Cargando…

Limitations in a frataxin knockdown cell model for Friedreich ataxia in a high-throughput drug screen

BACKGROUND: Pharmacological high-throughput screening (HTS) represents a powerful strategy for drug discovery in genetic diseases, particularly when the full spectrum of pathological dysfunctions remains unclear, such as in Friedreich ataxia (FRDA). FRDA, the most common recessive ataxia, results fr...

Descripción completa

Detalles Bibliográficos
Autores principales:	Calmels, Nadège, Seznec, Hervé, Villa, Pascal, Reutenauer, Laurence, Hibert, Marcel, Haiech, Jacques, Rustin, Pierre, Koenig, Michel, Puccio, Hélène
Formato:	Texto
Lenguaje:	English
Publicado:	BioMed Central 2009
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2744904/ https://www.ncbi.nlm.nih.gov/pubmed/19703283 http://dx.doi.org/10.1186/1471-2377-9-46

Ejemplares similares

The First Cellular Models Based on Frataxin Missense Mutations That Reproduce Spontaneously the Defects Associated with Friedreich Ataxia
por: Calmels, Nadège, et al.
Publicado: (2009)

Frataxin levels in peripheral tissue in Friedreich ataxia
por: Lazaropoulos, Michael, et al.
Publicado: (2015)

Friedreich's Ataxia, Frataxin, PIP5K1B: Echo of a Distant Fracas
por: Bayot, Aurélien, et al.
Publicado: (2013)

Posttranslational regulation of mitochondrial frataxin and identification of compounds that increase frataxin levels in Friedreich’s ataxia
por: Hackett, Peter T., et al.
Publicado: (2022)

Neurodegeneration in Friedreich's Ataxia: From Defective Frataxin to Oxidative Stress
por: Gomes, Cláudio M., et al.
Publicado: (2013)

Selected missense mutations impair frataxin processing in Friedreich ataxia
Publicado: (2017)

Selected missense mutations impair frataxin processing in Friedreich ataxia
por: Clark, Elisia, et al.
Publicado: (2017)

Simultaneous Quantification of Mitochondrial Mature Frataxin and Extra-Mitochondrial Frataxin Isoform E in Friedreich’s Ataxia Blood
por: Wang, Qingqing, et al.
Publicado: (2022)

Iron-dependent regulation of frataxin expression: implications for treatment of Friedreich ataxia
por: Li, Kuanyu, et al.
Publicado: (2008)

Novel Frataxin Isoforms May Contribute to the Pathological Mechanism of Friedreich Ataxia
por: Xia, Haiyan, et al.
Publicado: (2012)

Novel Point Mutations in Frataxin Gene in Iranian Patients with Friedreich’s Ataxia
por: HEIDARI, Mohammad Mehdi, et al.
Publicado: (2014)

DNA methylation in Friedreich ataxia silences expression of frataxin isoform E
por: Rodden, Layne N., et al.
Publicado: (2022)

High Levels of Frataxin Overexpression Lead to Mitochondrial and Cardiac Toxicity in Mouse Models
por: Belbellaa, Brahim, et al.
Publicado: (2020)

Time-resolved functional analysis of acute impairment of frataxin expression in an inducible cell model of Friedreich ataxia
por: Poburski, Dörte, et al.
Publicado: (2016)

HDAC Inhibitors Correct Frataxin Deficiency in a Friedreich Ataxia Mouse Model
por: Rai, Myriam, et al.
Publicado: (2008)

Development of Frataxin Gene Expression Measures for the Evaluation of Experimental Treatments in Friedreich’s Ataxia
por: Plasterer, Heather L., et al.
Publicado: (2013)

Extra-mitochondrial mouse frataxin and its implications for mouse models of Friedreich’s ataxia
por: Weng, Liwei, et al.
Publicado: (2020)

Interferon gamma upregulates frataxin and corrects the functional deficits in a Friedreich ataxia model
por: Tomassini, Barbara, et al.
Publicado: (2012)

The Friedreich's ataxia protein frataxin modulates DNA base excision repair in prokaryotes and mammals
por: Thierbach, René, et al.
Publicado: (2010)

Frataxin deficiency increases cyclooxygenase 2 and prostaglandins in cell and animal models of Friedreich's ataxia
por: Hayashi, Genki, et al.
Publicado: (2014)

Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia
por: Sahdeo, Sunil, et al.
Publicado: (2014)

Frataxin deficiency alters gene expression in Friedreich ataxia derived IPSC‐neurons and cardiomyocytes
por: Angulo, Mariana B., et al.
Publicado: (2022)

Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia
por: Greene, Eriko, et al.
Publicado: (2007)

A Potential New Therapeutic Approach for Friedreich Ataxia: Induction of Frataxin Expression With TALE Proteins
por: Chapdelaine, Pierre, et al.
Publicado: (2013)

Low apolipoprotein A-I levels in Friedreich’s ataxia and in frataxin-deficient cells: Implications for therapy
por: Wang, QingQing, et al.
Publicado: (2018)

Frataxin‐deficient neurons and mice models of Friedreich ataxia are improved by TAT‐MTScs‐FXN treatment
por: Britti, Elena, et al.
Publicado: (2017)

Dimethyl fumarate dosing in humans increases frataxin expression: A potential therapy for Friedreich’s Ataxia
por: Jasoliya, Mittal, et al.
Publicado: (2019)

Role of frataxin protein deficiency and metabolic dysfunction in Friedreich ataxia, an autosomal recessive mitochondrial disease
por: Clark, Elisia, et al.
Publicado: (2018)

Recent Advances in the Elucidation of Frataxin Biochemical Function Open Novel Perspectives for the Treatment of Friedreich’s Ataxia
por: Monfort, Beata, et al.
Publicado: (2022)

Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich’s ataxia
por: Martelli, Alain, et al.
Publicado: (2012)

Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich’s ataxia
por: Hick, Aurore, et al.
Publicado: (2013)

Friedreich's ataxia: the vicious circle hypothesis revisited
por: Bayot, Aurélien, et al.
Publicado: (2011)

An AAV9 coding for frataxin clearly improved the symptoms and prolonged the life of Friedreich ataxia mouse models
por: Gérard, Catherine, et al.
Publicado: (2014)

Peptide SS-31 upregulates frataxin expression and improves the quality of mitochondria: implications in the treatment of Friedreich ataxia
por: Zhao, Hongting, et al.
Publicado: (2017)

Deferiprone targets aconitase: Implication for Friedreich's ataxia treatment
por: Goncalves, Sergio, et al.
Publicado: (2008)

Mesenchymal Stem Cells Restore Frataxin Expression and Increase Hydrogen Peroxide Scavenging Enzymes in Friedreich Ataxia Fibroblasts
por: Kemp, Kevin, et al.
Publicado: (2011)

Lentivirus-meditated frataxin gene delivery reverses genome instability in Friedreich ataxia patient and mouse model fibroblasts
por: Khonsari, H, et al.
Publicado: (2016)

Adding a temporal dimension to the study of Friedreich's ataxia: the effect of frataxin overexpression in a human cell model
por: Vannocci, Tommaso, et al.
Publicado: (2018)

Frataxin gene editing rescues Friedreich’s ataxia pathology in dorsal root ganglia organoid-derived sensory neurons
por: Mazzara, Pietro Giuseppe, et al.
Publicado: (2020)

SINEUP non-coding RNAs rescue defective frataxin expression and activity in a cellular model of Friedreich's Ataxia
por: Bon, Carlotta, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_6fgs5ip1h0panekdnlapggd7bh