Go to JCI Insight
  • About
  • Editors
  • Consulting Editors
  • For authors
  • Publication ethics
  • Publication alerts by email
  • Advertising
  • Job board
  • Contact
  • Clinical Research and Public Health
  • Current issue
  • Past issues
  • By specialty
    • COVID-19
    • Cardiology
    • Gastroenterology
    • Immunology
    • Metabolism
    • Nephrology
    • Neuroscience
    • Oncology
    • Pulmonology
    • Vascular biology
    • All ...
  • Videos
    • Conversations with Giants in Medicine
    • Video Abstracts
  • Reviews
    • View all reviews ...
    • Complement Biology and Therapeutics (May 2025)
    • Evolving insights into MASLD and MASH pathogenesis and treatment (Apr 2025)
    • Microbiome in Health and Disease (Feb 2025)
    • Substance Use Disorders (Oct 2024)
    • Clonal Hematopoiesis (Oct 2024)
    • Sex Differences in Medicine (Sep 2024)
    • Vascular Malformations (Apr 2024)
    • View all review series ...
  • Viewpoint
  • Collections
    • In-Press Preview
    • Clinical Research and Public Health
    • Research Letters
    • Letters to the Editor
    • Editorials
    • Commentaries
    • Editor's notes
    • Reviews
    • Viewpoints
    • 100th anniversary
    • Top read articles

  • Current issue
  • Past issues
  • Specialties
  • Reviews
  • Review series
  • Conversations with Giants in Medicine
  • Video Abstracts
  • In-Press Preview
  • Clinical Research and Public Health
  • Research Letters
  • Letters to the Editor
  • Editorials
  • Commentaries
  • Editor's notes
  • Reviews
  • Viewpoints
  • 100th anniversary
  • Top read articles
  • About
  • Editors
  • Consulting Editors
  • For authors
  • Publication ethics
  • Publication alerts by email
  • Advertising
  • Job board
  • Contact

Citations to this article

Frataxin deficiency in pancreatic islets causes diabetes due to loss of β cell mass
Michael Ristow, … , Michel Koenig, Andreas F.H. Pfeiffer
Michael Ristow, … , Michel Koenig, Andreas F.H. Pfeiffer
Published August 15, 2003
Citation Information: J Clin Invest. 2003;112(4):527-534. https://doi.org/10.1172/JCI18107.
View: Text | PDF
Article Metabolism

Frataxin deficiency in pancreatic islets causes diabetes due to loss of β cell mass

  • Text
  • PDF
Abstract

Diabetes is caused by an absolute (type 1) or relative (type 2) deficiency of insulin-producing β cells. We have disrupted expression of the mitochondrial protein frataxin selectively in pancreatic β cells. Mice were born healthy but subsequently developed impaired glucose tolerance progressing to overt diabetes mellitus. These observations were explained by impairment of insulin secretion due to a loss of β cell mass in knockout animals. This phenotype was preceded by elevated levels of reactive oxygen species in knockout islets, an increased frequency of apoptosis, and a decreased number of proliferating β cells. Hence, disruption of the frataxin gene in pancreatic β cells causes diabetes following cellular growth arrest and apoptosis, paralleled by an increase in reactive oxygen species in islets. These observations might provide insight into the deterioration of β cell function observed in different subtypes of diabetes in humans.

Authors

Michael Ristow, Hindrik Mulder, Doreen Pomplun, Tim J. Schulz, Katrin Müller-Schmehl, Anja Krause, Malin Fex, Hélène Puccio, Jörg Müller, Frank Isken, Joachim Spranger, Dirk Müller-Wieland, Mark A. Magnuson, Matthias Möhlig, Michel Koenig, Andreas F.H. Pfeiffer

×

Total citations by year

Year: 2023 2022 2021 2020 2018 2017 2016 2015 2014 2013 2012 2011 2010 2009 2008 2007 2006 2005 2004 Total
Citations: 1 1 1 3 1 1 7 5 5 5 4 2 5 3 4 5 3 1 2 59
Citation information
This citation data is accumulated from CrossRef, which receives citation information from participating publishers, including this journal. Not all publishers participate in CrossRef, so this information is not comprehensive. Additionally, data may not reflect the most current citations to this article, and the data may differ from citation information available from other sources (for example, Google Scholar, Web of Science, and Scopus).

Citations to this article (59)

Title and authors Publication Year
Dimorphic frataxin and its gene regulation by sex steroids in hamsters.
Ramos L
Molecular genetics and genomics : MGG 2023
Ferroptosis Signaling in Pancreatic β-Cells: Novel Insights & Therapeutic Targeting
Elumalai S, Karunakaran U, Moon JS, Won KC
International journal of molecular sciences 2022
Multi-strain probiotic supplement attenuates streptozotocin-induced type-2 diabetes by reducing inflammation and β-cell death in rats
Hsieh PS, Ho HH, Tsao SP, Hsieh SH, Lin WY, Chen JF, Kuo YW, Tsai SY, Huang HY
PloS one 2021
Irp2 regulates insulin production through iron-mediated Cdkal1-catalyzed tRNA modification
MC dos Santos, CP Anderson, S Neschen, KB Zumbrennen-Bullough, SJ Romney, M Kahle-Stephan, B Rathkolb, V Gailus-Durner, H Fuchs, E Wolf, J Rozman, MH de Angelis, WM Cai, M Rajan, J Hu, PC Dedon, EA Leibold
Nature Communications 2020
Mitochondrial Carriers Regulating Insulin Secretion Profiled in Human Islets upon Metabolic Stress
C Jimenez-Sánchez, T Brun, P Maechler
Biomolecules 2020
Pluripotent stem cells with low differentiation potential contain incompletely reprogrammed DNA replication.
Paniza T, Deshpande M, Wang N, O'Neil R, Zuccaro MV, Smith ME, Madireddy A, James D, Ecker J, Rosenwaks Z, Egli D, Gerhardt J
The Journal of Cell Biology 2020
Low-level mitochondrial heteroplasmy modulates DNA replication, glucose metabolism and lifespan in mice
M Hirose, P Schilf, Y Gupta, K Zarse, A Künstner, A Fähnrich, H Busch, J Yin, MN Wright, A Ziegler, M Vallier, M Belheouane, JF Baines, D Tautz, K Johann, R Oelkrug, J Mittag, H Lehnert, A Othman, O Jöhren, M Schwaninger, C Prehn, J Adamski, K Shima, J Rupp, R Häsler, G Fuellen, R Köhling, M Ristow, SM Ibrahim
Scientific Reports 2018
Hepatitis B X-interacting protein promotes the formation of the insulin gene–transcribing protein complex Pdx-1/Neurod1 in animal pancreatic β-cells
H Li, Z Wang, Y Li, R Fang, H Wang, H Shi, X Zhang, W Zhang, L Ye
The Journal of biological chemistry 2017
The Role of Oxidative Stress and Hypoxia in Pancreatic Beta-Cell Dysfunction in Diabetes Mellitus
PA Gerber, GA Rutter
Antioxidants & Redox Signaling 2016
Oxytocin Protects against Stress-Induced Cell Death in Murine Pancreatic β-Cells
S Watanabe, FY Wei, T Matsunaga, N Matsunaga, T Kaitsuka, K Tomizawa
Scientific Reports 2016
Effects of genetic severity on glucose homeostasis in Friedreich ataxia: Glucose Homeostasis in FRDA
CJ Isaacs, KW Brigatti, O Kucheruk, S Ratcliffe, T Sciascia, SE McCormack, SM Willi, DR Lynch
Muscle & Nerve 2016
Time-resolved functional analysis of acute impairment of frataxin expression in an inducible cell model of Friedreich ataxia
D Poburski, JB Boerner, M Koenig, M Ristow, R Thierbach
Biology Open 2016
Two different pathogenic mechanisms, dying-back axonal neuropathy and pancreatic senescence, are present in the YG8R mouse model of Friedreich’s ataxia
B Mollá, F Riveiro, A Bolinches-Amorós, DC Muñoz-Lasso, F Palau, P González-Cabo
Disease models & mechanisms 2016
Lymphoblast Oxidative Stress Genes as Potential Biomarkers of Disease Severity and Drug Effect in Friedreich's Ataxia
G Hayashi, G Cortopassi, D Fang
PloS one 2016
Liver p53 is stabilized upon starvation and required for amino acid catabolism and gluconeogenesis
A Prokesch, FA Graef, T Madl, J Kahlhofer, S Heidenreich, A Schumann, E Moyschewitz, P Pristoynik, A Blaschitz, M Knauer, M Muenzner, JG Bogner-Strauss, G Dohr, TJ Schulz, M Schupp
The FASEB Journal 2016
The Role of Organelle Stresses in Diabetes Mellitus and Obesity: Implication for Treatment
YC Chang, SW Hee, ML Hsieh, YM Jeng, LM Chuang
Analytical cellular pathology (Amsterdam) 2015
Mitochondrial Diseases Part II: Mouse models of OXPHOS deficiencies caused by defects in regulatory factors and other components required for mitochondrial function
L Iommarini, S Peralta, A Torraco, F Diaz
Mitochondrion 2015
A novel GAA-repeat-expansion-based mouse model of Friedreich's ataxia
SA Virmouni, V Ezzatizadeh, C Sandi, M Sandi, S Al-Mahdawi, Y Chutake, MA Pook
Disease models & mechanisms 2015
TORC1 Inhibition by Rapamycin Promotes Antioxidant Defences in a Drosophila Model of Friedreich’s Ataxia
P Calap-Quintana, S Soriano, JV Llorens, I Al-Ramahi, J Botas, MD Moltó, MJ Martínez-Sebastián, F Palau
PloS one 2015
Oxidative stress in inherited mitochondrial diseases
G Hayashi, G Cortopassi
Free radical biology & medicine 2015
Common defects of mitochondria and iron in neurodegeneration and diabetes (MIND): A paradigm worth exploring
M Stroh, RH Swerdlow, H Zhu
Biochemical Pharmacology 2014
D-Glucosamine supplementation extends life span of nematodes and of ageing mice
S Weimer, J Priebs, D Kuhlow, M Groth, S Priebe, J Mansfeld, TL Merry, S Dubuis, B Laube, AF Pfeiffer, TJ Schulz, R Guthke, M Platzer, N Zamboni, K Zarse, M Ristow
Nature Communications 2014
Frataxin deficiency increases cyclooxygenase 2 and prostaglandins in cell and animal models of Friedreich's ataxia
G Hayashi, Y Shen, TL Pedersen, JW Newman, M Pook, G Cortopassi
Human Molecular Genetics 2014
Cellular, Molecular and Functional Characterisation of YAC Transgenic Mouse Models of Friedreich Ataxia
SA Virmouni, C Sandi, S Al-Mahdawi, MA Pook, A Pastore
PloS one 2014
Iron–sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery
N Maio, TA Rouault
Biochimica et Biophysica Acta (BBA) - Molecular Cell Research 2014
Frataxin Deficiency Leads to Defects in Expression of Antioxidants and Nrf2 Expression in Dorsal Root Ganglia of the Friedreich's Ataxia YG8R Mouse Model
Y Shan, RA Schoenfeld, G Hayashi, E Napoli, T Akiyama, MI Carstens, EE Carstens, MA Pook, GA Cortopassi
Antioxidants & Redox Signaling 2013
BRAIN IRON HOMEOSTASIS: FROM MOLECULAR MECHANISMS TO CLINICAL SIGNIFICANCE AND THERAPEUTIC OPPORTUNITIES
N Singh, S Haldar, AK Tripathi, K Horback, J Wong, D Sharma, A Beserra, S Suda, C Anbalagan, S Dev, C Mukhopadhyay, singh
Antioxidants & Redox Signaling 2013
Frataxin Deficiency Leads to Reduced Expression and Impaired Translocation of NF-E2-Related Factor (Nrf2) in Cultured Motor Neurons
V D'Oria, S Petrini, L Travaglini, C Priori, E Piermarini, S Petrillo, B Carletti, E Bertini, F Piemonte
International journal of molecular sciences 2013
Loss of Prohibitin Induces Mitochondrial Damages Altering  -Cell Function and Survival and Is Responsible for Gradual Diabetes Development
S Supale, F Thorel, C Merkwirth, A Gjinovci, PL Herrera, L Scorrano, P Meda, T Langer, P Maechler
Diabetes 2013
Iron–sulfur cluster synthesis, iron homeostasis and oxidative stress in Friedreich ataxia
RA Vaubel, G Isaya
Molecular and Cellular Neuroscience 2013
Advancing Animal Models of Human Type 1 Diabetes by Engraftment of Functional Human Tissues in Immunodeficient Mice
MA Brehm, AC Powers, LD Shultz, DL Greiner
Cold Spring Harbor Perspectives in Medicine 2012
Understanding the genetic and molecular pathogenesis of Friedreich’s ataxia through animal and cellular models
A Martelli, M Napierala, H Puccio
Disease models & mechanisms 2012
Central role and mechanisms of β-cell dysfunction and death in friedreich ataxia-associated diabetes
M Cnop, M Igoillo-Esteve, M Rai, A Begu, Y Serroukh, C Depondt, AE Musuaya, I Marhfour, L Ladrière, XM Lopez, D Lefkaditis, F Moore, JP Brion, JM Cooper, AH Schapira, A Clark, AH Koeppen, P Marchetti, M Pandolfo, DL Eizirik, F Féry
Annals of Neurology 2012
Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia
A Martelli, LS Friedman, L Reutenauer, N Messaddeq, SL Perlman, DR Lynch, K Fedosov, JB Schulz, M Pandolfo, H Puccio
Disease models & mechanisms 2012
Friedreich's ataxia: Pathology, pathogenesis, and molecular genetics
AH Koeppen
Journal of the Neurological Sciences 2011
Overexpression of Human and Fly Frataxins in Drosophila Provokes Deleterious Effects at Biochemical, Physiological and Developmental Levels
JA Navarro, JV Llorens, S Soriano, JA Botella, S Schneuwly, MJ Martínez-Sebastián, MD Moltó, MB Feany
PloS one 2011
The Friedreich's ataxia protein frataxin modulates DNA base excision repair in prokaryotes and mammals
R Thierbach, G Drewes, M Fusser, A Voigt, D Kuhlow, U Blume, TJ Schulz, C Reiche, H Glatt, B Epe, P Steinberg, M Ristow
Biochemical Journal 2010
Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities
R Santos, S Lefevre, D Sliwa, A Seguin, JM Camadro, E Lesuisse
Antioxidants & Redox Signaling 2010
Opposing effects of dietary sugar and saturated fat on cardiovascular risk factors and glucose metabolism in mitochondrially impaired mice
D Kuhlow, K Zarse, A Voigt, TJ Schulz, KJ Petzke, L Schomburg, AF Pfeiffer, M Ristow
European Journal of Nutrition 2010
Telomerase deficiency impairs glucose metabolism and insulin secretion.
Kuhlow D, Florian S, von Figura G, Weimer S, Schulz N, Petzke KJ, Zarse K, Pfeiffer AF, Rudolph KL, Ristow M
Aging 2010
Activation of mitochondrial energy metabolism protects against cardiac failure.
Schulz TJ, Westermann D, Isken F, Voigt A, Laube B, Thierbach R, Kuhlow D, Zarse K, Schomburg L, Pfeiffer AF, Tschöpe C, Ristow M
Aging 2010
Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARgamma pathway as a therapeutic target in Friedreich's ataxia
G Coppola, D Marmolino, D Lu, Q Wang, M Cnop, M Rai, F Acquaviva, S Cocozza, M Pandolfo, DH Geschwind
Human Molecular Genetics 2009
Mitochondria and diabetes mellitus: untangling a conflictive relationship?
M Schiff, S Loublier, A Coulibaly, P Bénit, HO de Baulny, P Rustin
Journal of Inherited Metabolic Disease 2009
Multicellular models of Friedreich ataxia
H Puccio
Journal of Neurology 2009
Deficiency of glucose-dependent insulinotropic polypeptide receptor prevents ovariectomy-induced obesity in mice
F Isken, AF Pfeiffer, R Nogueiras, MA Osterhoff, M Ristow, B Thorens, MH Tschöp, MO Weickert
American journal of physiology. Endocrinology and metabolism 2008
Mitochondrial ferritin limits oxidative damage regulating mitochondrial iron availability: hypothesis for a protective role in Friedreich ataxia
A Campanella, E Rovelli, P Santambrogio, A Cozzi, F Taroni, S Levi
Human Molecular Genetics 2008
A beta cell-specific knockout of hormone-sensitive lipase in mice results in hyperglycaemia and disruption of exocytosis
M Fex, G Haemmerle, N Wierup, M Dekker-Nitert, M Rehn, M Ristow, R Zechner, F Sundler, C Holm, L Eliasson, H Mulder
Diabetologia 2008
Assembly of the Iron-binding Protein Frataxin in Saccharomyces cerevisiae Responds to Dynamic Changes in Mitochondrial Iron Influx and Stress Level
O Gakh, DY Smith, G Isaya
The Journal of biological chemistry 2008
Reduced expression of mitochondrial frataxin in mice exacerbates diet-induced obesity
D Pomplun, A Voigt, TJ Schulz, R Thierbach, AF Pfeiffer, M Ristow
Proceedings of the National Academy of Sciences 2007
Pancreatic deletion of insulin receptor substrate 2 reduces beta and alpha cell mass and impairs glucose homeostasis in mice
J Cantley, AI Choudhury, H Asare-Anane, C Selman, S Lingard, H Heffron, P Herrera, SJ Persaud, DJ Withers
Diabetologia 2007
Frataxin knockdown causes loss of cytoplasmic iron–sulfur cluster functions, redox alterations and induction of heme transcripts
C Lu, G Cortopassi
Archives of Biochemistry and Biophysics 2007
Variable Expression of Cre Recombinase Transgenes Precludes Reliable Prediction of Tissue-Specific Gene Disruption by Tail-Biopsy Genotyping
TJ Schulz, M Glaubitz, D Kuhlow, R Thierbach, M Birringer, P Steinberg, AF Pfeiffer, M Ristow, P Fraser
PloS one 2007
Improved glucose metabolism in mice lacking alpha-tocopherol transfer protein.
Birringer M, Kuhlow D, Pfluger PT, Landes N, Schulz TJ, Glaubitz M, Florian S, Pfeiffer A, Schuelke M, Brigelius-Flohé R, Ristow M
European Journal of Nutrition 2007
GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology
S Al-Mahdawi, RM Pinto, D Varshney, L Lawrence, MB Lowrie, S Hughes, Z Webster, J Blake, JM Cooper, R King, MA Pook
Genomics 2006
The Structure and Function of Frataxin
KZ Bencze, KC Kondapalli, JD Cook, S McMahon, C Millán-Pacheco, N Pastor, TL Stemmler
Critical Reviews in Biochemistry and Molecular Biology 2006
Gene expression profiling in frataxin deficient mice: Microarray evidence for significant expression changes without detectable neurodegeneration
G Coppola, SH Choi, MM Santos, CJ Miranda, D Tentler, EM Wexler, M Pandolfo, DH Geschwind
Neurobiology of Disease 2006
Monogenic syndromes of abnormal glucose homeostasis: clinical review and relevance to the understanding of the pathology of insulin resistance and beta cell failure
JR Porter, TG Barrett
Journal of medical genetics 2005
Absence of a reductase, NCB5OR, causes insulin-deficient diabetes
J Xie, H Zhu, K Larade, A Ladoux, A Seguritan, M Chu, S Ito, RT Bronson, EH Leiter, CY Zhang, ED Rosen, HF Bunn
Proceedings of the National Academy of Sciences 2004
Neurodegenerative disorders associated with diabetes mellitus.
Ristow M
Journal of Molecular Medicine 2004

← Previous 1 2 3 Next →

Advertisement

Copyright © 2025 American Society for Clinical Investigation
ISSN: 0021-9738 (print), 1558-8238 (online)

Sign up for email alerts