Results 141 to 150 of about 10,061 (229)

Structure of human Fe–S assembly subcomplex reveals unexpected cysteine desulfurase architecture and acyl-ACP–ISD11 interactions [PDF]

, 2017
In eukaryotes, sulfur is mobilized for incorporation into multiple biosynthetic pathways by a cysteine desulfurase complex that consists of a catalytic subunit (NFS1), LYR protein (ISD11), and acyl carrier protein (ACP). This NFS1-ISD11-ACP (SDA) complex
Barondeau, David P., Brignole, Edward J., Cory, Seth A., Drennan, Catherine L., Patra, Shachin, Rutter, Jared, Van Vranken, Jonathan G., Winge, Dennis R.   +7 more
core   +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

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

Analysis of the Sam50 translocase of excavate organisms supports evolution of divergent organelles from a common endosymbiotic event [PDF]

, 2013
As free-living organisms the ancestors of mitochondria and plastids encoded complete genomes, proteomes and metabolomes. As these symbionts became organelles all these aspects were reduced – genomes have degenerated with the host nucleus now encoding the
Bradley, Cavalier-Smith, Chenna, Christopher J. Kay, Dagley, Diamond, Dolezal, Embley, Esser, Finn, Gentle, Gentle, Gross, Guindon, Hampl, Huelsenbeck, Ian D. Kerr, Jedelský, Karen Lawler, Katoh, Kay, Kay, Klein, Kutik, Laemmli, Marchler-Bauer, Rada, Sanchez-Pulido, Schägger, Sharma, Zeth   +30 more
core   +3 more sources

Autophagy induction extends lifespan and reduces lipid content in response to frataxin silencing in C. elegans [PDF]

, 2013
Severe mitochondria deficiency leads to a number of devastating degenerative disorders, yet, mild mitochondrial dysfunction in different species, including the nematode Caenorhabditis elegans, can have pro-longevity effects.
Bei, R, Braeckman, B, Castelein, N, Condò, I, Gelino, S, Guccini, I, Hansen, M, Kell, A, Malisan, F, Marzocchella, L, Megalou, E, Rea, S, Schiavi, A, Tavernarakis, N, Testi, R, Torgovnick, A, Ventura, N   +16 more
core   +2 more sources

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

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

The emerging role of 5-hydroxymethylcytosine in neurodegenerative diseases [PDF]

, 2014
Copyright © 2014 Al-Mahdawi, Anjomani Virmouni and Pook. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY).
Al-Mahdawi, S, Pook, MA, Virmouni, SA
core   +1 more source

Mitofusin-Dependent ER Stress Triggers Glial Dysfunction and Nervous System Degeneration in a Drosophila Model of Friedreich’s Ataxia

Frontiers in Molecular Neuroscience, 2018
Friedreich’s ataxia (FRDA) is the most important recessive ataxia in the Caucasian population. It is caused by a deficit of the mitochondrial protein frataxin.
Oliver Edenharter, Stephan Schneuwly, Juan A. Navarro   +2 more
doaj   +1 more source

Frataxin deficiency induces lipid accumulation and affects thermogenesis in brown adipose tissue

Cell Death and Disease, 2019
Decreased expression of mitochondrial frataxin (FXN) causes Friedreich’s ataxia (FRDA), a neurodegenerative disease with type 2 diabetes (T2D) as severe comorbidity.
Riccardo Turchi, Flavia Tortolici, Giulio Guidobaldi, F. Iacovelli, M. Falconi, S. Rufini, R. Faraonio, Viviana Casagrande, M. Federici, L. De Angelis, S. Carotti, M. Francesconi, M. Zingariello, S. Morini, R. Bernardini, Maurizio Mattei, Piergiorgio La Rosa, F. Piemonte, Daniele Lettieri-Barbato, K. Aquilano   +19 more
semanticscholar   +1 more source