Results 61 to 70 of about 5,660 (167)

Decomposition Kinetics of Solution and Lyophilized Powder of S‐Nitroso‐N‐Cetylcysteine

Journal of Food Science, Volume 91, Issue 4, April 2026.
ABSTRACT Recently, S‐nitrosothiols (RSNO) have received increased attention in the food industry as replacements for nitrite salts in meat products. However, their industrial applications are limited because of their high instability in concentrated aqueous solutions.
Bruna Fernandes Andrade, Lorrany Ramos do Carmo, Vanelle Maria da Silva, Robledo de Almeida Torres Filho, Paulo Rogério Fontes, Alcinéia de Lemos Souza Ramos, Eduardo Mendes Ramos   +6 more
wiley   +1 more source

Circulating miR-323-3p is a biomarker for cardiomyopathy and an indicator of phenotypic variability in Friedreich’s ataxia patients

Scientific Reports, 2017
MicroRNAs (miRNAs) are noncoding RNAs that contribute to gene expression modulation by regulating important cellular pathways. In this study, we used small RNA sequencing to identify a series of circulating miRNAs in blood samples taken from Friedreich’s
M. Seco-Cervera, D. González-Rodríguez, J. S. Ibáñez-Cabellos, L. Peiró-Chova, P. González-Cabo, E. García-López, J. J. Vílchez, I. Sanz-Gallego, F. V. Pallardó, J. L. García-Giménez   +9 more
doaj   +1 more source

When R‐Loops Go Awry: Genome Instability and Neurological Diseases

European Journal of Neuroscience, Volume 63, Issue 8, April 2026.
DNA normally exists as a double helix formed by two complementary strands. During gene transcription, however, one strand of DNA can bind to RNA, causing the other DNA strand to be displaced. This creates a structure called an R‐loop. R‐loops play important roles in normal cellular processes such as gene expression, DNA replication, and transcription ...
Nur Rasyiqin Rasli, Yu Katsuyama
wiley   +1 more source

Evolution of Prime Editing: Enhancing Efficiency and Expanding Capacity

Advanced Science, Volume 13, Issue 16, 18 March 2026.
Most rare diseases are caused by genetic mutations. Prime editing (PE) has emerged as a versatile tool capable of inducing diverse mutations without generating DNA double‐strand breaks. Despite its significant clinical potential, PE faces limitations in terms of efficiency and scalability.
Jihyeon Yu, Ju‐Chan Park, Heesoo Uhm, Yong‐Woo Kim, Hyeon Woo Im, Sangsu Bae   +5 more
wiley   +1 more source

Iron, FRDA, and intermediary metabolism [PDF]

Blood, 2021
openaire   +2 more sources

Nerve Ultrasound in Patients With Friedreich Ataxia

Muscle &Nerve, Volume 73, Issue 3, Page 395-402, March 2026.
ABSTRACT Introduction/Aims Nerve enlargement has been reported in patients with Friedreich ataxia (FRDA). The underlying cause remains unclear, and both inflammatory processes and dysmyelination have been suggested as potential mechanisms. This study was aimed at assessing nerve morphology with high‐resolution ultrasound, to identify and describe ...
Katharina Kneer, Jan‐Hendrik Stahl, Natalie Winter, Julia Wittlinger, Stephanie Männlin, Toghrul Gasimli, Ludger Schöls, Zofia Fleszar, Stefanie Hayer, Alexander Grimm   +9 more
wiley   +1 more source

Domain Specific Placebo Response in the Modified Friedreich's Ataxia Rating Scale

Annals of Clinical and Translational Neurology, Volume 13, Issue 2, Page 393-398, February 2026.
ABSTRACT The placebo response in clinical trials in ataxias complicates outcome interpretation and potentially obscures genuine treatment effects. We analyzed placebo group data from past trials in Friedreich Ataxia and observed notable responses in appendicular items, in contrast to minimal changes in axial function, as measured by respective ...
Christian Rummey, Jennifer M. Farmer, David R. Lynch   +2 more
wiley   +1 more source

Revisiting Friedreich's Ataxia: Phenotypic and Imaging Characteristics

Annals of Indian Academy of Neurology
Background and Aim: Friedreich's ataxia (FRDA) is a common cause of autosomal recessive cerebellar ataxia. The phenotype is dependent on the repeat size and duration of the disease.
Rohan Mahale, Meera Purushottam, Raviprakash Singh, Ramachandra Yelamanchi, Nitish Kamble, Vikram Holla, Pramod K. Pal, Sanjeev Jain, Ravi Yadav   +8 more
doaj   +1 more source

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

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