Results 91 to 100 of about 10,061 (229)

Increased Frataxin Expression Induced in Friedreich Ataxia Cells by Platinum TALE-VP64s or Platinum TALE-SunTag

Molecular Therapy: Nucleic Acids, 2018
Frataxin gene (FXN) expression is reduced in Friedreich’s ataxia patients due to an increase in the number of GAA trinucleotides in intron 1. The frataxin protein, encoded by that gene, plays an important role in mitochondria’s iron metabolism.
Khadija Cherif, Catherine Gérard, Joël Rousseau, Dominique L. Ouellet, Pierre Chapdelaine, Jacques P. Tremblay   +5 more
doaj   +1 more source

Macrophage polarization impacts tunneling nanotube formation and intercellular organelle trafficking. [PDF]

, 2019
Tunneling nanotubes (TNTs) are cellular extensions enabling cytosol-to-cytosol intercellular interaction between numerous cell types including macrophages.
Cherqui, Stephanie, Goodman, Spencer, Khan, Meisha, Naphade, Swati, Sharma, Jay   +4 more
core   +1 more source

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

Movement Disorders, EarlyView.
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

Molecular Details of the Frataxin–Scaffold Interaction during Mitochondrial Fe–S Cluster Assembly

International Journal of Molecular Sciences, 2021
Iron–sulfur clusters are essential to almost every life form and utilized for their unique structural and redox-targeted activities within cells during many cellular pathways.
C. Campbell, Ashley E. Pall, A. Naik, Lindsey Thompson, Timothy L. Stemmler   +4 more
semanticscholar   +1 more source

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

Movement Disorders, EarlyView.
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, Iron–Sulfur Clusters, Heme, ROS, and Aging [PDF]

Antioxidants & Redox Signaling, 2006
A deficiency in mitochondrial frataxin causes an increased generation of mitochondrial reactive oxygen species (ROS), which may contribute to the cell degenerative features of Friedreich's ataxia. In this work the authors demonstrate mitochondrial iron-sulfur cluster (ISC) defects and mitochondrial heme defects, and suggest how both may contribute to ...
Eleonora, Napoli, Franco, Taroni, Gino A, Cortopassi   +2 more
openaire   +2 more sources

Frataxin Shows Developmentally Regulated Tissue-Specific Expression in the Mouse Embryo

Neurobiology of Disease, 1997
Friedreich ataxia (FRDA) is an autosomal recessive degenerative disease caused either by an intronic GAA triplet repeat expansion that suppresses the expression of the frataxin gene on chromosome 9q13, or, rarely, by point mutations in the frataxin gene.
Sarn Jiralerspong, Yanling Liu, Laura Montermini, Stefano Stifani, Massimo Pandolfo   +4 more
doaj   +1 more source

Lentivirus-meditated frataxin gene delivery reverses genome instability in Friedreich ataxia patient and mouse model fibroblasts [PDF]

, 2016
Friedreich ataxia (FRDA) is a progressive neurodegenerative disease caused by deficiency of frataxin protein, with the primary sites of pathology being the large sensory neurons of the dorsal root ganglia and the cerebellum.
A Celeste, A Ciccia, A Martelli, A Nowrouzi, A Wong, AC Haugen, AH Koeppen, C Demaison, C Parris, C Sandi, C Sandi, CJ Miranda, E Riballo, EC Bourton, EC Bourton, EC Deutsch, EP Rogakou, F Herbst, G Karthikeyan, G Karthikeyan, GM Palomo, GN Pitiyage, H Khonsari, HJ Evans, I Guccini, J Fleming, JA Navarro, JV Llorens, M A Pook, M Pandolfo, M Pandolfo, M Perdomini, M Schneider, M Themis, M Themis, M Themis, MA Selak, MB Delatycki, ML Jauslin, NJ Ward, O Gakh, PD Lewis, R Lodi, R Shimizu, R Thierbach, R Zufferey, RM Payne, S Al-Mahdawi, S Anjomani Virmouni, S Chamberlain, S Chamberlain, S Charrier, S Negrini, S Schmucker, SK Greenwood, T Dull, TE Richardson, TE Richardson, TJ Schulz, TM Marti, U Blomer, V Campuzano, V Campuzano, V Valdiglesias, Y G Chianea, Y Shan, Y Shen   +66 more
core   +1 more source

Coenzyme A mitigates cystine‐deprivation‐induced ferroptosis by suppressing the iron‐starvation response

The FEBS Journal, EarlyView.
Cystine (Cys2) deprivation in pancreatic cancer cells induces oxidative stress that destabilizes cytosolic iron–sulfur cluster (ISC) proteins, triggering an iron‐regulatory protein (IRP)‐mediated iron‐starvation response (ISR). This leads to increased iron uptake (via TFRC), an expanded labile iron pool, and ferroptosis.
Mingjun Tan, Yunzhan Li, Lei Sang, Min Wang, Qin Li, Zekun Li, Dongxiao Sun, Xiuchao Wang, Shengyu Yang   +8 more
wiley   +1 more source

Frataxin activates mitochondrial energy conversion and oxidative phosphorylation [PDF]

Proceedings of the National Academy of Sciences, 2000
Friedreich's ataxia (FA) is an autosomal recessive disease caused by decreased expression of the mitochondrial protein frataxin. The biological function of frataxin is unclear. The homologue of frataxin in yeast, YFH1 , is required for cellular respiration and was suggested to regulate mitochondrial iron ...
M, Ristow, M F, Pfister, A J, Yee, M, Schubert, L, Michael, C Y, Zhang, K, Ueki, M D, Michael, B B, Lowell, C R, Kahn   +9 more
openaire   +2 more sources