Results 61 to 70 of about 389 (134)

Multimodal Imaging Investigation of the Dentato‐Thalamo‐Cortical Pathway in Friedreich's Ataxia

Movement Disorders, Volume 41, Issue 4, Page 909-920, April 2026.
Abstract Background Friedreich's ataxia (FRDA) is a spinocerebellar neurodegenerative disorder. The dentato‐thalamo‐cortical (DTC) pathway, an important cerebellar output involved in motor control, plays a crucial role in the neural mechanisms underlying ataxia symptoms in FRDA.
Yinghua Jing, Imis Dogan, Ravi Dadsena, Jennifer Faber, Jörg B. Schulz, Kathrin Reetz, Sandro Romanzetti, on behalf of the FACROSS study group, Stella A. Lischewski, Kerstin Konrad, Miguel Pishnamaz, Maximillian Praster, Thomas Clavel, Vera Jankowski, Joachim Jankowski, Oliver Pabst, Katharina Marx‐Schütt, Nikolaus Marx, Julia Möllmann, Malte Jacobsen, Juergen Dukart, Simon Eickhoff, Ralf‐Dieter Hilgers   +22 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

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

Movement Disorders Clinical Practice, Volume 13, Issue 7, Page 1788-1789, July 2026.
Zofia Fleszar, Gilbert Thomas‐Black, Hector Garcia‐Moreno, Arron Cook, Paola Giunti   +4 more
wiley   +1 more source

Clinical, Genetic, and Imaging Characteristics of SCA27B: Insights from a Large Dutch Cohort

Movement Disorders, Volume 41, Issue 4, Page 928-936, April 2026.
Abstract Background Deep intronic GAA repeat expansions in intron 1 of the FGF14 gene were identified in 2023 as cause of late‐onset cerebellar ataxia. Since then, GAA‐FGF14‐related ataxia (SCA27B) has emerged as one of the most common genetic causes of late‐onset cerebellar ataxia.
Teije H. van Prooije, Maartje Pennings, Roderick P.P.W.M. Maas, Jeroen de Vries, Corien Verschuuren‐Bemelmans, Vincent Odekerken, Sirwan K.L. Darweesh, Mark Huisman, Mayke Oosterloo, Arthur Buijink, Jaron van de Wardt, Els Vanhoutte, Tsz Hang Wong, Lisette Koens, Eva de Boer, Judith van Gaalen, Martijn Beudel, Dareia S. Roos, Jorrit I. Hoff, Thimo Cornelissen, Meyke Schouten, Thatjana Gardeichik, Erica van der Looij, Christine Klein, Joanne Trinh, Erik‐Jan Kamsteeg, Bart van de Warrenburg   +26 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

Delivery of the 135 kb human frataxin genomic DNA locus gives rise to different frataxin isoforms

Genomics, 2015
Friedreich's ataxia (FRDA) is the most common form of hereditary ataxia caused by recessive mutations in the FXN gene. Recent results have indicated the presence of different frataxin isoforms due to alternative gene expression mechanisms. Our previous studies demonstrated the advantages of using high-capacity herpes simplex virus type 1 (HSV-1 ...
Pérez-Luz, S., Giménez-Cassina, Alfredo, Fernández-Frias, I., Wade-Martins, R., Díaz-Nido, Javier   +4 more
openaire   +3 more sources

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