recapitulates the biochemical phenotype of glutaric aciduria type 1 in mice.

Authors: Richert AC, Zhang Y, Bharathi SS, Hernandez A, Dodatko T, Bons J, Stauffer B, Yu C, Schilling B, Houten SM, Goetzman ES

Source: BioRxiv : the preprint server for biology [bioRxiv] 2025 Feb 16. Date of Electronic Publication: 2025 Feb 16.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Vascular Contractility Relies on Integrity of Progranulin Pathway: Insights Into Mitochondrial Function.

Authors: Singh S; Department of Pediatrics at UPMC Children's Hospital of Pittsburgh University of Pittsburgh Pittsburgh PA.; Children's Hospital of Philadelphia (CHOP) Department of Genetics at the University of Pennsylvania School of Medicine Philadelphia PA.; Department of Human Genetics, School of Public Health University of Pittsburgh PA., Bruder A; Department of Pediatrics at UPMC Children's Hospital of Pittsburgh University of Pittsburgh Pittsburgh PA.; Department of Physiology & Cell Biology, School of Medicine University of South Alabama Mobile AL., Costa RM; Department of Pediatrics at UPMC Children's Hospital of Pittsburgh University of Pittsburgh Pittsburgh PA.; Department of Physiology & Cell Biology, School of Medicine University of South Alabama Mobile AL., Alves JV; Department of Pediatrics at UPMC Children's Hospital of Pittsburgh University of Pittsburgh Pittsburgh PA., Bharathi S; Department of Pediatrics at UPMC Children's Hospital of Pittsburgh University of Pittsburgh Pittsburgh PA., Goetzman ES; Department of Pediatrics at UPMC Children's Hospital of Pittsburgh University of Pittsburgh Pittsburgh PA.; Department of Human Genetics, School of Public Health University of Pittsburgh PA.; Genetic and Genomic Medicine Division at UPMC Children's Hospital of Pittsburgh University of Pittsburgh Pittsburgh PA., Bruder-Nascimento T; Department of Pediatrics at UPMC Children's Hospital of Pittsburgh University of Pittsburgh Pittsburgh PA.; Department of Physiology & Cell Biology, School of Medicine University of South Alabama Mobile AL.

Source: Journal of the American Heart Association [J Am Heart Assoc] 2025 Feb 04; Vol. 14 (3), pp. e037640. Date of Electronic Publication: 2025 Feb 03.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101580524 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2047-9980 (Electronic) Linking ISSN: 20479980 NLM ISO Abbreviation: J Am Heart Assoc Subsets: MEDLINE

MeSH Terms: Progranulins*/genetics , Progranulins*/metabolism , Progranulins*/deficiency , Muscle, Smooth, Vascular*/metabolism , Muscle, Smooth, Vascular*/physiopathology , Vasoconstriction*/physiology , Aorta*/metabolism , Aorta*/physiopathology , Myocytes, Smooth Muscle*/metabolism , Mitochondria, Muscle*/metabolism , Mitochondria*/metabolism, Animals ; Male ; Mice, Inbred C57BL ; Female ; Signal Transduction ; Mice, Knockout ; Mice ; Mitochondrial Dynamics ; Mitophagy ; Autophagy

Sirtuin-5 Is Recruited to Hepatic Peroxisomes in Mice Fed Dodecanedioic Acid but Has Little Impact on the Peroxisomal Succinylome.

Authors: Zhang Y; Department of Pediatrics, School of Medicine, University of Pittsburgh, Pittsburgh, PA 15224, USA., Zhang BB; Department of Pediatrics, School of Medicine, University of Pittsburgh, Pittsburgh, PA 15224, USA., Bharathi SS; Department of Pediatrics, School of Medicine, University of Pittsburgh, Pittsburgh, PA 15224, USA., Bons J; The Buck Institute for Research on Aging, Novato, CA 94945, USA., Rose JP; The Buck Institute for Research on Aging, Novato, CA 94945, USA., Shah S; The Buck Institute for Research on Aging, Novato, CA 94945, USA., Dobrowolski SF; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15261, USA., Sims-Lucas S; Department of Pediatrics, School of Medicine, University of Pittsburgh, Pittsburgh, PA 15224, USA., Schilling B; The Buck Institute for Research on Aging, Novato, CA 94945, USA., Goetzman ES; Department of Pediatrics, School of Medicine, University of Pittsburgh, Pittsburgh, PA 15224, USA.

Source: Biomolecules [Biomolecules] 2024 Nov 26; Vol. 14 (12). Date of Electronic Publication: 2024 Nov 26.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101596414 Publication Model: Electronic Cited Medium: Internet ISSN: 2218-273X (Electronic) Linking ISSN: 2218273X NLM ISO Abbreviation: Biomolecules Subsets: MEDLINE

MeSH Terms: Peroxisomes*/metabolism , Liver*/metabolism , Sirtuins*/metabolism , Sirtuins*/genetics , Mice, Knockout*, Dicarboxylic Acids/metabolism ; Acyl Coenzyme A/metabolism ; Fatty Acids/metabolism ; Animals ; Mice ; Oxidation-Reduction ; Male ; Mice, Inbred C57BL

Loss of long-chain acyl-CoA dehydrogenase protects against acute kidney injury.

Authors: Chiba T, Oda A, Zhang Y, Bons J, Bharathi SS, Pfister KE, Zhang BB, Richert AC, Schilling B, Goetzman ES, Sims-Lucas S

Source: BioRxiv : the preprint server for biology [bioRxiv] 2024 Oct 25. Date of Electronic Publication: 2024 Oct 25.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Sirt2 Regulates Liver Metabolism in a Sex-Specific Manner.

Authors: Schmidt AV; Department of Pediatrics, School of Medicine, University of Pittsburgh, Pittsburgh, PA 15224, USA., Bharathi SS; Department of Pediatrics, School of Medicine, University of Pittsburgh, Pittsburgh, PA 15224, USA., Solo KJ; Department of Pediatrics, School of Medicine, University of Pittsburgh, Pittsburgh, PA 15224, USA., Bons J; The Buck Institute for Research on Aging, Novato, CA 94945, USA., Rose JP; The Buck Institute for Research on Aging, Novato, CA 94945, USA., Schilling B; The Buck Institute for Research on Aging, Novato, CA 94945, USA., Goetzman ES; Department of Pediatrics, School of Medicine, University of Pittsburgh, Pittsburgh, PA 15224, USA.

Source: Biomolecules [Biomolecules] 2024 Sep 15; Vol. 14 (9). Date of Electronic Publication: 2024 Sep 15.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101596414 Publication Model: Electronic Cited Medium: Internet ISSN: 2218-273X (Electronic) Linking ISSN: 2218273X NLM ISO Abbreviation: Biomolecules Subsets: MEDLINE

MeSH Terms: Sirtuin 2*/metabolism , Sirtuin 2*/genetics , Liver*/metabolism, Hepatocytes/metabolism ; Glucose/metabolism ; Gluconeogenesis/genetics ; Male ; Animals ; Female ; Mice ; Mice, Knockout ; Acetylation ; Mice, Inbred C57BL ; Sex Characteristics ; Glycolysis ; Sex Factors

The AKT2/SIRT5/TFEB pathway as a potential therapeutic target in non-neovascular AMD.

Authors: Ghosh S; Department of Ophthalmology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Sharma R; Ocular and Stem Cell Translational Research Section, National Eye Institute, National Institutes of Health, Bethesda, MD, USA., Bammidi S; Department of Ophthalmology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Koontz V; Department of Ophthalmology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Nemani M; Department of Ophthalmology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Yazdankhah M; Department of Ophthalmology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Kedziora KM; Department of Cell Biology, Center for Biologic Imaging, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Stolz DB; Department of Cell Biology, Center for Biologic Imaging, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Wallace CT; Department of Cell Biology, Center for Biologic Imaging, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Yu-Wei C; Aging Institute, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Franks J; Department of Cell Biology, Center for Biologic Imaging, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Bose D; Ocular and Stem Cell Translational Research Section, National Eye Institute, National Institutes of Health, Bethesda, MD, USA., Shang P; Doheny Eye Institute, Pasadena, CA, USA., Ambrosino HM; Doheny Eye Institute, Pasadena, CA, USA., Dutton JR; Stem Cell Institute, University of Minnesota, Minneapolis, MN, USA., Geng Z; Stem Cell Institute, University of Minnesota, Minneapolis, MN, USA., Montford J; Ocular and Stem Cell Translational Research Section, National Eye Institute, National Institutes of Health, Bethesda, MD, USA., Ryu J; Ocular and Stem Cell Translational Research Section, National Eye Institute, National Institutes of Health, Bethesda, MD, USA., Rajasundaram D; Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Hose S; Department of Ophthalmology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Sahel JA; Department of Ophthalmology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.; Institut De La Vision, INSERM, CNRS, Sorbonne Université, Paris, France., Puertollano R; Cell Biology and Physiology Center, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA., Finkel T; Aging Institute, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Zigler JS Jr; Wilmer Eye Institute, The Johns Hopkins University School of Medicine, Baltimore, MD, USA., Sergeev Y; Protein Biochemistry & Molecular Modeling Group, National Eye Institute, National Institutes of Health, Bethesda, MD, USA., Watkins SC; Department of Cell Biology, Center for Biologic Imaging, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Goetzman ES; Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Ferrington DA; Doheny Eye Institute, Pasadena, CA, USA.; Department of Ophthalmology, University of California Los Angeles, Los Angeles, CA, USA., Flores-Bellver M; Department of Ophthalmology, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA., Kaarniranta K; Department of Ophthalmology, University of Eastern Finland and Kuopio University Hospital, Kuopio, Finland.; Department of Molecular Genetics, University of Lodz, Lodz, Poland., Sodhi A; Wilmer Eye Institute, The Johns Hopkins University School of Medicine, Baltimore, MD, USA., Bharti K; Ocular and Stem Cell Translational Research Section, National Eye Institute, National Institutes of Health, Bethesda, MD, USA. kapil.bharti@nih.gov., Handa JT; Wilmer Eye Institute, The Johns Hopkins University School of Medicine, Baltimore, MD, USA. jthanda@jhmi.edu., Sinha D; Department of Ophthalmology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA. Debasish@pitt.edu.; Wilmer Eye Institute, The Johns Hopkins University School of Medicine, Baltimore, MD, USA. Debasish@pitt.edu.

Source: Nature communications [Nat Commun] 2024 Jul 21; Vol. 15 (1), pp. 6150. Date of Electronic Publication: 2024 Jul 21.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

MeSH Terms: Basic Helix-Loop-Helix Leucine Zipper Transcription Factors*/metabolism , Basic Helix-Loop-Helix Leucine Zipper Transcription Factors*/genetics , Proto-Oncogene Proteins c-akt*/metabolism , Sirtuins*/metabolism , Sirtuins*/genetics , Macular Degeneration*/metabolism , Macular Degeneration*/pathology , Macular Degeneration*/genetics , Retinal Pigment Epithelium*/metabolism , Retinal Pigment Epithelium*/pathology , Lysosomes*/metabolism , Signal Transduction* , Autophagy*, Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha/metabolism ; Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha/genetics ; Mitochondria/metabolism ; Induced Pluripotent Stem Cells/metabolism ; Animals ; Humans ; Mice ; Mice, Inbred C57BL ; Disease Models, Animal ; Male

Cystic fibrosis-related metabolic defects: crosstalk between ion channels and organs.

Authors: Sims-Lucas S; Department of Pediatrics, and., Goetzman ES; Department of Pediatrics, and., Kleyman TR; Department of Medicine, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.

Source: The Journal of clinical investigation [J Clin Invest] 2024 Jul 01; Vol. 134 (13). Date of Electronic Publication: 2024 Jul 01.

Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S.; Research Support, N.I.H., Extramural

Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

MeSH Terms: Cystic Fibrosis*/metabolism , Cystic Fibrosis*/genetics , Cystic Fibrosis*/pathology , Cystic Fibrosis Transmembrane Conductance Regulator*/metabolism , Cystic Fibrosis Transmembrane Conductance Regulator*/genetics, Animals ; Humans ; Swine ; Disease Models, Animal