Results 121 to 130 of about 10,061 (229)

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

Discovery of a Novel Small Molecule Inhibitor Targeting the Frataxin/Ubiquitin Interaction via Structure-Based Virtual Screening and Bioassays [PDF]

, 2013
Friedreich ataxia (FRDA) is an autosomal recessive neuro- and cardiodegenerative disorder for which there are no proven effective treatments. FRDA is caused by decreased expression and/or function of the mitochondrial protein frataxin.
Cerchia C., Di Giovanni C., Lavecchia A., Novellino E., Russo Annapina, Russo Giulia   +5 more
core   +1 more source

An Exploration of Vitamin D Deficiency and Clinical Status in Friedreich's Ataxia Patients in the UK

Movement Disorders Clinical Practice, EarlyView.
Zofia Fleszar, Gilbert Thomas‐Black, Hector Garcia‐Moreno, Arron Cook, Paola Giunti   +4 more
wiley   +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

Analysis of a Modified Version of the Inventory of Non‐Ataxia Signs Over 12 Years in Patients with Friedreich's Ataxia in the EFACTS Study

Movement Disorders, Volume 41, Issue 1, Page 200-211, January 2026.
Abstract Background Friedreich's ataxia is a rare, neurodegenerative, multisystem disorder. While ataxia is a hallmark, non‐ataxia signs, including muscle weakness, spasticity, and dysphagia are equally disabling. The Inventory of Non‐Ataxia Signs (INAS) is a symptom list transformable to a 16‐item count.
Stella Andrea Lischewski, Imis Dogan, Paola Giunti, Michael H. Parkinson, Caterina Mariotti, Alexandra Durr, Claire Ewenczyk, Sylvia Boesch, Wolfgang Nachbauer, Thomas Klopstock, Claudia Stendel, Francisco Javier Rodríguez de Rivera Garrido, Ludger Schöls, Zofia Fleszar, Thomas Klockgether, Marcus Grobe‐Einsler, Ilaria Giordano, Myriam Rai, Massimo Pandolfo, Heike Jacobi, Ralf‐Dieter Hilgers, Jörg B. Schulz, Kathrin Reetz, on behalf of the EFACTS Study Group, Elisabetta Indelicato, Matthias Amprosi, Cinzia Gellera, Alessia Mongelli, Anna Castaldo, Mario Fichera, Enrico Bertini, Gessica Vasco, Marie Biet, Marie Lorraine Monin, Florian Holtbernd, Nikolina Brcina, Christian Hohenfeld, Florentine Radelfahr, Almut T. Bischoff, Stefanie N. Hayer, Georgios Koutsis, Marianthi Breza, Francesc Palau, Mar O'Callaghan, Gilbert Thomas‐Black, Katarina Manso, Nita Solanky, Robyn Labrum   +47 more
wiley   +1 more source

Ancestral roles of eukaryotic frataxin: mitochondrial frataxin function and heterologous expression of hydrogenosomal Trichomonas homologues in trypanosomes [PDF]

Molecular Microbiology, 2008
SummaryFrataxin is a small conserved mitochondrial protein; in humans, mutations affecting frataxin expression or function result in Friedreich's ataxia. Much of the current understanding of frataxin function comes from informative studies with yeast models, but considerable debates remain with regard to the primary functions of this ubiquitous protein.
Long, Shaojun, Jirku, Milan, Mach, Jan, Ginger, Michael L., Sutak, Robert, Richardson, Des, Tachezy, Jan, Lukes, Julius   +7 more
openaire   +2 more sources

Research Progress on Idebenone in Neurodegenerative Diseases

AGING MEDICINE, Volume 8, Issue 6, Page 624-633, December 2025.
The study not only summarizes the biological properties of Idebenone (IDE), including its role in improving mitochondrial function and antioxidative stress, but also explores its clinical research progress in various neurodegenerative diseases, providing a new perspective for the treatment of these disorders.
Yanqing Zhang, Yanhong Ren, Xiaoran Zhu, Tianhao Liu, Rundong Han, Yuqing Fang, Zhangning Zhao, Fei Mao, Yalin Wang, Xian Li, Xiuhua Li   +10 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

Frataxin gene editing rescues Friedreich’s ataxia pathology in dorsal root ganglia organoid-derived sensory neurons

Nature Communications, 2020
Friedreich’s ataxia (FRDA) is an autosomal-recessive neurodegenerative and cardiac disorder which occurs when transcription of the FXN gene is silenced due to an excessive expansion of GAA repeats into its first intron.
P. Mazzara, S. Muggeo, Mirko Luoni, Luca Massimino, Mattia Zaghi, Parisa Tajalli-Tehrani Valverde, S. Brusco, M. Marzi, C. Palma, G. Colasante, A. Iannielli, M. Paulis, C. Cordiglieri, S. Giannelli, P. Podini, C. Gellera, F. Taroni, F. Nicassio, M. Rasponi, V. Broccoli   +19 more
semanticscholar   +1 more source

Mammalian frataxin directly enhances sulfur transfer of NFS1 persulfide to both ISCU and free thiols [PDF]

, 2014
Friedreich's ataxia is a severe neurodegenerative disease caused by the decreased expression of frataxin, a mitochondrial protein that stimulates iron sulfur (Fe-S) cluster biogenesis.
Belot, Laura, Cornu, David, D'Autréaux, Benoit, Elduque Busquets, Xavier, Grandas Sagarra, Anna, Le Caer, Jean-Pierre, Parent, Aubérie, Toledano, Michel B.   +7 more
core   +2 more sources