[HTML][HTML] Friedreich ataxia-pathogenesis and implications for therapies
MB Delatycki, SI Bidichandani - Neurobiology of disease, 2019 - Elsevier
Friedreich ataxia is the most common of the hereditary ataxias. It is due to homozygous/
compound heterozygous mutations in FXN. This gene encodes frataxin, a protein largely …
compound heterozygous mutations in FXN. This gene encodes frataxin, a protein largely …
Multifaceted nanoparticles: emerging mechanisms and therapies in neurodegenerative diseases
M Mistretta, A Farini, Y Torrente, C Villa - Brain, 2023 - academic.oup.com
Neurodegenerative diseases are a major global health burden particularly with the
increasing ageing population. Hereditary predisposition and environmental risk factors …
increasing ageing population. Hereditary predisposition and environmental risk factors …
Safety and efficacy of omaveloxolone in Friedreich ataxia (MOXIe study)
DR Lynch, MP Chin, MB Delatycki… - Annals of …, 2021 - Wiley Online Library
Objective Friedreich ataxia (FA) is a progressive genetic neurodegenerative disorder with no
approved treatment. Omaveloxolone, an Nrf2 activator, improves mitochondrial function …
approved treatment. Omaveloxolone, an Nrf2 activator, improves mitochondrial function …
Cerebellum lecture: the cerebellar nuclei—core of the cerebellum
JM Kebschull, F Casoni, GG Consalez, D Goldowitz… - The Cerebellum, 2024 - Springer
The cerebellum is a key player in many brain functions and a major topic of neuroscience
research. However, the cerebellar nuclei (CN), the main output structures of the cerebellum …
research. However, the cerebellar nuclei (CN), the main output structures of the cerebellum …
Autosomal recessive cerebellar ataxias: paving the way toward targeted molecular therapies
Autosomal-recessive cerebellar ataxias (ARCAs) comprise a heterogeneous group of rare
degenerative and metabolic genetic diseases that share the hallmark of progressive …
degenerative and metabolic genetic diseases that share the hallmark of progressive …
C9orf72 loss-of-function: a trivial, stand-alone or additive mechanism in C9 ALS/FTD?
A repeat expansion in C9orf72 is responsible for the characteristic neurodegeneration in
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in a still unresolved …
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in a still unresolved …
Hypoxia rescues frataxin loss by restoring iron sulfur cluster biogenesis
Friedreich's ataxia (FRDA) is a devastating, multisystemic disorder caused by recessive
mutations in the mitochondrial protein frataxin (FXN). FXN participates in the biosynthesis of …
mutations in the mitochondrial protein frataxin (FXN). FXN participates in the biosynthesis of …
[HTML][HTML] Rapid and complete reversal of sensory ataxia by gene therapy in a novel model of Friedreich ataxia
F Piguet, C de Montigny, N Vaucamps, L Reutenauer… - Molecular Therapy, 2018 - cell.com
Friedreich ataxia (FA) is a rare mitochondrial disease characterized by sensory and
spinocerebellar ataxia, hypertrophic cardiomyopathy, and diabetes, for which there is no …
spinocerebellar ataxia, hypertrophic cardiomyopathy, and diabetes, for which there is no …
The role of iron in Friedreich's ataxia: insights from studies in human tissues and cellular and animal models
JV Llorens, S Soriano, P Calap-Quintana… - Frontiers in …, 2019 - frontiersin.org
Friedreich's ataxia (FRDA) is a rare early-onset degenerative disease that affects both the
central and peripheral nervous systems, and other extraneural tissues, mainly the heart and …
central and peripheral nervous systems, and other extraneural tissues, mainly the heart and …
High levels of frataxin overexpression lead to mitochondrial and cardiac toxicity in mouse models
B Belbellaa, L Reutenauer, N Messaddeq… - … Therapy-Methods & …, 2020 - cell.com
Friedreich ataxia (FA) is currently an incurable inherited mitochondrial disease caused by
reduced levels of frataxin (FXN). Cardiac dysfunction is the main cause of premature death …
reduced levels of frataxin (FXN). Cardiac dysfunction is the main cause of premature death …