Experimental drugs for Friedrich's ataxia: progress and setbacks in clinical trials

S Boesch, E Indelicato - Expert Opinion on Investigational Drugs, 2023 - Taylor & Francis
Friedreich's ataxia (FA)(OMIM# 229300) is the most frequent inherited ataxia worldwide and
a devastating multisystemic disease [1]. FA usually presents in adolescence with a slowly …

Skeletal Muscle Involvement in Friedreich Ataxia

E Indelicato, J Wanschitz, W Löscher… - International Journal of …, 2024 - pmc.ncbi.nlm.nih.gov
Friedreich Ataxia (FRDA) is an inherited neuromuscular disorder triggered by a deficit of the
mitochondrial protein frataxin. At a cellular level, frataxin deficiency results in insufficient iron …

Skeletal muscle proteome analysis underpins multifaceted mitochondrial dysfunction in Friedreich's ataxia

E Indelicato, K Faserl, M Amprosi… - Frontiers in …, 2023 - frontiersin.org
Friedreich's ataxia (FRDA) is a severe multisystemic disorder caused by a deficiency of the
mitochondrial protein frataxin. While some aspects of FRDA pathology are developmental …

Genetic Determined Iron Starvation Signature in Friedreich's Ataxia

M Grander, D Haschka, E Indelicato… - Movement …, 2024 - Wiley Online Library
Background Early studies in cellular models suggested an iron accumulation in Friedreich's
ataxia (FA), yet findings from patients are lacking. Objectives The objective is to characterize …

[HTML][HTML] Differential Gene Expression in Late-Onset Friedreich Ataxia: A Comparative Transcriptomic Analysis Between Symptomatic and Asymptomatic Sisters

S Petrillo, A Perna, A Quatrana, G Silvestri… - International Journal of …, 2024 - mdpi.com
Friedreich ataxia (FRDA) is the most common inherited ataxia, primarily impacting the
nervous system and the heart. It is characterized by GAA repeat expansion in the FXN gene …

Exploring the Role of NAD+ Homeostasis in Cardiac Hypertrophy and Functional Abnormalities in a Mouse Model of Friedreich's Ataxia

CE Perry - 2024 - search.proquest.com
Nearly half of all adults in the United States are currently living with some form of
cardiovascular disease. In many cases this progresses to heart failure, for which there is no …

DATA-DRIVEN BIOMEDICINE INVESTIGATION OF GENETIC AND INFECTIOUS-BASED DISEASES USING OMICS DATA AND DATA SCIENCE METHODOLOGIES.

D Agany - 2023 - red.library.usd.edu
The binary model of existence consists of health and disease, with health being complete
physical, mental, and social well-being and disease being a pathological process. Humanity …