Results 81 to 90 of about 6,668 (188)

Somatic instability of the expanded GAA repeats in Friedreich's ataxia.

PLoS ONE, 2017
Friedreich's ataxia (FRDA) is a genetic neurodegenerative disorder caused by transcriptional silencing of the frataxin gene (FXN) due to expansions of GAA repeats in intron 1.
Ashlee Long, Jill S Napierala, Urszula Polak, Lauren Hauser, Arnulf H Koeppen, David R Lynch, Marek Napierala   +6 more
doaj   +1 more source

Infectious delivery and expression of a 135 kb human FRDA genomic DNA locus complements Friedreich's ataxia deficiency in human cells.

, 2007
Friedreich's ataxia (FA) is the most common recessive ataxia, affecting 1-2 in 50,000 Caucasians, and there is currently no effective cure or treatment.
Lim, F, Wade-Martins, R, Gimenez-Cassina, A, Diaz-Nido, J, Gomez-Sebastian, S, Wade-Martins, Richard   +5 more
core   +1 more source

Measuring peripheral nerve involvement in Friedreich’s ataxia

Annals of Clinical and Translational Neurology, 2019
Objective Experimental therapies under development for Friedreich’s Ataxia (FRDA) require validated biomarkers. In‐vivo reflectance confocal microscopy (RCM) of skin is a noninvasive way to quantify Meissner’s corpuscle (MC) density and has emerged as a ...
Peter D. Creigh, Joan Mountain, Janet E. Sowden, Katy Eichinger, Bernard Ravina, Jane Larkindale, David N. Herrmann   +6 more
doaj   +1 more source

Gene expression profiling of mitochondrial oxidative phosphorylation (OXPHOS) complex I in Friedreich ataxia (FRDA) patients.

, 2014
Friedreich ataxia (FRDA) is the most frequent progressive autosomal recessive disorder associated with unstable expansion of GAA trinucleotide repeats in the first intron of the FXN gene, which encodes for the mitochondrial frataxin protein.
Houshmand, Massoud, Mohammad Hossein Salehi, Aryani, Omid, Nafissi, Shahriar, Omid Aryani, Sadeghizadeh, Majid, Kamalidehghan, Behnam, Massoud Houshmand, Goh, Yong Meng, Salehi, Mohammad Hossein, Behnam Kamalidehghan, Goh Yong Meng, Majid Sadeghizadeh, Shahriar Nafissi   +13 more
core   +1 more source

Anatomical and functional analysis of the corticospinal tract in an FRDA mouse model

Abstract Friedreich’s ataxia (FRDA) is one of the most common hereditary ataxias. It is caused by a GAA repeat in the first intron of the FXN gene, which encodes an essential mitochondrial protein. Patients suffer from progressive motor dysfunction due to the degeneration of mechanoreceptive and proprioceptive neurons in dorsal root ...
Nishiyama, Misa, Kalambogias, John, Imai, Fumiyasu, Yang, Emily, Lang, Sonia, de Nooij, Joriene C, Yoshida, Yutaka   +6 more
openaire   +2 more sources

A Protective Role Of Autophagy In A Drosophila Model Of Friedreich\u27s Ataxia (frda)

, 2015
Friedreich’s ataxia (FRDA) is an inherited autosomal recessive neurodegenerative disease. It affects 1 in every 50,000 people in central Europe and North America. FRDA is caused by deficiency of Frataxin, an essential mitochondrial iron chaperone protein,
Wang, Luan
core  

R-loops are formed over expanded repeats of FXN gene in FRDA cells.

, 2014
A. Diagram of FXN gene. Black boxes are exons, white boxes are 5′ and 3′UTRs, lines are introns, red triangle is (GAA)n expansion. TSS2 is the major transcriptional start site in lymphoblastoid cells. qPCR amplicons are shown below the diagram.
Michele M. P. Lufino (558288), Richard Wade-Martins (265579), Matthias Groh (337742), Natalia Gromak (558289)   +3 more
core   +1 more source

Progressive mitochondrial protein lysine acetylation and heart failure in a model of Friedreich's ataxia cardiomyopathy.

PLoS ONE, 2017
IntroductionThe childhood heart disease of Friedreich's Ataxia (FRDA) is characterized by hypertrophy and failure. It is caused by loss of frataxin (FXN), a mitochondrial protein involved in energy homeostasis.
Amanda R Stram, Gregory R Wagner, Brian D Fogler, P Melanie Pride, Matthew D Hirschey, R Mark Payne   +5 more
doaj   +1 more source

Montane alternative silvicultural systems (MASS) forest structure and natural vegetation dynamics

, 1995
This project is one of several focussed on investigating aspects of silvicultural systems being compared at the MASS study area in coastal montane forests.
Toms, Judith, Sandford, Jeff, Beese, William J.   +2 more
core  

DNA Base Damage Repair Crosstalks with Chromatin Structures to Contract Expanded GAA Repeats in Friedreich’s Ataxia

Biomolecules
Trinucleotide repeat (TNR) expansion is the cause of over 40 neurodegenerative diseases, including Huntington’s disease and Friedreich’s ataxia (FRDA).
Yanhao Lai, Nicole Diaz, Rhyisa Armbrister, Irina Agoulnik, Yuan Liu   +4 more
doaj   +1 more source