Topic · Metabolism and Genetic Disorders
Most cited papers in Metabolism and Genetic Disorders
What are the most cited papers in Metabolism and Genetic Disorders?
The most cited paper in Metabolism and Genetic Disorders is "Estimation of the number of nucleotide substitutions in the control region of mitochondrial DNA in humans and chimpanzees." (Koichiro Tamura, M Nei, 1993), with 11,497 citations. Next come "Estimation of total, protein-bound, and nonprotein sulfhydryl groups in tissue with Ellman's reagent" (8,107) and "Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases" (6,522).
Showing 50 of 99 papers. Every paper with more than 1,278 citations is listed.
| # | Paper | ||
|---|---|---|---|
| 1 | Estimation of the number of nucleotide substitutions in the control region of mitochondrial DNA in humans and chimpanzees. Koichiro Tamura, M Nei · Molecular Biology and Evolution | May 1993 | 11,497 |
| 2 | Estimation of total, protein-bound, and nonprotein sulfhydryl groups in tissue with Ellman's reagent Jozef Sedlak, Raymond H. Lindsay · Analytical Biochemistry | 1968 | 8,107 |
| 3 | Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases Michael T. S. Lin, M. Flint Beal · Nature | Oct 2006 | 6,522 |
| 4 | The Thiobarbituric Acid Assay of Sialic Acids Leonard Warren · Journal of Biological Chemistry | Aug 1959 | 6,453 |
| 5 | ILAE Official Report: A practical clinical definition of epilepsy Robert S. Fisher, Carlos Alberto Acevedo, Alexis A. Arzimanoglou et al. · Epilepsia | Apr 2014 | 6,110 |
| 6 | Glutamate uptake Niels Christian Danbolt · Progress in Neurobiology | Sep 2001 | 4,090 |
| 7 | Mitochondrial Fission, Fusion, and Stress Richard J. Youle, Alexander M. van der Bliek · Science | 30 Aug 2012 | 3,720 |
| 8 | Mitochondria: In Sickness and in Health Jodi M. Nunnari, Anu Suomalainen · Cell | Mar 2012 | 3,549 |
| 9 | Robbins and Cotran Pathologic Basis of Disease Syed A. Hoda, Raza S. Hoda · American Journal of Clinical Pathology | 13 Aug 2020 | 3,387 |
| 10 | A Mitochondrial Paradigm of Metabolic and Degenerative Diseases, Aging, and Cancer: A Dawn for Evolutionary Medicine Douglas C. Wallace · Annual Review of Genetics | 19 Jul 2005 | 3,201 |
| 11 | Mitochondrial Diseases in Man and Mouse Douglas C. Wallace · Science | 5 Mar 1999 | 3,076 |
| 12 | Creatine and Creatinine Metabolism Markus Wyss, Rima F Kaddurah-Daouk · Physiological Reviews | Jul 2000 | 2,964 |
| 13 | Peroxisome Proliferator-Activated Receptors: Nuclear Control of Metabolism* Béatrice Desvergne, Walter Wahli · Endocrine Reviews | Oct 1999 | 2,903 |
| 14 | A RAPID AND PRECISE METHOD FOR THE DETERMINATION OF UREA Janet Fawcett, John E. Scott · Journal of Clinical Pathology | Mar 1960 | 2,803 |
| 15 | Premature ageing in mice expressing defective mitochondrial DNA polymerase Aleksandra Trifunović, Anna Wredenberg, Maria Falkenberg et al. · Nature | May 2004 | 2,779 |
| 16 | Surgical Treatment of the Epilepsies Prakash Kotagal · Journal of Clinical Neurophysiology | Jul 1994 | 2,759 |
| 17 | Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development Hsiuchen Chen, Scott A. Detmer, Andrew J. Ewald et al. · The Journal of Cell Biology | 13 Jan 2003 | 2,628 |
| 18 | Calcium, ATP, and ROS: a mitochondrial love-hate triangle Paul S. Brookes, Yisang Yoon, James L. Robotham et al. · American Journal of Physiology-Cell Physiology | 8 Sep 2004 | 2,606 |
| 19 | Assessing mitochondrial dysfunction in cells Martin D. Brand, David G. Nicholls · Biochemical Journal | 29 Mar 2011 | 2,457 |
| 20 | Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic Neuropathy Douglas C. Wallace, Gurparkash Singh, Marie T. Lott et al. · Science | 9 Dec 1988 | 2,456 |
| 21 | The mitochondrial permeability transition Mario Zoratti, Ildikò Szabó · Biochimica et Biophysica Acta (BBA) - Reviews on Biomembranes | Jul 1995 | 2,419 |
| 22 | One-Carbon Metabolism in Health and Disease Gregory S. Ducker, Joshua D. Rabinowitz · Cell Metabolism | 15 Sep 2016 | 2,353 |
| 23 | AN ELECTRON-TRANSPORT SYSTEM ASSOCIATED WITH THE OUTER MEMBRANE OF LIVER MITOCHONDRIA Gian Luigi Sottocasa, Bo Kuylenstierna, Lars Ernster et al. · The Journal of Cell Biology | Feb 1967 | 2,322 |
| 24 | Mitochondrial Complex I Deficiency in Parkinson's Disease Anthony H.V. Schapira, Jonathan M. Cooper, David Trevor Dexter et al. · Journal of Neurochemistry | Mar 1990 | 2,308 |
| 25 | A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS Robert W. Guthrie, Ada Susi · PEDIATRICS | Sep 1963 | 2,243 |
| 26 | ER Tubules Mark Sites of Mitochondrial Division Jonathan R. Friedman, Laura L. Lackner, Matthew West et al. · Science | Sep 2011 | 2,132 |
| 27 | Mitophagy and Quality Control Mechanisms in Mitochondrial Maintenance Sarah R. Pickles, Pierre Vigié, Richard J. Youle · Current Biology | Feb 2018 | 2,116 |
| 28 | Oxidative damage and mitochondrial decay in aging. Mark K. Shigenaga, Tory M. Hagen, B N Ames · Proceedings of the National Academy of Sciences | 8 Nov 1994 | 2,070 |
| 29 | Mitochondrial membrane potential Ljubava D. Zorova, Vasily A. Popkov, Egor Y. Plotnikov et al. · Analytical Biochemistry | 12 Jul 2017 | 2,069 |
| 30 | Mitochondrial fusion and fission in cell life and death Benedikt Westermann · Nature Reviews Molecular Cell Biology | 23 Nov 2010 | 2,034 |
| 31 | Mitochondria: More Than Just a Powerhouse Heidi May McBride, Margaret Neuspiel, Sylwia Wasiak · Current Biology | Jul 2006 | 2,018 |
| 32 | Mitochondria: Dynamic Organelles in Disease, Aging, and Development David C. M. Chan · Cell | Jun 2006 | 2,007 |
| 33 | The multifaceted contributions of mitochondria to cellular metabolism Jessica B. Spinelli, Marcia C. Haigis · Nature Cell Biology | 22 Jun 2018 | 1,989 |
| 34 | Simultaneous single isotope radioenzymatic assay of plasma norepinephrine, epinephrine and dopamine Jacob D. Peuler, Garland A. Johnson · Life Sciences | Sep 1977 | 1,910 |
| 35 | Mitochondrial DNA mutations in human disease Robert William Taylor, Douglass M. Turnbull · Nature Reviews Genetics | 29 Apr 2005 | 1,889 |
| 36 | The redox state of free nicotinamide-adenine dinucleotide in the cytoplasm and mitochondria of rat liver DH Williamson, P. Kay Lund, HA Krebs · Biochemical Journal | May 1967 | 1,883 |
| 37 | Verteilung Von Noradrenalin Und Dopamin (3-Hydroxytyramin) Im Gehirn Des Menschen Und Ihr Verhalten Bei Erkrankungen Des Extrapyramidalen Systems H Ehringer, Oleh Hornykiewicz · Journal of Molecular Medicine | Dec 1960 | 1,882 |
| 38 | Mitochondrial DNA damage is more extensive and persists longer than nuclear DNA damage in human cells following oxidative stress F. Michael Yakes, Bennett Van Houten · Proceedings of the National Academy of Sciences | 21 Jan 1997 | 1,872 |
| 39 | Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation Mannis van Oven, Manfred Kayser · Human Mutation | 14 Oct 2008 | 1,868 |
| 40 | Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies Ian James Holt, A. E. Beryl Harding, JOHN A. MORGAN-HUGHES · Nature | Feb 1988 | 1,862 |
| 41 | Mitochondrial form and function Jonathan R. Friedman, Jodi M. Nunnari · Nature | 14 Jan 2014 | 1,854 |
| 42 | Bidirectional Transport of Amino Acids Regulates mTOR and Autophagy Paul L. Nicklin, Philip J. Bergman, Bailin Zhang et al. · Cell | Feb 2009 | 1,810 |
| 43 | Excitatory amino acid neurotoxicity and neurodegenerative disease Brian S. Meldrum, John Garthwaite · Trends in Pharmacological Sciences | Sep 1990 | 1,780 |
| 44 | Mitochondrial dysfunction and oxidative stress in metabolic disorders — A step towards mitochondria based therapeutic strategies Jasvinder Singh Bhatti, Gurjit Kaur Bhatti, P. Hemachandra Reddy · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease | 9 Nov 2016 | 1,694 |
| 45 | Mitochondria-Targeted Triphenylphosphonium-Based Compounds: Syntheses, Mechanisms of Action, and Therapeutic and Diagnostic Applications Jacek Zielonka, Joy Joseph, Adam Sikora et al. · Chemical Reviews | 27 Jun 2017 | 1,682 |
| 46 | INFLUENCES OF GLUCOSE LOADING AND OF INJECTED INSULIN ON HEPATIC GLUCOSE OUTPUT* Robert D. Steele · Annals of the New York Academy of Sciences | Sep 1959 | 1,679 |
| 47 | Variable Number of Tandem Repeat (VNTR) Markers for Human Gene Mapping Yusuke Nakamura, Mark Leppert, Peter O'Connell et al. · Science | 27 Mar 1987 | 1,669 |
| 48 | Mitochondrial Respiratory-Chain Diseases Salvatore DiMauro, Eric A. Schon · New England Journal of Medicine | 25 Jun 2003 | 1,668 |
| 49 | An atlas of genetic influences on human blood metabolites So–Youn Shin et al. · Nature Genetics | 11 May 2014 | 1,666 |
| 50 | The mitochondrial genome: structure, transcription, translation and replication Jan‐Willem Taanman · Biochimica et Biophysica Acta (BBA) - Bioenergetics | Feb 1999 | 1,660 |
Citations are OpenAlex's own counts, from its 2026-09-23 snapshot, so the ranking can differ from Google Scholar or Web of Science. A paper is listed for a field when OpenAlex files it under one of the field's topics; retracted papers and papers whose citation count cannot be traced to citing works are left out, and a preprint and the article it became are shown once. Release dates are OpenAlex's: where a source gave only a month or a year, that is what is shown. How the lists are chosen.