Results 101 to 110 of about 6,668 (188)

Frataxin (FXN; FRDA) [PDF]

Science-Business eXchange, 2014
openaire   +1 more source

Death of control, FRDA and FAD patient cells induced by bixafen.

, 2019
A, Control cells were allowed to grow (n = 3) in either GlucoMax or MitoMax culture medium, which are permissive or nonpermissive for defective mitochondria (see Table 2), respectively, in the absence or presence of 0.5 μM or 1 μM bixafen.
Paule Bénit (53902), Malgorzata Rak (104870), Dominique Chretien (7832408), Manuel Schiff (337671), Pierre Rustin (53906), Laurence Huc (2401738), Pierre Gressens (104878), Sylvie Bortoli (7832411), Agathe Kahn (7832405), Anne-Paule Gimenez-Roqueplo (75862), Judith Favier (78711)   +10 more
core   +1 more source

Fronto-cerebellar dysfunction and dysconnectivity underlying cognition in friedreich ataxia: The IMAGE-FRDA study.

Human brain mapping, 2016
Friedreich ataxia (FRDA) is a progressive neurodegenerative disorder defined by pathology within the cerebellum and spinal tracts. Although FRDA is most readily linked to motor and sensory dysfunctions, reported impairments in working memory and executive functions indicate that abnormalities may also extend to associations regions of the cerebral ...
Harding, Ian H., Corben, Louise A., Storey, Elsdon, Egan, Gary F., Stagnitti, Monique R., Poudel, Govinda, Delatycki, Martin B., Georgiou-Karistianis, Nellie   +7 more
openaire   +3 more sources

DataSheet1_A peptide derived from TID1S rescues frataxin deficiency and mitochondrial defects in FRDA cellular models.docx

Friedreich’s ataxia (FRDA), the most common recessive inherited ataxia, results from homozygous guanine–adenine–adenine (GAA) repeat expansions in intron 1 of the FXN gene, which leads to the deficiency of frataxin, a mitochondrial protein essential for ...
Johnathan Wong (5514425), Lucie Vanessa Ngaba (18080842), Nathan Warren (8377479), Yi Na Dong (12283178), David R. Lynch (11753438), Jacob An (18080845), Miniat W. Adeshina (18080848)   +6 more
core   +1 more source

Combining multiple therapeutic strategies for Friedreich’s ataxia (FRDA): antioxidant metallic nanoclusters as coadjuvants for gene and stem cell therapy

, 2017
Introduction FRDA pathology is caused by guanine–adenine–adenine trinucleotide repeat expansion within the first intron of frataxin (FTX) gene, leading to epigenetic silencing.
S. Erratico, S. Banfi, Y. Torrente, C. Villa, M. Belicchi, M. Meregalli   +5 more
core  

FXN protomutations are the source of pathogenic expanded GAA alleles in Friedreich ataxia and explain its unequal population distribution. [PDF]

Hum Mol Genet
Devore MC, Lam C, Xiao E, Devore J, McCain KRC, Wiley G, Park CC, Lynch DR, Bidichandani SI.   +8 more
europepmc   +1 more source

Validation of circulating miR-323a-3p and miR-625-3p to classify hypertrophic cardiomyopathy in Friedreich's ataxia. [PDF]

Sci Rep
Ibáñez-Cabellos JS, Baviera-Muñoz R, Alemany-Perna B, Sivera R, Bataller L, Cesar S, González-Cabo P, García-Giménez JL, Pallardó FV, Seco-Cervera M.   +9 more
europepmc   +1 more source

Recent developments in Friedreich's ataxia: a state-of-the-art review. [PDF]

Brain Commun
Chapman LR, Mortiboys H, Shaw PJ.
europepmc   +1 more source

Nomlabofusp Treatment Produces Frataxin Levels That Correlate Across Peripheral Tissues: Preclinical and Clinical Support for Surrogate Tissue Sampling. [PDF]

Clin Transl Sci
De Toni F, Hamdani M, Patadia C, Shankar G.   +3 more
europepmc   +1 more source

Listening in Spatialized Noise-Sentences (LiSN-S) as a Measure of Auditory Function in Friedreich Ataxia. [PDF]

Cerebellum
Ali SAH, Early J, Farmer JM, Gelbard S, Corben L, Rance G, Lynch DR.   +6 more
europepmc   +1 more source