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Frederic Favreau

Explore the profile of Frederic Favreau including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 53
Citations 565
Followers 0
Related Specialties
General Medicine
Biochemistry
Biomedical Engineering
Top 10 Co-Authors
Thierry Hauet
Franck Sturtz
Pierre-Antoine Faye
Anne-Sophie Lia
Raphael Thuillier
Laurence Richard
Gerard Mauco
Jean Michel Goujon
Federica Miressi
Corinne Magdelaine
Published In
Biomedicines
J Transl Med
Brain Sci
Am J Physiol Renal Physiol
Int J Mol Sci
Affiliations
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Recent Articles
1.
From in vivo models to in vitro bioengineered neuromuscular junctions for the study of Charcot-Marie-Tooth disease
Scherrer C, Loret C, Vedrenne N, Buckley C, Lia A, Kermene V, et al.
J Tissue Eng . 2025 Mar; 16:20417314241310508. PMID: 40078221
Peripheral neuropathies are disorders affecting the peripheral nervous system. Among them, Charcot-Marie-Tooth disease is an inherited sensorimotor neuropathy for which no effective treatment exists yet. Research on Charcot-Marie-Tooth disease has...
2.
Addressing myelination disorders: Novel strategies using human 3D peripheral nerve model
Loret C, Scherrer C, Rovini A, Lesage E, Richard L, Danigo A, et al.
Brain Res Bull . 2025 Feb; 222:111252. PMID: 39938756
Peripheral myelination disorders encompass a variety of disorders that affect myelin sheaths in the peripheral nervous system. The Charcot-Marie-Tooth disease (CMT), the most common inherited peripheral neuropathy, is one of...
3.
CRISPR Base Editing to Create Potential Charcot-Marie-Tooth Disease Models with High Editing Efficiency: Human Induced Pluripotent Stem Cell Harboring Variants
Loret C, Pauset A, Faye P, Prouzet-Mauleon V, Pyromali I, Nizou A, et al.
Biomedicines . 2024 Jul; 12(7). PMID: 39062123
Human induced pluripotent stem cells (hiPSCs) represent a powerful tool to investigate neuropathological disorders in which the cells of interest are inaccessible, such as in the Charcot-Marie-Tooth disease (CMT), the...
4.
Improvement of Charcot-Marie-Tooth Phenotype with a Nanocomplex Treatment in Two Transgenic Models of CMT1A
El Massry M, Msheik Z, El Masri T, Ntoutoume G, Vignaud L, Richard L, et al.
Biomater Res . 2024 Apr; 28:0009. PMID: 38560579
Curcumin has been shown to exert beneficial effects in peripheral neuropathies. Despite its known biological activities, curcumin has unfavorable pharmacokinetics. Its instability has been linked to its failure in clinical...
5.
Readthrough Activators and Nonsense-Mediated mRNA Decay Inhibitor Molecules: Real Potential in Many Genetic Diseases Harboring Premature Termination Codons
Benslimane N, Loret C, Chazelas P, Favreau F, Faye P, Lejeune F, et al.
Pharmaceuticals (Basel) . 2024 Mar; 17(3). PMID: 38543100
Nonsense mutations that generate a premature termination codon (PTC) can induce both the accelerated degradation of mutated mRNA compared with the wild type version of the mRNA or the production...
6.
Amlexanox: Readthrough Induction and Nonsense-Mediated mRNA Decay Inhibition in a Charcot-Marie-Tooth Model of hiPSCs-Derived Neuronal Cells Harboring a Nonsense Mutation in Gene
Benslimane N, Miressi F, Loret C, Richard L, Nizou A, Pyromali I, et al.
Pharmaceuticals (Basel) . 2023 Jul; 16(7). PMID: 37513945
Nonsense mutations are involved in multiple peripheral neuropathies. These mutations induce the presence of a premature termination codon (PTC) at the mRNA level. As a result, a dysfunctional or truncated...
7.
The First Large Deletion of Identified in a Patient Presenting with a Sensory Polyneuropathy
Pyromali I, Richard L, Derouault P, Vallat J, Ghorab K, Magdelaine C, et al.
Biomedicines . 2023 Jun; 11(6). PMID: 37371660
Hereditary sensory neuropathies (HSN) are a heterogenous group of sensory neuropathies. Mutations in have been described in patients presenting with hereditary sensory neuropathy IF (HSN1F), a subtype of HSN. Herein,...
8.
Early Diagnosis in Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS) by Focusing on Major Clinical Clues: Beyond Ataxia and Vestibular Impairment
Magy L, Chazelas P, Richard L, Deschamps N, Frachet S, Vallat J, et al.
Biomedicines . 2022 Aug; 10(8). PMID: 36009593
CANVAS, a rare disorder responsible for late-onset ataxia of autosomal recessive inheritance, can be misdiagnosed. We investigated a series of eight patients with sensory neuropathy and/or an unexplained cough, who...
9.
From Negative to Positive Diagnosis: Structural Variation Could Be the Second Mutation You Are Looking for in a Recessive Autosomal Gene
Pyromali I, Benslimane N, Favreau F, Goizet C, Lazaro L, Vitry M, et al.
J Pers Med . 2022 Feb; 12(2). PMID: 35207700
Next-generation sequencing (NGS) allows the detection of plentiful mutations increasing the rate of patients getting a positive diagnosis. However, while single-nucleotide variants (SNVs) or small indels can be easily detected,...
10.
GDAP1 Involvement in Mitochondrial Function and Oxidative Stress, Investigated in a Charcot-Marie-Tooth Model of hiPSCs-Derived Motor Neurons
Miressi F, Benslimane N, Favreau F, Rassat M, Richard L, Bourthoumieu S, et al.
Biomedicines . 2021 Aug; 9(8). PMID: 34440148
Mutations in the ganglioside-induced differentiation associated protein 1 () gene have been associated with demyelinating and axonal forms of Charcot-Marie-Tooth (CMT) disease, the most frequent hereditary peripheral neuropathy in humans....