Type |
Details |
Score |
Gene |
Type: |
gene |
Organism: |
human |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
frog, western clawed |
|
•
•
•
•
•
|
Gene |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
dog, domestic |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chimpanzee |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
cattle |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chicken |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
zebrafish |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
macaque, rhesus |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Publication |
First Author: |
Chutake YK |
Year: |
2015 |
Journal: |
PLoS One |
Title: |
FXN Promoter Silencing in the Humanized Mouse Model of Friedreich Ataxia. |
Volume: |
10 |
Issue: |
9 |
Pages: |
e0138437 |
|
•
•
•
•
•
|
Publication |
First Author: |
Filali M |
Year: |
2015 |
Journal: |
Brain Res |
Title: |
Sensorimotor skills in Fxn KO/Mck mutants deficient for frataxin in muscle. |
Volume: |
1608 |
|
Pages: |
91-6 |
|
•
•
•
•
•
|
Publication |
First Author: |
Medina-Carbonero M |
Year: |
2022 |
Journal: |
Cell Mol Life Sci |
Title: |
Mice harboring the FXN I151F pathological point mutation present decreased frataxin levels, a Friedreich ataxia-like phenotype, and mitochondrial alterations. |
Volume: |
79 |
Issue: |
2 |
Pages: |
74 |
|
•
•
•
•
•
|
Publication |
First Author: |
Perfitt TL |
Year: |
2024 |
Journal: |
Am J Physiol Heart Circ Physiol |
Title: |
A modified mouse model of Friedreich's ataxia with conditional Fxn allele homozygosity delays onset of cardiomyopathy. |
Volume: |
326 |
Issue: |
2 |
Pages: |
H357-H369 |
|
•
•
•
•
•
|
Publication |
First Author: |
Miller JL |
Year: |
2017 |
Journal: |
Neuropharmacology |
Title: |
Erythropoietin and small molecule agonists of the tissue-protective erythropoietin receptor increase FXN expression in neuronal cells in vitro and in Fxn-deficient KIKO mice in vivo. |
Volume: |
123 |
|
Pages: |
34-45 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kilikevicius A |
Year: |
2022 |
Journal: |
RNA Biol |
Title: |
Difficulties translating antisense-mediated activation of Frataxin expression from cell culture to mice. |
Volume: |
19 |
Issue: |
1 |
Pages: |
364-372 |
|
•
•
•
•
•
|
Publication |
First Author: |
Tomassini B |
Year: |
2012 |
Journal: |
Hum Mol Genet |
Title: |
Interferon gamma upregulates frataxin and corrects the functional deficits in a Friedreich ataxia model. |
Volume: |
21 |
Issue: |
13 |
Pages: |
2855-61 |
|
•
•
•
•
•
|
Publication |
First Author: |
Rodden LN |
Year: |
2022 |
Journal: |
Sci Rep |
Title: |
DNA methylation in Friedreich ataxia silences expression of frataxin isoform E. |
Volume: |
12 |
Issue: |
1 |
Pages: |
5031 |
|
•
•
•
•
•
|
Publication |
First Author: |
Sandi C |
Year: |
2011 |
Journal: |
Neurobiol Dis |
Title: |
Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model. |
Volume: |
42 |
Issue: |
3 |
Pages: |
496-505 |
|
•
•
•
•
•
|
Publication |
First Author: |
Vicente-Acosta A |
Year: |
2024 |
Journal: |
Neurobiol Dis |
Title: |
Glial cell activation precedes neurodegeneration in the cerebellar cortex of the YG8-800 murine model of Friedreich ataxia. |
Volume: |
200 |
|
Pages: |
106631 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mollá B |
Year: |
2016 |
Journal: |
Dis Model Mech |
Title: |
Two different pathogenic mechanisms, dying-back axonal neuropathy and pancreatic senescence, are present in the YG8R mouse model of Friedreich's ataxia. |
Volume: |
9 |
Issue: |
6 |
Pages: |
647-57 |
|
•
•
•
•
•
|
Publication |
First Author: |
Villa C |
Year: |
2021 |
Journal: |
Sci Transl Med |
Title: |
Treatment with ROS detoxifying gold quantum clusters alleviates the functional decline in a mouse model of Friedreich ataxia. |
Volume: |
13 |
Issue: |
607 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Gérard C |
Year: |
2023 |
Journal: |
Behav Brain Res |
Title: |
A promising mouse model for Friedreich Ataxia progressing like human patients. |
Volume: |
436 |
|
Pages: |
114107 |
|
•
•
•
•
•
|
Publication |
First Author: |
Abeti R |
Year: |
2022 |
Journal: |
Front Mol Biosci |
Title: |
A Drug Combination Rescues Frataxin-Dependent Neural and Cardiac Pathophysiology in FA Models. |
Volume: |
9 |
|
Pages: |
830650 |
|
•
•
•
•
•
|
Publication |
First Author: |
Sahdeo S |
Year: |
2014 |
Journal: |
Hum Mol Genet |
Title: |
Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia. |
Volume: |
23 |
Issue: |
25 |
Pages: |
6848-62 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kalef-Ezra E |
Year: |
2023 |
Journal: |
Front Neurosci |
Title: |
A new FRDA mouse model [Fxn (null):YG8s(GAA) > 800] with more than 800 GAA repeats. |
Volume: |
17 |
|
Pages: |
930422 |
|
•
•
•
•
•
|
Publication |
First Author: |
Liu Y |
Year: |
2021 |
Journal: |
Hum Mol Genet |
Title: |
SS-31 efficacy in a mouse model of Friedreich ataxia by upregulation of frataxin expression. |
Volume: |
31 |
Issue: |
2 |
Pages: |
176-188 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yaméogo P |
Year: |
2023 |
Journal: |
Gene Ther |
Title: |
Removal of the GAA repeat in the heart of a Friedreich's ataxia mouse model using CjCas9. |
Volume: |
30 |
Issue: |
7-8 |
Pages: |
612-619 |
|
•
•
•
•
•
|
Publication |
First Author: |
Sayles NM |
Year: |
2023 |
Journal: |
Dis Model Mech |
Title: |
Comparative multi-omic analyses of cardiac mitochondrial stress in three mouse models of frataxin deficiency. |
Volume: |
16 |
Issue: |
10 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Al-Mahdawi S |
Year: |
2008 |
Journal: |
Hum Mol Genet |
Title: |
The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues. |
Volume: |
17 |
Issue: |
5 |
Pages: |
735-46 |
|
•
•
•
•
•
|
Publication |
First Author: |
Anjomani Virmouni S |
Year: |
2014 |
Journal: |
PLoS One |
Title: |
Cellular, molecular and functional characterisation of YAC transgenic mouse models of Friedreich ataxia. |
Volume: |
9 |
Issue: |
9 |
Pages: |
e107416 |
|
•
•
•
•
•
|
Publication |
First Author: |
Rocca CJ |
Year: |
2017 |
Journal: |
Sci Transl Med |
Title: |
Transplantation of wild-type mouse hematopoietic stem and progenitor cells ameliorates deficits in a mouse model of Friedreich's ataxia. |
Volume: |
9 |
Issue: |
413 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Anjomani Virmouni S |
Year: |
2015 |
Journal: |
Dis Model Mech |
Title: |
A novel GAA-repeat-expansion-based mouse model of Friedreich's ataxia. |
Volume: |
8 |
Issue: |
3 |
Pages: |
225-35 |
|
•
•
•
•
•
|
Publication |
First Author: |
Al-Mahdawi S |
Year: |
2006 |
Journal: |
Genomics |
Title: |
GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology. |
Volume: |
88 |
Issue: |
5 |
Pages: |
580-90 |
|
•
•
•
•
•
|
Publication |
First Author: |
Franco C |
Year: |
2012 |
Journal: |
Mol Neurodegener |
Title: |
Frataxin deficiency unveils cell-context dependent actions of insulin-like growth factor I on neurons. |
Volume: |
7 |
|
Pages: |
51 |
|
•
•
•
•
•
|
Publication |
First Author: |
Sanz-Alcázar A |
Year: |
2024 |
Journal: |
Redox Biol |
Title: |
Deciphering the ferroptosis pathways in dorsal root ganglia of Friedreich ataxia models. The role of LKB1/AMPK, KEAP1, and GSK3β in the impairment of the NRF2 response. |
Volume: |
76 |
|
Pages: |
103339 |
|
•
•
•
•
•
|
Publication |
First Author: |
Turchi R |
Year: |
2023 |
Journal: |
iScience |
Title: |
Butyrate prevents visceral adipose tissue inflammation and metabolic alterations in a Friedreich's ataxia mouse model. |
Volume: |
26 |
Issue: |
10 |
Pages: |
107713 |
|
•
•
•
•
•
|
Publication |
First Author: |
Santoro A |
Year: |
2018 |
Journal: |
Hum Mol Genet |
Title: |
Effect of diazoxide on Friedreich ataxia models. |
Volume: |
27 |
Issue: |
6 |
Pages: |
992-1001 |
|
•
•
•
•
•
|
Publication |
First Author: |
Pook MA |
Year: |
2001 |
Journal: |
Neurogenetics |
Title: |
Rescue of the Friedreich's ataxia knockout mouse by human YAC transgenesis. |
Volume: |
3 |
Issue: |
4 |
Pages: |
185-93 |
|
•
•
•
•
•
|
Publication |
First Author: |
Shan Y |
Year: |
2013 |
Journal: |
Antioxid Redox Signal |
Title: |
Frataxin deficiency leads to defects in expression of antioxidants and Nrf2 expression in dorsal root ganglia of the Friedreich's ataxia YG8R mouse model. |
Volume: |
19 |
Issue: |
13 |
Pages: |
1481-93 |
|
•
•
•
•
•
|
Publication |
First Author: |
Rodríguez-Pascau L |
Year: |
2021 |
Journal: |
Neurobiol Dis |
Title: |
PPAR gamma agonist leriglitazone improves frataxin-loss impairments in cellular and animal models of Friedreich Ataxia. |
Volume: |
148 |
|
Pages: |
105162 |
|
•
•
•
•
•
|
Publication |
First Author: |
Muñoz-Lasso DC |
Year: |
2020 |
Journal: |
Sci Rep |
Title: |
Cofilin dysregulation alters actin turnover in frataxin-deficient neurons. |
Volume: |
10 |
Issue: |
1 |
Pages: |
5207 |
|
•
•
•
•
•
|
Publication |
First Author: |
Martelli A |
Year: |
2012 |
Journal: |
Dis Model Mech |
Title: |
Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia. |
Volume: |
5 |
Issue: |
6 |
Pages: |
860-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Sarsero JP |
Year: |
2014 |
Journal: |
PLoS One |
Title: |
Rescue of the Friedreich ataxia knockout mutation in transgenic mice containing an FXN-EGFP genomic reporter. |
Volume: |
9 |
Issue: |
3 |
Pages: |
e93307 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zhao H |
Year: |
2020 |
Journal: |
Sci Rep |
Title: |
Long-term voluntary running prevents the onset of symptomatic Friedreich's ataxia in mice. |
Volume: |
10 |
Issue: |
1 |
Pages: |
6095 |
|
•
•
•
•
•
|
Publication |
First Author: |
Igoillo-Esteve M |
Year: |
2020 |
Journal: |
JCI Insight |
Title: |
Exenatide induces frataxin expression and improves mitochondrial function in Friedreich ataxia. |
Volume: |
5 |
Issue: |
2 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Jasoliya MJ |
Year: |
2017 |
Journal: |
Hum Mol Genet |
Title: |
Frataxin deficiency impairs mitochondrial biogenesis in cells, mice and humans. |
Volume: |
26 |
Issue: |
14 |
Pages: |
2627-2633 |
|
•
•
•
•
•
|
Publication |
First Author: |
Turchi R |
Year: |
2020 |
Journal: |
Cell Death Dis |
Title: |
Frataxin deficiency induces lipid accumulation and affects thermogenesis in brown adipose tissue. |
Volume: |
11 |
Issue: |
1 |
Pages: |
51 |
|
•
•
•
•
•
|
Publication |
First Author: |
Perdomini M |
Year: |
2014 |
Journal: |
Nat Med |
Title: |
Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich's ataxia. |
Volume: |
20 |
Issue: |
5 |
Pages: |
542-7 |
|
•
•
•
•
•
|
Publication |
First Author: |
Culley MK |
Year: |
2021 |
Journal: |
J Clin Invest |
Title: |
Frataxin deficiency promotes endothelial senescence in pulmonary hypertension. |
Volume: |
131 |
Issue: |
11 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Vyas PM |
Year: |
2012 |
Journal: |
Hum Mol Genet |
Title: |
A TAT-frataxin fusion protein increases lifespan and cardiac function in a conditional Friedreich's ataxia mouse model. |
Volume: |
21 |
Issue: |
6 |
Pages: |
1230-47 |
|
•
•
•
•
•
|
Publication |
First Author: |
Franco C |
Year: |
2017 |
Journal: |
Mol Cell Neurosci |
Title: |
A role for astrocytes in cerebellar deficits in frataxin deficiency: Protection by insulin-like growth factor I. |
Volume: |
80 |
|
Pages: |
100-110 |
|
•
•
•
•
•
|
Publication |
First Author: |
Chang JC |
Year: |
2024 |
Journal: |
Mol Ther Methods Clin Dev |
Title: |
AAV8 gene therapy reverses cardiac pathology and prevents early mortality in a mouse model of Friedreich's ataxia. |
Volume: |
32 |
Issue: |
1 |
Pages: |
101193 |
|
•
•
•
•
•
|
Publication |
First Author: |
Tong WH |
Year: |
2022 |
Journal: |
Heliyon |
Title: |
Hyperactivation of mTOR and AKT in a cardiac hypertrophy animal model of Friedreich ataxia. |
Volume: |
8 |
Issue: |
8 |
Pages: |
e10371 |
|
•
•
•
•
•
|
Publication |
First Author: |
Cotticelli MG |
Year: |
2019 |
Journal: |
J Pharmacol Exp Ther |
Title: |
Ferroptosis as a Novel Therapeutic Target for Friedreich's Ataxia. |
Volume: |
369 |
Issue: |
1 |
Pages: |
47-54 |
|
•
•
•
•
•
|
Publication |
First Author: |
Fil D |
Year: |
2020 |
Journal: |
Dis Model Mech |
Title: |
Mitochondrial damage and senescence phenotype of cells derived from a novel frataxin G127V point mutation mouse model of Friedreich's ataxia. |
Volume: |
13 |
Issue: |
7 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Schultz R |
Year: |
2016 |
Journal: |
Invest Ophthalmol Vis Sci |
Title: |
Increased Frataxin Levels Protect Retinal Ganglion Cells After Acute Ischemia/Reperfusion in the Mouse Retina In Vivo. |
Volume: |
57 |
Issue: |
10 |
Pages: |
4115-24 |
|
•
•
•
•
•
|
Publication |
First Author: |
Al-Mahdawi S |
Year: |
2018 |
Journal: |
Front Cell Neurosci |
Title: |
Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare. |
Volume: |
12 |
|
Pages: |
443 |
|
•
•
•
•
•
|
Publication |
First Author: |
Muñoz-Lasso DC |
Year: |
2022 |
Journal: |
Front Mol Neurosci |
Title: |
Frataxin Deficit Leads to Reduced Dynamics of Growth Cones in Dorsal Root Ganglia Neurons of Friedreich's Ataxia YG8sR Model: A Multilinear Algebra Approach. |
Volume: |
15 |
|
Pages: |
912780 |
|
•
•
•
•
•
|
Publication |
First Author: |
Bouchard C |
Year: |
2023 |
Journal: |
Genes (Basel) |
Title: |
Finding an Appropriate Mouse Model to Study the Impact of a Treatment for Friedreich Ataxia on the Behavioral Phenotype. |
Volume: |
14 |
Issue: |
8 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Al-Mahdawi S |
Year: |
2004 |
Journal: |
Genomics |
Title: |
GAA repeat instability in Friedreich ataxia YAC transgenic mice. |
Volume: |
84 |
Issue: |
2 |
Pages: |
301-10 |
|
•
•
•
•
•
|
Publication |
First Author: |
Hayashi G |
Year: |
2014 |
Journal: |
Hum Mol Genet |
Title: |
Frataxin deficiency increases cyclooxygenase 2 and prostaglandins in cell and animal models of Friedreich's ataxia. |
Volume: |
23 |
Issue: |
25 |
Pages: |
6838-47 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
207
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Martelli A |
Year: |
2015 |
Journal: |
Cell Metab |
Title: |
Iron regulatory protein 1 sustains mitochondrial iron loading and function in frataxin deficiency. |
Volume: |
21 |
Issue: |
2 |
Pages: |
311-22 |
|
•
•
•
•
•
|
Publication |
First Author: |
Jones J |
Year: |
2013 |
Journal: |
PLoS One |
Title: |
Stem cells from wildtype and Friedreich's ataxia mice present similar neuroprotective properties in dorsal root ganglia cells. |
Volume: |
8 |
Issue: |
5 |
Pages: |
e62807 |
|
•
•
•
•
•
|
Publication |
First Author: |
Whitnall M |
Year: |
2008 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
The MCK mouse heart model of Friedreich's ataxia: Alterations in iron-regulated proteins and cardiac hypertrophy are limited by iron chelation. |
Volume: |
105 |
Issue: |
28 |
Pages: |
9757-62 |
|
•
•
•
•
•
|
Publication |
First Author: |
Fil D |
Year: |
2023 |
Journal: |
Neurobiol Dis |
Title: |
Neurobehavioral deficits of mice expressing a low level of G127V mutant frataxin. |
Volume: |
177 |
|
Pages: |
105996 |
|
•
•
•
•
•
|
Publication |
First Author: |
Stram AR |
Year: |
2017 |
Journal: |
PLoS One |
Title: |
Progressive mitochondrial protein lysine acetylation and heart failure in a model of Friedreich's ataxia cardiomyopathy. |
Volume: |
12 |
Issue: |
5 |
Pages: |
e0178354 |
|
•
•
•
•
•
|
Publication |
First Author: |
Oktay Y |
Year: |
2007 |
Journal: |
J Biol Chem |
Title: |
Hypoxia-inducible factor 2alpha regulates expression of the mitochondrial aconitase chaperone protein frataxin. |
Volume: |
282 |
Issue: |
16 |
Pages: |
11750-6 |
|
•
•
•
•
•
|
Publication |
First Author: |
Martelli A |
Year: |
2007 |
Journal: |
Hum Mol Genet |
Title: |
Frataxin is essential for extramitochondrial Fe-S cluster proteins in mammalian tissues. |
Volume: |
16 |
Issue: |
22 |
Pages: |
2651-8 |
|
•
•
•
•
•
|
Publication |
First Author: |
Roy AR |
Year: |
2018 |
Journal: |
J Biol Chem |
Title: |
The transcriptional regulator CCCTC-binding factor limits oxidative stress in endothelial cells. |
Volume: |
293 |
Issue: |
22 |
Pages: |
8449-8461 |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus caroli |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
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Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
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Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus pahari |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus spretus |
|
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•
•
•
•
|
Publication |
First Author: |
Koutnikova H |
Year: |
1997 |
Journal: |
Nat Genet |
Title: |
Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin. |
Volume: |
16 |
Issue: |
4 |
Pages: |
345-51 |
|
•
•
•
•
•
|
Publication |
First Author: |
Calmels N |
Year: |
2009 |
Journal: |
PLoS One |
Title: |
The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia. |
Volume: |
4 |
Issue: |
7 |
Pages: |
e6379 |
|
•
•
•
•
•
|
Publication |
First Author: |
Huang ML |
Year: |
2009 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Elucidation of the mechanism of mitochondrial iron loading in Friedreich's ataxia by analysis of a mouse mutant. |
Volume: |
106 |
Issue: |
38 |
Pages: |
16381-6 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ristow M |
Year: |
2003 |
Journal: |
J Clin Invest |
Title: |
Frataxin deficiency in pancreatic islets causes diabetes due to loss of beta cell mass. |
Volume: |
112 |
Issue: |
4 |
Pages: |
527-34 |
|
•
•
•
•
•
|
Publication |
First Author: |
Thierbach R |
Year: |
2005 |
Journal: |
Hum Mol Genet |
Title: |
Targeted disruption of hepatic frataxin expression causes impaired mitochondrial function, decreased life span and tumor growth in mice. |
Volume: |
14 |
Issue: |
24 |
Pages: |
3857-64 |
|
•
•
•
•
•
|
Publication |
First Author: |
Thierbach R |
Year: |
2012 |
Journal: |
Hum Mol Genet |
Title: |
Specific alterations of carbohydrate metabolism are associated with hepatocarcinogenesis in mitochondrially impaired mice. |
Volume: |
21 |
Issue: |
3 |
Pages: |
656-63 |
|
•
•
•
•
•
|
Publication |
First Author: |
Cossée M |
Year: |
2000 |
Journal: |
Hum Mol Genet |
Title: |
Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation. |
Volume: |
9 |
Issue: |
8 |
Pages: |
1219-26 |
|
•
•
•
•
•
|
Publication |
First Author: |
Coppola G |
Year: |
2006 |
Journal: |
Neurobiol Dis |
Title: |
Gene expression profiling in frataxin deficient mice: microarray evidence for significant expression changes without detectable neurodegeneration. |
Volume: |
22 |
Issue: |
2 |
Pages: |
302-11 |
|
•
•
•
•
•
|
Publication |
First Author: |
Sarsero JP |
Year: |
2004 |
Journal: |
Mamm Genome |
Title: |
Human BAC-mediated rescue of the Friedreich ataxia knockout mutation in transgenic mice. |
Volume: |
15 |
Issue: |
5 |
Pages: |
370-82 |
|
•
•
•
•
•
|
Publication |
First Author: |
Della Valle I |
Year: |
2024 |
Journal: |
Genes Dis |
Title: |
Loss of homeostatic functions in microglia from a murine model of Friedreich's ataxia. |
Volume: |
11 |
Issue: |
6 |
Pages: |
101178 |
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•
•
•
•
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