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L. Reutenauer · SciRah

Researcher profile · Semantic Scholar

L. Reutenauer

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L. Reutenauer — researcher profile on SciRah

h-index: 19
Works: 32
Citations: 2,560

Most-cited papers

Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations.
M. Cossée, M. Schmitt, V. Campuzano, L. Reutenauer +3 more
1997Proceedings of the National Academy of Sciences of the United States of America336 citations Open access
Semantic Scholar
Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families.
L. Cavalier, K. Ouahchi, H. Kayden, S. Di Donato +3 more
1998American Journal of Human Genetics298 citations Open access
Semantic Scholar
Mammalian Frataxin: An Essential Function for Cellular Viability through an Interaction with a Preformed ISCU/NFS1/ISD11 Iron-Sulfur Assembly Complex
Stephane Schmucker, A. Martelli, Florent Colin, A. Page +3 more
2011PLoS ONE243 citations Open access
Semantic Scholar
Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich's ataxia
M. Perdomini, Brahim Belbellaa, L. Monassier, L. Reutenauer +5 more
2014Nature Medicine221 citations Open access
Semantic Scholar
Friedreich ataxia: the oxidative stress paradox.
H. Seznec, D. Simon, C. Bouton, L. Reutenauer +7 more
2005Human Molecular Genetics220 citations
Semantic Scholar
Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping
C. Ben Hamida, N. Doerflinger, S. Belal, C. Linder +13 more
1993Nature Genetics217 citations
Semantic Scholar
Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich’s ataxia
A. Hick, Marie Wattenhofer-Donzé, Satyan Chintawar, P. Tropel +14 more
2012Disease Models & Mechanisms162 citations Open access
Semantic Scholar
Frataxin is essential for extramitochondrial Fe-S cluster proteins in mammalian tissues.
A. Martelli, Marie Wattenhofer-Donzé, Stephane Schmucker, Samuel Bouvet +2 more
2007Human Molecular Genetics142 citations
Semantic Scholar
Cerebellar Ataxia and Coenzyme Q Deficiency Through Loss of Unorthodox Kinase Activity
Jonathan A. Stefely, F. Licitra, L. Laredj, A. Reidenbach +34 more
2016Molecules and Cells122 citations Open access
Semantic Scholar
Rapid and Complete Reversal of Sensory Ataxia by Gene Therapy in a Novel Model of Friedreich Ataxia.
F. Piguet, Charline de Montigny, Nadège Vaucamps, L. Reutenauer +2 more
2018Molecular Therapy106 citations Open access
Semantic Scholar
Frataxin deficiency alters heme pathway transcripts and decreases mitochondrial heme metabolites in mammalian cells.
R. Schoenfeld, Eleonora Napoli, A. Wong, Shan Zhan +8 more
2005Human Molecular Genetics105 citations
Semantic Scholar
Iron regulatory protein 1 sustains mitochondrial iron loading and function in frataxin deficiency.
A. Martelli, Stephane Schmucker, L. Reutenauer, J. Mathieu +6 more
2015Cell Metabolism75 citations Open access
Semantic Scholar
High Levels of Frataxin Overexpression Lead to Mitochondrial and Cardiac Toxicity in Mouse Models
Brahim Belbellaa, L. Reutenauer, N. Messaddeq, L. Monassier +1 more
2020Molecular Therapy: Methods & Clinical Development69 citations Open access
Semantic Scholar
The First Cellular Models Based on Frataxin Missense Mutations That Reproduce Spontaneously the Defects Associated with Friedreich Ataxia
Nadège Calmels, Stephane Schmucker, Marie Wattenhofer-Donzé, A. Martelli +6 more
2009PLoS ONE66 citations Open access
Semantic Scholar
Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich’s ataxia
A. Martelli, Lisa S. Friedman, L. Reutenauer, N. Messaddeq +6 more
2012Disease Models & Mechanisms39 citations Open access
Semantic Scholar
Correction of half the cardiomyocytes fully rescue Friedreich ataxia mitochondrial cardiomyopathy through cell-autonomous mechanisms.
Brahim Belbellaa, L. Reutenauer, L. Monassier, H. Puccio
2018Human Molecular Genetics36 citations
Semantic Scholar
Familial isolated vitamin E deficiency. Extensive study of a large family with a 5-year therapeutic follow-up
J. Amiel, J. Mazière, I. Beucler, Michel Koenig +5 more
1995Journal of Inherited Metabolic Disease28 citations
Semantic Scholar
Localization of Refsum disease with increased pipecolic acidaemia to chromosome 10p by homozygosity mapping and carrier testing in a single nuclear family.
N. Nadal, M. Rolland, C. Tranchant, L. Reutenauer +4 more
1995Human Molecular Genetics25 citations
Semantic Scholar
Mitochondrial dysfunction and calcium dysregulation in COQ8A-ataxia Purkinje neurons are rescued by CoQ10 treatment.
Ioannis Manolaras, Andrea Del Bondio, Olivier Griso, L. Reutenauer +3 more
2023Brain : a journal of neurology23 citations Open access
Semantic Scholar
Limitations in a frataxin knockdown cell model for Friedreich ataxia in a high-throughput drug screen
Nadège Calmels, H. Seznec, Pascal Villa, L. Reutenauer +5 more
2009BMC Neurology15 citations Open access
Semantic Scholar
The Mechanisms App and Platform:
Julia E. Winter, Sarah E. Wegwerth, Brittland K. DeKorver, Layne A. Morsch +3 more
2019American Chemical Society Symposium Series (ACS)5 citations
Semantic Scholar
54. Prevention of Sensory Ataxia in a Novel Mouse Model of Friedreich Ataxia Using Gene Therapy Approach
F. Piguet, Charline de Montigny, Nadège Vaucamps, L. Reutenauer +1 more
20163 citations Open access
Semantic Scholar
Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich’s ataxia
Alain Martelli, Lisa S. Friedman, L. Reutenauer, Nadia Messaddeq +6 more
20123 citations
Semantic Scholar
High levels of frataxin overexpression leads to mitochondrial and cardiac toxicity in mouse models
Brahim Belbellaa, L. Reutenauer, N. Messaddeq, L. Monassier +1 more
2020bioRxiv1 citations Open access
Semantic Scholar
BAFF synthesis by rheumatoid synoviocytes is positively controled by integrin α5β1 stimulation and negatively regulated by TNF-α and TLR ligands. Alsaleh
A. Appert-Collin, A. Martelli, D. Simon, Vincent Paupe +4 more
20071 citations
Semantic Scholar
Physiologically Regulated Frataxin Gene Replacement Restores Neurological Function in a Mouse Model of Friedreich Ataxia.
Federica Pilotto, Laure Dall'Agnol, L. Reutenauer, Marie Paschaki +1 more
2026Human Gene Therapy0 citations
Semantic Scholar
Partial bypass of frataxin deficiency by ISCU M141I restores cytosolic and nuclear Fe-S cluster assembly.
Valentine Mosbach, N. Maio, Lucie Hermet, N. Diedhiou +8 more
2026Cell Death and Differentiation0 citations Open access
Semantic Scholar
Partial Bypass of Frataxin Deficiency by ISCU M141I Restores Cytosolic and Nuclear Fe–S Cluster Assembly
Valentine Mosbach, N. Maio, N. Diedhiou, Adèle Hennick +7 more
2025bioRxiv0 citations
Semantic Scholar
Characterization of a COQ8A-ataxia mouse model with E548K single-site mutation: distinct and comparable findings relative to a loss-of-function mutation
D. F. Gonçalves, Natacha Broyer, Maïté Carret Pierrat, Emmanuelle Sarzi Campillo +2 more
2025bioRxiv0 citations
Semantic Scholar
The Mechanisms App: Development of a New Learning Tool for Active Learning in Organic Chemistry
Julia E. Winter, Sarah E. Wegwerth, Brittland K. DeKorver, Layne A. Morsch +3 more
20190 citations Open access
Semantic Scholar
Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich’s ataxia
Alain Martelli, Lisa S. Friedman, L. Reutenauer, Nadia Messaddeq +6 more
20120 citations
Semantic Scholar
35 LINKAGE OF GENE FOR ISOLATED VITAMIN E DEFICIENCY SYNDROME (IVEDS) TO CHROMOSOME 8q IN A NORTH AMERICAN FAMILY
R. Sokol, W. K. Seltzer, L. Reutenauer, M. Koenig
1994Journal of Pediatric Gastroenterology and Nutrition - JPGN0 citations Open access
Semantic Scholar

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