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Keywords: Friedreich's ataxia
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Journal Articles

Robust behavioral assessment of the inducible Friedreich's ataxia mouse does not show improvement with NRF2 induction

Open Access
In collection:
Neurodegenerative Disorders , Rare Disease Translational Research
Claire B. Montgomery, Lili Salinas, Garrett P. Cox, Lauren E. Adcock, Tiffany Chang, Francisco Figueroa, Gino Cortopassi, Elena N. Dedkova
Journal: Disease Models & Mechanisms
Dis Model Mech (2025) 18 (3): dmm052128.
https://doi.org/10.1242/dmm.052128
Published: 2 April 2025
...Claire B. Montgomery; Lili Salinas; Garrett P. Cox; Lauren E. Adcock; Tiffany Chang; Francisco Figueroa; Gino Cortopassi; Elena N. Dedkova ABSTRACT Friedreich's ataxia, a recessive disorder caused by a mutation in the frataxin ( FXN ) gene, has few mouse models that demonstrate a progressive...
View articletitled, Robust behavioral assessment of the inducible Friedreich's ataxia mouse does not show improvement with NRF2 induction
Open the PDF for Robust behavioral assessment of the inducible Friedreich's ataxia mouse does not show improvement with NRF2 induction in another window
Includes: Supplementary data
Journal Articles

Mitochondrial damage and senescence phenotype of cells derived from a novel frataxin G127V point mutation mouse model of Friedreich's ataxia

Open Access
In collection:
Neurodegenerative Disorders
Daniel Fil, Balu K. Chacko, Robbie Conley, Xiaosen Ouyang, Jianhua Zhang, Victor M. Darley-Usmar, Aamir R. Zuberi, Cathleen M. Lutz, Marek Napierala, Jill S. Napierala
Journal: Disease Models & Mechanisms
Dis Model Mech (2020) 13 (7): dmm045229.
https://doi.org/10.1242/dmm.045229
Published: 27 July 2020
...Daniel Fil; Balu K. Chacko; Robbie Conley; Xiaosen Ouyang; Jianhua Zhang; Victor M. Darley-Usmar; Aamir R. Zuberi; Cathleen M. Lutz; Marek Napierala; Jill S. Napierala ABSTRACT Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disease caused by reduced expression...
View articletitled, Mitochondrial damage and senescence phenotype of cells derived from a novel frataxin G127V point mutation mouse model of Friedreich's ataxia
Open the PDF for Mitochondrial damage and senescence phenotype of cells derived from a novel frataxin G127V point mutation mouse model of Friedreich's ataxia in another window
Includes: Supplementary data
Journal Articles

Identification of cardioprotective drugs by medium-scale in vivo pharmacological screening on a Drosophila cardiac model of Friedreich's ataxia

Open Access
In collection:
Drosophila as a Disease Model , Neurodegenerative Disorders
Amandine Palandri, Elodie Martin, Maria Russi, Michael Rera, Hervé Tricoire, Véronique Monnier
Journal: Disease Models & Mechanisms
Dis Model Mech (2018) 11 (7): dmm033811.
https://doi.org/10.1242/dmm.033811
Published: 20 July 2018
...Amandine Palandri; Elodie Martin; Maria Russi; Michael Rera; Hervé Tricoire; Véronique Monnier ABSTRACT Friedreich's ataxia (FA) is caused by reduced levels of frataxin, a highly conserved mitochondrial protein. There is currently no effective treatment for this disease, which is characterized...
View articletitled, Identification of cardioprotective drugs by medium-scale in vivo pharmacological screening on a Drosophila cardiac model of Friedreich's ataxia
Open the PDF for Identification of cardioprotective drugs by medium-scale in vivo pharmacological screening on a Drosophila cardiac model of Friedreich's ataxia in another window
Includes: Supplementary data
Journal Articles

Adding a temporal dimension to the study of Friedreich's ataxia: the effect of frataxin overexpression in a human cell model

Open Access
Tommaso Vannocci, Roberto Notario Manzano, Ombretta Beccalli, Barbara Bettegazzi, Fabio Grohovaz, Gianfelice Cinque, Antonio de Riso, Luca Quaroni, Franca Codazzi, Annalisa Pastore
Journal: Disease Models & Mechanisms
Dis Model Mech (2018) 11 (6): dmm032706.
https://doi.org/10.1242/dmm.032706
Published: 25 June 2018
...Tommaso Vannocci; Roberto Notario Manzano; Ombretta Beccalli; Barbara Bettegazzi; Fabio Grohovaz; Gianfelice Cinque; Antonio de Riso; Luca Quaroni; Franca Codazzi; Annalisa Pastore ABSTRACT The neurodegenerative disease Friedreich's ataxia is caused by lower than normal levels of frataxin...
View articletitled, Adding a temporal dimension to the study of Friedreich's ataxia: the effect of frataxin overexpression in a human cell model
Open the PDF for Adding a temporal dimension to the study of Friedreich's ataxia: the effect of frataxin overexpression in a human cell model in another window
Includes: Supplementary data
Journal Articles

Comprehensive analysis of gene expression patterns in Friedreich's ataxia fibroblasts by RNA sequencing reveals altered levels of protein synthesis factors and solute carriers

Open Access
In collection:
Neurodegenerative Disorders
Jill Sergesketter Napierala, Yanjie Li, Yue Lu, Kevin Lin, Lauren A. Hauser, David R. Lynch, Marek Napierala
Journal: Disease Models & Mechanisms
Dis Model Mech (2017) 10 (11): 1353–1369.
https://doi.org/10.1242/dmm.030536
Published: 1 November 2017
...Jill Sergesketter Napierala; Yanjie Li; Yue Lu; Kevin Lin; Lauren A. Hauser; David R. Lynch; Marek Napierala ABSTRACT Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disease usually caused by large homozygous expansions of GAA repeat sequences in intron 1 of the frataxin...
View articletitled, Comprehensive analysis of gene expression patterns in Friedreich's ataxia fibroblasts by RNA sequencing reveals altered levels of protein synthesis factors and solute carriers
Open the PDF for Comprehensive analysis of gene expression patterns in Friedreich's ataxia fibroblasts by RNA sequencing reveals altered levels of protein synthesis factors and solute carriers in another window
Includes: Supplementary data
Journal Articles

Two different pathogenic mechanisms, dying-back axonal neuropathy and pancreatic senescence, are present in the YG8R mouse model of Friedreich’s ataxia

Open Access
In collection:
Neurodegenerative Disorders
Belén Mollá, Fátima Riveiro, Arantxa Bolinches-Amorós, Diana C. Muñoz-Lasso, Francesc Palau, Pilar González-Cabo
Journal: Disease Models & Mechanisms
Dis Model Mech (2016) 9 (6): 647–657.
https://doi.org/10.1242/dmm.024273
Published: 1 June 2016
...Belén Mollá; Fátima Riveiro; Arantxa Bolinches-Amorós; Diana C. Muñoz-Lasso; Francesc Palau; Pilar González-Cabo ABSTRACT Frataxin (FXN) deficiency causes Friedreich’s ataxia (FRDA), a multisystem disorder with neurological and non-neurological symptoms. FRDA pathophysiology combines developmental...
View articletitled, Two different pathogenic mechanisms, dying-back axonal neuropathy and pancreatic senescence, are present in the YG8R mouse model of Friedreich’s ataxia
Open the PDF for Two different pathogenic mechanisms, dying-back axonal neuropathy and pancreatic senescence, are present in the YG8R mouse model of Friedreich’s ataxia in another window
Includes: Supplementary data
Journal Articles

A novel GAA-repeat-expansion-based mouse model of Friedreich’s ataxia

Open Access
Sara Anjomani Virmouni, Vahid Ezzatizadeh, Chiranjeevi Sandi, Madhavi Sandi, Sahar Al-Mahdawi, Yogesh Chutake, Mark A. Pook
Journal: Disease Models & Mechanisms
Dis Model Mech (2015) 8 (3): 225–235.
https://doi.org/10.1242/dmm.018952
Published: 1 March 2015
...Sara Anjomani Virmouni; Vahid Ezzatizadeh; Chiranjeevi Sandi; Madhavi Sandi; Sahar Al-Mahdawi; Yogesh Chutake; Mark A. Pook Friedreich’s ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by a GAA repeat expansion mutation within intron 1 of the FXN gene, resulting in reduced...
View articletitled, A novel GAA-repeat-expansion-based mouse model of Friedreich’s ataxia
Open the PDF for A novel GAA-repeat-expansion-based mouse model of Friedreich’s ataxia in another window
Includes: Supplementary data