Contact and support
Need help, have a question, or want to contact the ResearchHub team?
© 2026 ResearchHub. Built for responsible scholarly connection.
Privacy-aware community infrastructureResearch graph
References from Development of a secretable frataxin for enhanced efficacy in treating Friedreich’s Ataxia. Local targets link to admitted publications; unresolved targets remain external evidence.
Diagnosis and treatment of Friedreich ataxia: a European perspective
10.1038/nrneurol.2009.26 · 2009 · External reference
The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies
10.1159/000358801 · 2014 · External reference
A systematic review of disease prevalence, health-related quality of life, and economic outcomes associated with Friedreich's Ataxia
10.1080/03007995.2022.2112870 · 2022 · External reference
Recessive cerebellar and afferent ataxias - clinical challenges and future directions
10.1038/s41582-022-00634-9 · 2022 · External reference
Friedreich ataxia: the clinical picture
10.1007/s00415-009-1002-3 · 2009 · External reference
The cerebellar component of Friedreich's ataxia
10.1007/s00401-011-0844-9 · 2011 · External reference
Molecular Mechanisms and Therapeutics for the GAA.TTC Expansion Disease Friedreich Ataxia
10.1007/s13311-019-00764-x · 2019 · External reference
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes
10.1093/hmg/6.11.1771 · 1997 · External reference
Natural History of Friedreich Ataxia: Heterogeneity of Neurologic Progression and Consequences for Clinical Trial Design
10.1212/wnl.0000000000200913 · 2022 · External reference
Frataxin levels in peripheral tissue in Friedreich ataxia
10.1002/acn3.225 · 2015 · External reference
Real time PCR quantification of frataxin mRNA in the peripheral blood leucocytes of Friedreich ataxia patients and carriers
10.1136/jnnp.2003.028605 · 2004 · External reference
Determinants of onset age in Friedreich's ataxia
10.1007/s004150050198 · 1998 · External reference
Two-step processing of human frataxin by mitochondrial processing peptidase. Precursor and intermediate forms are cleaved at different rates
10.1074/jbc.m006539200 · 2000 · External reference
Structure of the human frataxin-bound iron-sulfur cluster assembly complex provides insight into its activation mechanism
10.1038/s41467-019-09989-y · 2019 · External reference
Recent Advances in the Elucidation of Frataxin Biochemical Function Open Novel Perspectives for the Treatment of Friedreich's Ataxia
10.3389/fnins.2022.838335 · 2022 · External reference
Mortality in Friedreich ataxia
10.1016/j.jns.2011.05.023 · 2011 · External reference
Central Nervous System Therapeutic Targets in Friedreich Ataxia
10.1089/hum.2020.264 · 2020 · External reference
Heart disease in Friedreich's ataxia
10.4330/wjc.v11.i1.1 · 2019 · External reference
Characterizing cardiac phenotype in Friedreich's ataxia: The CARFA study
10.1016/j.acvd.2021.10.010 · 2022 · External reference
Therapeutic Prospects for Friedreich's Ataxia
10.1016/j.tips.2019.02.001 · 2019 · External reference
Future Prospects of Gene Therapy for Friedreich's Ataxia
10.3390/ijms22041815 · 2021 · External reference
The NRF2 Signaling Network Defines Clinical Biomarkers and Therapeutic Opportunity in Friedreich's Ataxia
10.3390/ijms21030916 · 2020 · External reference
Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study)
10.1002/ana.25934 · 2021 · External reference
Efficacy of Omaveloxolone in Friedreich's Ataxia: Delayed-Start Analysis of the MOXIe Extension
10.1002/mds.29286 · 2023 · External reference
A TAT-frataxin fusion protein increases lifespan and cardiac function in a conditional Friedreich's ataxia mouse model
10.1093/hmg/ddr554 · 2012 · External reference
Frataxin-deficient neurons and mice models of Friedreich ataxia are improved by TAT-MTScs-FXN treatment
10.1111/jcmm.13365 · 2018 · External reference
Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich's ataxia
10.1038/nm.3510 · 2014 · External reference
Correction of half the cardiomyocytes fully rescue Friedreich ataxia mitochondrial cardiomyopathy through cell-autonomous mechanisms
10.1093/hmg/ddy427 · 2019 · External reference
High Levels of Frataxin Overexpression Lead to Mitochondrial and Cardiac Toxicity in Mouse Models
10.1016/j.omtm.2020.08.018 · 2020 · External reference
In vivo overexpression of frataxin causes toxicity mediated by iron-sulfur cluster deficiency
10.1016/j.omtm.2022.02.002 · 2022 · External reference
Cerebellar Pathology in an Inducible Mouse Model of Friedreich Ataxia
10.3389/fnins.2022.819569 · 2022 · External reference
Identification of Safe and Effective Intravenous Dose of AAVrh.10hFXN to Treat the Cardiac Manifestations of Friedreich's Ataxia
10.1089/hum.2023.020 · 2023 · External reference
AAV8 gene therapy reverses cardiac pathology and prevents early mortality in a mouse model of Friedreich's ataxia
10.1016/j.omtm.2024.101193 · 2024 · External reference
How Great a Risk Do You Take? A Qualitative Study Exploring Attitudes of Individuals with Friedreich Ataxia Toward Gene Therapy
10.1089/hum.2023.088 · 2023 · External reference
Rapid and Complete Reversal of Sensory Ataxia by Gene Therapy in a Novel Model of Friedreich Ataxia
10.1016/j.ymthe.2018.05.006 · 2018 · External reference
High-Throughput Dissection of AAV-Host Interactions: The Fast and the Curious
10.1016/j.jmb.2018.05.022 · 2018 · External reference
Quantitative Whole-Body Imaging of I-124-Labeled Adeno-Associated Viral Vector Biodistribution in Nonhuman Primates
10.1089/hum.2020.116 · 2020 · External reference
Positron Emission Tomography Quantitative Assessment of Off-Target Whole-Body Biodistribution of I-124-Labeled Adeno-Associated Virus Capsids Administered to Cerebral Spinal Fluid
10.1089/hum.2023.060 · 2023 · External reference
Cross-species efficacy of AAV-mediated ARSA replacement for Metachromatic Leukodystrophy
10.1172/jci185001 · 2025 · External reference
Unresolved reference
External reference
Pharmacotherapeutic strategies for Friedreich Ataxia: a review of the available data
10.1080/14656566.2024.2343782 · 2024 · External reference
Friedreich's ataxia: pathology, pathogenesis, and molecular genetics
10.1016/j.jns.2011.01.010 · 2011 · External reference
Characterization of tissue-specific transcription by the human synapsin I gene promoter
10.1073/pnas.88.8.3431 · 1991 · External reference
Identification of a functional silencer element involved in neuron-specific expression of the synapsin I gene
10.1073/pnas.90.4.1460 · 1993 · External reference
Neuron-specific gene expression of synapsin I. Major role of a negative regulatory mechanism
10.1074/jbc.271.6.3317 · 1996 · External reference
Comparative study of the transfection efficiency of commonly used viral vectors in rhesus monkey (Macaca mulatta) brains
2017 · External reference
Development of an AAV-delivered microRNA gene therapy for Myotonic Dystrophy Type 1
10.1016/j.ymthe.2025.08.050 · 2025 · External reference
Semirational bioengineering of AAV vectors with increased potency and specificity for systemic gene therapy of muscle disorders
10.1126/sciadv.abn4704 · 2022 · External reference
Tissue specific promoters improve specificity of AAV9 mediated transgene expression following intra-vascular gene delivery in neonatal mice
10.1186/1479-0556-6-13 · 2008 · External reference
Targeting proteins to mitochondria using TAT
10.1016/j.ymgme.2003.08.017 · 2003 · External reference
Cell-Penetrating Peptides: From Basic Research to Clinics
10.1016/j.tips.2017.01.003 · 2017 · External reference
CDKL5 protein substitution therapy rescues neurological phenotypes of a mouse model of CDKL5 disorder
10.1093/hmg/ddy064 · 2018 · External reference
Delivery of therapeutic proteins as secretable TAT fusion products
10.1038/mt.2008.256 · 2009 · External reference
Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin
10.1038/ng0897-345 · 1997 · External reference
Heterologous mitochondrial targeting sequences can deliver functional proteins into mitochondria
10.1016/j.biocel.2016.10.013 · 2016 · External reference
A comprehensive review of signal peptides: Structure, roles, and applications
10.1016/j.ejcb.2018.06.003 · 2018 · External reference
DeepLoc: prediction of protein subcellular localization using deep learning
10.1093/bioinformatics/btx431 · 2017 · External reference
SignalP 6.0 predicts all five types of signal peptides using protein language models
10.1038/s41587-021-01156-3 · 2022 · External reference
Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits
10.1038/84818 · 2001 · External reference
Scientific and Regulatory Policy Committee Technical Review: Biology and Pathology of Ganglia in Animal Species Used for Nonclinical Safety Testing
10.1177/01926233231213851 · 2023 · External reference
Adeno-Associated Virus-Induced Dorsal Root Ganglion Pathology
10.1089/hum.2020.167 · 2020 · External reference
The Neurotropic Properties of AAV-PHP.B Are Limited to C57BL/6J Mice
10.1016/j.ymthe.2018.01.018 · 2018 · External reference
AAV-PHP.B Administration Results in a Differential Pattern of CNS Biodistribution in Non-human Primates Compared with Mice
10.1016/j.ymthe.2019.07.017 · 2019 · External reference
Intravenous administration of the adeno-associated virus-PHP.B capsid fails to upregulate transduction efficiency in the marmoset brain
10.1016/j.neulet.2017.11.049 · 2018 · External reference
AAV capsid variants with brain-wide transgene expression and decreased liver targeting after intravenous delivery in mouse and marmoset
10.1038/s41593-021-00969-4 · 2022 · External reference
Primate-conserved carbonic anhydrase IV and murine-restricted LY6C1 enable blood-brain barrier crossing by engineered viral vectors
10.1126/sciadv.adg6618 · 2023 · External reference
Efficacy and safety of AM-111 in the treatment of acute sensorineural hearing loss: a double-blind, randomized, placebo-controlled phase II study
10.1097/mao.0000000000000466 · 2014 · External reference
XG-102 administered to healthy male volunteers as a single intravenous infusion: a randomized, double-blind, placebo-controlled, dose-escalating study
10.1002/prp2.20 · 2014 · External reference
The safety and efficacy of KAI-1678- an inhibitor of epsilon protein kinase C (epsilonPKC)-versus lidocaine and placebo for the treatment of postherpetic neuralgia: a crossover study design
10.1111/pme.12058 · 2013 · External reference
Intracoronary KAI-9803 as an adjunct to primary percutaneous coronary intervention for acute ST-segment elevation myocardial infarction
10.1161/circulationaha.107.759167 · 2008 · External reference
