Results 61 to 70 of about 5,555 (166)

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

open access: yesEuropean 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

open access: yesAdvanced 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   +5 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

open access: yesScientific 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   +9 more
doaj   +1 more source

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

open access: yes
Movement Disorders Clinical Practice, Volume 13, Issue 7, Page 1788-1789, July 2026.
Zofia Fleszar   +4 more
wiley   +1 more source

Mitochondrial Transplantation as a Therapeutic Strategy for Inherited Mitochondrial Diseases

open access: yesAdvanced 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   +17 more
wiley   +1 more source

Revisiting Friedreich's Ataxia: Phenotypic and Imaging Characteristics

open access: yesAnnals 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   +8 more
doaj   +1 more source

Genetic variations creating microRNA target sites in the FXN 3'-UTR affect frataxin expression in Friedreich ataxia.

open access: yesPLoS 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   +9 more
doaj   +1 more source

Microbial Metabolism and Disease Virulence Changes Across Day and Night in Coral Black Band Disease Lesions

open access: yesEnvironmental Microbiology, Volume 28, Issue 2, February 2026.
Metatranscriptomic reads from black band disease (BBD) lesions derived from samples collected during the day and night were mapped to near‐complete BBD‐derived metagenome‐assembled genomes to profile diurnal metabolic shifts among key microbial groups. Photosynthesis genes from the cyanobacterium Roseofilum reptotaenium were highly expressed during the
Julia Y. Hung   +4 more
wiley   +1 more source

At-home wearable-based monitoring predicts clinical measures and biological biomarkers of disease severity in Friedreich’s Ataxia

open access: yesCommunications Medicine
Background Friedreich ataxia (FRDA) results in progressive impairment in gait, upper extremity coordination, and speech. Currently, these symptoms are assessed through expert examination at clinical visits.
Ram Kinker Mishra   +6 more
doaj   +1 more source

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