Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial

Authors: Amel Karaa, Enrico Bertini, Valerio Carelli, Bruce Cohen, Gregory M. Ennes, Marni J. Falk, Amy Goldstein, Gráinne Gorman, Richard Haas, Michio Hirano, Thomas Klopstock, Mary Kay Koenig, Cornelia Kornblum, Costanza Lamperti, Anna Lehman, Nicola Longo, Maria Judit Molnar, Sumit Parikh, Han Phan, Robert D. S. Pitceathly, Russekk Saneto, Fernando Scaglia, Serenella Servidei, Mark Tarnopolsky, Antonio Toscano, Johan L. K. Van Hove, John Vissing, Jerry Vockley, Jeffrey S. Finman, Anthony Abbruscato, David A. Brown, Alana Sullivan, James A. Shiffer, Michelango Mancuso, on behalf of the MMPOWER-3 Trial Investigators

Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)

Subject Terms: Elamipretide, PMM, Replisome, Mitochondria, MtDNA maintenance, MtDNA multiple deletions, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/9ee65de424ba47d7a85aadc248d7ce12

Body‐Wide Inactivation of the Myc‐Like Mlx Transcription Factor Network Accelerates Aging and Increases the Lifetime Cancer Incidence

Authors: Huabo Wang, Taylor Stevens, Jie Lu, Alexander Roberts, Clinton Van't Land, Radhika Muzumdar, Zhenwei Gong, Jerry Vockley, Edward V. Prochownik

Source: Advanced Science, Vol 11, Iss 34, Pp n/a-n/a (2024)

Subject Terms: glycolysis, mitochondria, reactive oxygen species, TCA cycle, telomeres, Warburg effect, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2198-3844

Access URL: https://doaj.org/article/21d46c4a8a1c4ee19059c58c19da19c0

Metabolic features of treatment-refractory major depressive disorder with suicidal ideation

Authors: Lisa A. Pan, Jane C. Naviaux, Lin Wang, Kefeng Li, Jonathan M. Monk, Sai Sachin Lingampelly, Anna Maria Segreti, Kaitlyn Bloom, Jerry Vockley, Mark A. Tarnopolsky, David N. Finegold, David G. Peters, Robert K. Naviaux

Source: Translational Psychiatry, Vol 13, Iss 1, Pp 1-12 (2023)

Subject Terms: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://doaj.org/toc/2158-3188

Access URL: https://doaj.org/article/68ee96b7a9524fae9d5b610c0a3b414f

Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program

Authors: Cary O. Harding, Nicola Longo, Hope Northrup, Stephanie Sacharow, Rani Singh, Janet A. Thomas, Jerry Vockley, Roberto T. Zori, Kaleigh Bulloch Whitehall, Joshua Lilienstein, Kristin Lindstrom, Drew G. Levy, Shaun Jones, Barbara K. Burton

Source: Molecular Genetics and Metabolism Reports, Vol 39, Iss , Pp 101084- (2024)

Subject Terms: Pegvaliase, PEGylated phenylalanine ammonia lyase, Phenylalanine, Phenylketonuria, PRISM, Recombinant Anabaena variabilis, Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426924000375; https://doaj.org/toc/2214-4269

Access URL: https://doaj.org/article/6fbed4664755487a94a0d9b21a7cacaa

O17: Characterizing pathogenicity of ACADVL variants in very long-chain acyl-CoA dehydrogenase deficiency

Authors: Meena Sethuraman, Erik Koppes, Kaitlyn Scola, Kaitlyn Bloom, Al-Walid Mohsen, Jerry Vockley

Source: Genetics in Medicine Open, Vol 2, Iss , Pp 100873- (2024)

Subject Terms: Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424000190; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/6f9c4f4f1c77463993f8d73625ad267e

P013: A long-term disease monitoring program in patients with long-chain fatty acid oxidation disorders

Authors: Michal Inbar-Feigenberg, Barbara Burton, Amarilis Sanchez-Valle, Jerry Vockley, Anjali Aggarwal, Joel Hetzer, Bridget Reineking, Andrew Grimm

Source: Genetics in Medicine Open, Vol 2, Iss , Pp 100890- (2024)

Subject Terms: Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424000360; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/7494643b153e4bb9a58770c5ad3aed40

P032: Decoding the genetic tapestry of long chain fatty acid oxidation disorders: Unveiling novel insights with a dynamic locus-specific gene database

Authors: Vanessa Rangel Miller, Heather Richbourg, Jerry Vockley, Omid Japalaghi, Moeenaldeen AlSayed, Mark Kiel, Stephanie Monteleone, Peter Baker, II, Sean Daugherty, Aneal Khan, Lawrence Korngut, Deborah Marsden, Ana Morales, Nicole Miller

Source: Genetics in Medicine Open, Vol 2, Iss , Pp 100909- (2024)

Subject Terms: Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424000554; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/c9ad9e85b1844cc888a0a8552e78d684

Glutamine energy substrate anaplerosis increases bone density in the Pahenu2 classical PKU mouse in the absence of phenylalanine restriction

Authors: Steven F. Dobrowolski, Yu Leng Phua, Irina L. Tourkova, Cayla Sudano, Jerry Vockley, Quitterie C. Larrouture, Harry C. Blair

Source: JIMD Reports, Vol 63, Iss 5, Pp 446-452 (2022)

Subject Terms: glutamine, osteopenia, oxidative phosphorylation, Pahenu2, phenylketonuria, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2192-8312

Access URL: https://doaj.org/article/07e8c6faa3d54d05b9e4db6c6780f1ec

Mitochondrial dysfunction associated with TANGO2 deficiency

Authors: Paige Heiman, Al-Walid Mohsen, Anuradha Karunanidhi, Claudette St Croix, Simon Watkins, Erik Koppes, Richard Haas, Jerry Vockley, Lina Ghaloul-Gonzalez

Source: Scientific Reports, Vol 12, Iss 1, Pp 1-11 (2022)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/bbd84a9f628544dc9e3cb0595985fc6f

P041: Real-world major clinical events and healthcare resource use among patients with long-chain fatty acid oxidation disorders in the United States

Authors: Erru Yang, Eliza Kruger, Kathleen Deering, David Yin, Kieran Mace, Noelle Liao, Meghan Tierney, Emily Cibelli, Dan Drozd, Nathan Ross, Peter Herout, Alicia Shillington, Nina Thomas, Deborah Marsden, Amy Kritzer, Jerry Vockley

Source: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100051- (2023)

Subject Terms: Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423000511; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/70de10e7350b47cdb9a70f811597fd10

P039: Retrospective evaluation of amino acid ratios for screening and diagnostic utility for pyruvate dehydrogenase complex deficiency (PDCD) and other mitochondrial disorders (MtDs)

Authors: Anisha Verma, April Lehman, Lorna Cropcho, Danielle Black, Steven Dobrowolski, Jerry Vockley, Jirair Bedoyan

Source: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100049- (2023)

Subject Terms: Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423000493; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/ac0d6564f9684dd38a8a8de528c805bb

P257: A single institution analysis of in-house whole genome sequencing within pediatric and neonatal intensive care units (The PISCES Study)

Authors: Peter Nelson, Cate Walsh Vockley, Georgianne Arnold, Jirair Bedoyan, Amina Kunovac, Lindsey Kelly, Dara Kozak, Alexander Yatsenko, Jennifer Atkinson, Adrian Lee, Daniel Bellissimo, Jerry Vockley, Lina Ghaloul-Gonzalez

Source: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100285- (2023)

Subject Terms: Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423002856; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/36553b7314034c7c880095f365d79d25

ITCH deficiency clinical phenotype expansion and mitochondrial dysfunction

Authors: Rachel Wolfe, Paige Heiman, Olivia D'Annibale, Anuradha Karunanidhi, Alyssa Powers, Marianne Mcguire, Bianca Seminotti, Steven F. Dobrowolski, Miguel Reyes-Múgica, Kathryn S. Torok, Al-Walid Mohsen, Jerry Vockley, Lina Ghaloul-Gonzalez

Source: Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100932- (2022)

Subject Terms: ITCH, Autoimmune disease, Ubiquitination, Apoptosis, E3 ligase, Mitochondrial dysfunction, Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426922000921; https://doaj.org/toc/2214-4269

Access URL: https://doaj.org/article/9763ee3b6cd345f3adadf389b4604dbf

Natural history of propionic acidemia in the Amish population

Authors: Sarah Ehrenberg, Catherine Walsh Vockley, Paige Heiman, Zineb Ammous, Olivia Wenger, Jerry Vockley, Lina Ghaloul-Gonzalez

Source: Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100936- (2022)

Subject Terms: Propionic Acidemia, Amish, Newborn screen, Treatment, Cardiomyopathy, Seizures, Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426922000969; https://doaj.org/toc/2214-4269

Access URL: https://doaj.org/article/46a41536862d448d9beb397b376e26f7

Outcomes and genotype correlations in patients with mitochondrial trifunctional protein or isolated long chain 3-hydroxyacyl-CoA dehydrogenase deficiency enrolled in the IBEM-IS database

Authors: Chelsey Chaehee Lim, Jerry Vockley, Otobo Ujah, Russell S. Kirby, Mathew J. Edick, Susan A. Berry, Georgianne L. Arnold

Source: Molecular Genetics and Metabolism Reports, Vol 32, Iss , Pp 100884- (2022)

Subject Terms: Inborn errors of metabolism, Genetics, Pediatrics, Fatty acid oxidation disorders, LCHAD, TFP, Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426922000441; https://doaj.org/toc/2214-4269

Access URL: https://doaj.org/article/4c7f815751ce417692557d32da80b414

A randomized crossover trial of elamipretide in adults with primary mitochondrial myopathy

Authors: Amel Karaa, Richard Haas, Amy Goldstein, Jerry Vockley, Bruce H. Cohen

Source: Journal of Cachexia, Sarcopenia and Muscle, Vol 11, Iss 4, Pp 909-918 (2020)

Subject Terms: Myopathy, Primary mitochondrial disease, Elamipretide, Exercise intolerance, Primary mitochondrial myopathy, Crossover trial, Diseases of the musculoskeletal system, RC925-935, Human anatomy, QM1-695

File Description: electronic resource

Relation: https://doaj.org/toc/2190-5991; https://doaj.org/toc/2190-6009

Access URL: https://doaj.org/article/4e3c7d9d0ebc4d80bc122ad1421fdd2d

Domino liver transplant from a donor with maple syrup urine disease into a recipient with phenylketonuria

Authors: Vikram K. Raghu, Steven F. Dobrowolski, Rakesh Sindhi, Kevin A. Strauss, George V. Mazariegos, Jerry Vockley, Kyle Soltys

Source: Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100866- (2022)

Subject Terms: Classical phenylketonuria (PKU), Maternal PKU, Maple syrup urine disease, Domino liver transplantation, Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S221442692200026X; https://doaj.org/toc/2214-4269

Access URL: https://doaj.org/article/2bf363ef50404c388650e2ff2becc09c

Myelin Disruption, Neuroinflammation, and Oxidative Stress Induced by Sulfite in the Striatum of Rats Are Mitigated by the pan-PPAR agonist Bezafibrate

Authors: Nícolas Manzke Glänzel, Belisa Parmeggiani, Mateus Grings, Bianca Seminotti, Morgana Brondani, Larissa D. Bobermin, César A. J. Ribeiro, André Quincozes-Santos, Jerry Vockley, Guilhian Leipnitz

Source: Cells, Vol 12, Iss 12, p 1557 (2023)

Subject Terms: sulfite, myelin, neuroinflammation, oxidative stress, bezafibrate, striatum, Cytology, QH573-671

File Description: electronic resource

Relation: https://www.mdpi.com/2073-4409/12/12/1557; https://doaj.org/toc/2073-4409

Access URL: https://doaj.org/article/ffe6e30328024464a374427db0517c37

Mitochondrial ROS Triggers KIN Pathogenesis in FAN1-Deficient Kidneys

Authors: Merlin Airik, Haley Arbore, Elizabeth Childs, Amy B. Huynh, Yu Leng Phua, Chi Wei Chen, Katherine Aird, Sivakama Bharathi, Bob Zhang, Peter Conlon, Stanislav Kmoch, Kendrah Kidd, Anthony J. Bleyer, Jerry Vockley, Eric Goetzman, Peter Wipf, Rannar Airik

Source: Antioxidants, Vol 12, Iss 4, p 900 (2023)

Subject Terms: FAN1, karyomegalic interstitial nephritis, DNA damage, oxidative stress, chronic kidney disease, Therapeutics. Pharmacology, RM1-950

File Description: electronic resource

Relation: https://www.mdpi.com/2076-3921/12/4/900; https://doaj.org/toc/2076-3921

Access URL: https://doaj.org/article/01c4c87ed3824b83910fa46b1feaca0b

Molecular mechanism of interactions between ACAD9 and binding partners in mitochondrial respiratory complex I assembly

Authors: Chuanwu Xia, Baoying Lou, Zhuji Fu, Al-Walid Mohsen, Anna L. Shen, Jerry Vockley, Jung-Ja P. Kim

Source: iScience, Vol 24, Iss 10, Pp 103153- (2021)

Subject Terms: Biological sciences, Molecular biology, Structural biology, Science

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2589004221011214; https://doaj.org/toc/2589-0042

Access URL: https://doaj.org/article/9461e48e071d486eaf8a2d268bf1c0d2