Results 81 to 90 of about 3,918 (176)

Mitochondrial Transplantation as a Therapeutic Strategy for Inherited Mitochondrial Diseases

Advanced Science, Volume 13, Issue 11, 23 February 2026.
Mitochondrial transplantation (MTx) offers a promising therapeutic avenue for mitochondrial diseases. This review comprehensively evaluates MTx, differentiating its feasibility for mtDNA‐ and nDNA‐based disorders. It examines its potential for genetic correction, alongside inherent limitations, technical challenges, and crucial ethical considerations ...
Parmeshar Singh, Amir Tahavvori, Cyrus E. Kuschner, Blanca B. Espin, Jacob Kazmi, Sofhia V. Ramos, Tai Yin, Kei Hayashida, Kanako Ito‐Hagiwara, Yusuke Endo, Keitaro Yoshioka, Jun Hagiwara, Avijot Sohi, Alisha Oropallo, Ghania Haddad, Timmy Li, Lance B. Becker, Junhwan Kim   +17 more
wiley   +1 more source

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

Disease Models & Mechanisms, 2018
The neurodegenerative disease Friedreich's ataxia is caused by lower than normal levels of frataxin, an important protein involved in iron–sulfur (Fe-S) cluster biogenesis.
Tommaso Vannocci, Roberto Notario Manzano, Ombretta Beccalli, Barbara Bettegazzi, Fabio Grohovaz, Gianfelice Cinque, Antonio de Riso, Luca Quaroni, Franca Codazzi, Annalisa Pastore   +9 more
doaj   +1 more source

Distinct Roles of Cerebellar Afferent and Efferent Fiber Tracts in Craniocervical Dystonia

Movement Disorders, Volume 41, Issue 2, Page 384-394, February 2026.
Abstract Background The cerebellum has been widely implicated in the pathogenesis of craniocervical dystonia (CCD). Subthalamic nucleus deep brain stimulation (STN‐DBS) has emerged as an effective therapy for CCD. However, the roles of cerebellar afferent and efferent pathways in CCD pathogenesis and STN‐DBS treatment remain poorly understood ...
Bin Liu, Wenjie Li, Yanyang Zhang, Tao Yu, Zaixu Cui, Xiaoyu Xu, Junpeng Xu, Xin Chen, Jingyu Feng, Zhiqi Mao, Jun Yang   +10 more
wiley   +1 more source

Frataxin knockdown in human astrocytes triggers cell death and the release of factors that cause neuronal toxicity

Neurobiology of Disease, 2015
Friedreich's ataxia (FA) is a recessive, predominantly neurodegenerative disorder caused in most cases by mutations in the first intron of the frataxin (FXN) gene.
Frida Loría, Javier Díaz-Nido
doaj   +1 more source

Genetic variations creating microRNA target sites in the FXN 3'-UTR affect frataxin expression in Friedreich ataxia.

PLoS ONE, 2013
Friedreich's ataxia (FRDA) is a severe neurodegenerative disease caused by GAA repeat expansion within the first intron of the frataxin gene. It has been suggested that the repeat is responsible for the disease severity due to impaired transcription ...
Simonetta Bandiera, François Cartault, Anne-Sophie Jannot, Elie Hatem, Muriel Girard, Laila Rifai, Clemence Loiseau, Arnold Munnich, Stanislas Lyonnet, Alexandra Henrion-Caude   +9 more
doaj   +1 more source

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

BMC Neurology, 2009
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,
Haiech Jacques, Hibert Marcel, Reutenauer Laurence, Villa Pascal, Seznec Hervé, Calmels Nadège, Rustin Pierre, Koenig Michel, Puccio Hélène   +8 more
doaj   +1 more source

Flavin adenine dinucleotide rescues the phenotype of frataxin deficiency.

PLoS ONE, 2010
BackgroundFriedreich ataxia is a neurodegenerative disease caused by the lack of frataxin, a mitochondrial protein. We previously demonstrated that frataxin interacts with complex II subunits of the electronic transport chain (ETC) and putative ...
Pilar Gonzalez-Cabo, Sheila Ros, Francesc Palau   +2 more
doaj   +1 more source

Time-resolved functional analysis of acute impairment of frataxin expression in an inducible cell model of Friedreich ataxia

Biology Open, 2016
Friedreich ataxia is a neurodegenerative disease caused by a GAA triplet repeat expansion in the first intron of the frataxin gene, which results in reduced expression levels of the corresponding protein.
Dörte Poburski, Josefine Barbara Boerner, Michel Koenig, Michael Ristow, René Thierbach   +4 more
doaj   +1 more source

Anti-gene oligonucleotides targeting Friedreich’s ataxia expanded GAA⋅TTC repeats increase Frataxin expression

Molecular Therapy: Nucleic Acids
Friedreich’s ataxia is a progressive, autosomal recessive ataxia caused, in most cases, by homozygous expansion of GAA⋅TTC triplet-repeats in the first intron of the Frataxin gene.
Negin Mozafari, Salomé Milagres, Tea Umek, Cristina S.J. Rocha, Claudia M. Vargiu, Fiona Freyberger, Osama Saher, Marek Napierala, Jill S. Napierala, Pontus Blomberg, Per T. Jørgensen, Tanel Punga, C. I. Edvard Smith, Jesper Wengel, Rula Zain   +14 more
doaj   +1 more source

Turning Escherichia coli into a Frataxin-Dependent Organism

PLOS Genetics, 2015
Fe-S bound proteins are ubiquitous and contribute to most basic cellular processes. A defect in the ISC components catalyzing Fe-S cluster biogenesis leads to drastic phenotypes in both eukaryotes and prokaryotes. In this context, the Frataxin protein (FXN) stands out as an exception.
Roche, Béatrice, Agrebi, Rym, Huguenot, Allison, Ollagnier de Choudens, Sandrine, Barras, Frédéric, Py, Béatrice, Casadesús, Josep   +6 more
openaire   +6 more sources