Article
Cell Biology
Simge Kelekci, Abdullah Burak Yildiz, Kenan Sevinc, Deniz Ugurlu Cimen, Tamer Onder
Summary: This article discusses the current status and challenges of research on Friedreich's ataxia, with a focus on the application of animal models, patient-derived materials, and induced pluripotent stem cell models. The article explores the investigation of disease mechanisms and potential therapeutic agents for Friedreich's ataxia using these models.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Multidisciplinary Sciences
Lauren N. Miterko, Tao Lin, Joy Zhou, Meike E. van der Heijden, Jaclyn Beckinghausen, Joshua J. White, Roy Sillitoe
Summary: Deep brain stimulation (DBS) shows potential in improving motor function in a mouse model of ataxia, with the combination of cerebellar nuclei DBS and physical activity being particularly effective.
NATURE COMMUNICATIONS
(2021)
Article
Cell Biology
Yingying Zhao, Liangguo Xie, Chao Shen, Qian Qi, Yicai Qin, Juan Xing, Dejian Zhou, Yun Qi, Zhiqiang Yan, Xinhua Lin, Rongyang Dai, Jinzhong Lin, Wei Yu
Summary: Mutations in GARS affect the deacetylation activity of SIRT2 on alpha-tubulin, leading to CMT neuropathies, while reducing SIRT2 can rescue the disease and extend lifespan.
Article
Clinical Neurology
Christian Rummey, John M. Flynn, Louise A. Corben, Martin B. Delatycki, George Wilmot, Sub H. Subramony, Khalaf Bushara, Antoine Duquette, Christopher M. Gomez, J. Chad Hoyle, Richard Roxburgh, Lauren Seeberger, Grace Yoon, Katherine D. Mathews, Theresa Zesiewicz, Susan Perlman, David R. Lynch
Summary: Scoliosis is a common comorbidity in patients with Friedreich's ataxia, with early or typical onset patients having a higher risk of developing intermediate to severe scoliosis. Surgical intervention is often needed, especially in the most severe cases, with younger patients delaying surgery until the end of their growth period, leading to further progression of the condition. Age of onset before or after 15 years is a critical factor in determining the severity and progression of scoliosis in FRDA patients.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2021)
Article
Biochemistry & Molecular Biology
Astrid Buchberger, Lena Schepergerdes, Maren Flasshoff, Conrad Kunick, Reinhard W. Koester
Summary: This study established a zebrafish model expressing human Dyrk1A, demonstrating its expression in cerebellar neurons and its impact on neurological phenotypes. The model was shown to be valuable for studying severe neurological diseases with single cell type specificity.
JOURNAL OF BIOLOGICAL CHEMISTRY
(2021)
Article
Neurosciences
Dwayne J. Byrne, M. Elena Garcia-Pardo, Nelson B. Cole, Belguun Batnasan, Sophia Heneghan, Anood Sohail, Craig Blackstone, Niamh C. O'Sullivan
Summary: This study develops new models to study ER-shaping proteins and indicates that disrupted lipid homeostasis may contribute to the neurodegeneration in HSP. Treating lipid homeostasis may offer a potential novel therapeutic approach for this disorder.
ACTA NEUROPATHOLOGICA COMMUNICATIONS
(2022)
Article
Biochemistry & Molecular Biology
Dake Zhang, Jianying Shan, Boying Liang, Lichao Zhong, Hao Tang, Yifan Xu, Hui Jin, Yinfei Chen, Jie Shen
Summary: This study investigated the protective effect of the senolytic drug quercetin on blue light toxicity using Drosophila melanogaster as a model organism. The results showed that quercetin can effectively prolong the survival of flies under blue light irradiation, increase the egg production of female flies, and affect their spontaneous activity and nutrient metabolism in a sex-specific manner.
PHOTOCHEMISTRY AND PHOTOBIOLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Maria Jesus Valero, Jose L. Munoz-Blanco, Alejandro Garrido Sanchez, Gregorio Cuerpo, Javier Castrodeza, Paula Navas, Iago Sousa, Adolfo Villa, Francisco Fernandez-Aviles, Manuel Martinez-Selles
Summary: Limited information is available on heart transplantation in Friedreich's Ataxia patients, with a case presented here of a 58-year-old patient with advanced FA and severe heart conditions who underwent successful heart transplantation with several postoperative complications but was discharged successfully after nearly five months in the hospital.
JOURNAL OF CARDIOVASCULAR DEVELOPMENT AND DISEASE
(2022)
Article
Chemistry, Physical
Fabiola Panto, Zainab Dahrouch, Abhirup Saha, Salvatore Patane, Saveria Santangelo, Claudia Triolo
Summary: Zinc oxide nanofibers with rich defects were produced through a combination of electrospinning, calcination, and fast cooling. These nanofibers showed excellent photocatalytic properties, with defects at the nanoplatelet interface playing a crucial role in enhancing the photocatalytic activity. The investigated nanofibers outperformed most existing electrospun pure zinc oxide photocatalysts.
APPLIED SURFACE SCIENCE
(2021)
Article
Clinical Neurology
Layne N. Rodden, Christian Rummey, Sudha Kessler, Robert B. Wilson, David R. Lynch
Summary: Through linear regression and multivariable regression analysis, we developed a single metric, called disease burden (DB), that incorporates both GAA-TR length and DD to predict disease features of FRDA in small sample sizes. Using large datasets for validation, we found that DB predicts measures of neurological dysfunction in FRDA better than GAA-TR length or DD. Similar results were found using small datasets.
MOVEMENT DISORDERS
(2023)
Review
Clinical Neurology
Marinela Vavla, Filippo Arrigoni, Denis Peruzzo, Domenico Montanaro, Francesca Frijia, Silvia Pizzighello, Alberto De Luca, Emma Della Libera, Federica Tessarotto, Paola Guerra, Ian H. Harding, Andrea Martinuzzi
Summary: This systematic review provides a critical overview of fMRI studies in FRDA, highlighting the functional changes in cerebral and cerebellar brain regions and their correlations with clinical variables. The findings support the hypothesis of cerebro-cerebellar loop damage and compensatory mechanism in FRDA. However, addressing the limitations of fMRI studies is crucial for improving future designs and generalizability.
FRONTIERS IN NEUROLOGY
(2022)
Article
Biochemistry & Molecular Biology
Suran Nethisinghe, Maheswaran Kesavan, Heather Ging, Robyn Labrum, James M. Polke, Saiful Islam, Hector Garcia-Moreno, Martina F. Callaghan, Francesca Cavalcanti, Mark A. Pook, Paola Giunti
Summary: Studies have shown that small interruptions at the 3' end of the GAA repeat tract are more common in FRDA patients, with 3' interruptions being the most frequent. Patients with 3' interruptions are associated with shorter GAA1 repeat tracts and later ages at disease onset. Model predictions suggest that a 3' interruption may delay disease onset by approximately 9 years compared to patients lacking interruptions. This highlights the significant impact of 3' interruptions on modulating the disease phenotype and prognosis for the patient.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Medicine, General & Internal
Omidreza Amini, Rasool Lakziyan, Mahnaz Abavisani, Zohreh Sarchahi
Summary: Friedreich's Ataxia is an autosomal recessive disease characterized by heart disease and neurological dysfunction, with significant impact of the heart muscle disease on patients.
ANNALS OF MEDICINE AND SURGERY
(2021)
Article
Infectious Diseases
Kamil Faltin, Zuzanna Lewandowska, Pawel Malecki, Krzysztof Czyz, Emilia Szafran, Agnieszka Kowalska-Tupko, Anna Mania, Katarzyna Mazur-Melewska, Katarzyna Jonczyk-Potoczna, Waldemar Bobkowski, Magdalena Figlerowicz
Summary: This article presents a case of a 17-year-old boy with Friedreich's ataxia-induced hypertrophic cardiomyopathy who contracted COVID-19. Despite mild initial symptoms, the patient's condition deteriorated rapidly, requiring antiarrhythmic treatment, pharmacological intervention, and convalescent plasma therapy.
INTERNATIONAL JOURNAL OF INFECTIOUS DISEASES
(2022)
Article
Endocrinology & Metabolism
Muhammad Yasir Qureshi, Marc C. Patterson, Vicki Clark, Jonathan N. Johnson, Margaret A. Moutvic, Sherilyn W. Driscoll, Jennifer L. Kemppainen, John Huston, Jeff R. Anderson, Andrew D. Badley, Peter J. Tebben, Philip Wackel, Devin Oglesbee, James Glockner, George Schreiner, Sundeep Dugar, Jillienne C. Touchette, Ralitza H. Gavrilova
Summary: The study showed that (+)-Epicatechin can improve cardiac function and structure in patients with FRDA, but did not result in significant improvement in primary neurological outcomes.
JOURNAL OF INHERITED METABOLIC DISEASE
(2021)
Article
Biochemistry & Molecular Biology
Charif Rashka, Sebastien Hergalant, Natacha Dreumont, Abderrahim Oussalah, Jean-Michel Camadro, Virginie Marchand, Ziad Hassan, Matthias R. Baumgartner, David S. Rosenblatt, Francois Feillet, Jean-Louis Gueant, Justine Flayac, David Coelho
HUMAN MOLECULAR GENETICS
(2020)
Article
Biochemical Research Methods
Nicolas Senecaut, Gelio Alves, Hendrik Weisser, Laurent Lignieres, Samuel Terrier, Lilian Yang-Crosson, Pierre Poulain, Gaelle Lelandais, Yi-Kuo Yu, Jean-Michel Camadro
Summary: The SLIM labeling strategy is a novel method for quantifying proteome variations, using simple procedures and open-source software to facilitate the analysis of bottom-up proteomics data.
JOURNAL OF PROTEOME RESEARCH
(2021)
Article
Hematology
Brittany Balint, Sebastien Hergalant, Jean-Michel Camadro, Sebastien Blaise, Laetitia Vanalderwiert, Laurent Lignieres, Rosa-Maria Gueant-Rodriguez, Jean-Louis Gueant
Summary: The study explores the impact of MDD fetal programming on the ascending aorta in aged rats, revealing significant alterations in structure and integrity, especially in elastin breaks which are inversely correlated with blood pressure. These findings contribute to understanding why homocysteine-lowering vitamin B supplementation fails to alleviate vascular complications in adulthood.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Elodie Martin, Raheleh Heidari, Veronique Monnier, Herve Tricoire
Summary: Study found that partial nej/dCBP depletion in adult Drosophila glial cells can protect against mutant huntingtin-induced pathology, leading to increased lifespan and restored locomotor activity. This discovery reveals a contrasting impact of HD pathology in glial cells compared to neurons, suggesting that combinatorial approaches combined with specific tissue targeting may be key to identifying effective therapies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Biotechnology & Applied Microbiology
Elisa Violeta Bertini, Mariela Analia Torres, Thibaut Leger, Camille Garcia, Kar-Wai Hong, Teik Min Chong, Lucia Castellanos de Figueroa, Kok-Gan Chan, Yves Dessaux, Jean-Michel Camadro, Carlos Gabriel Nieto-Penalver
Summary: The study focused on the quorum sensing (QS) systems of A. tumefaciens strain 6N2 and its interaction with the yeast Meyerozyma guilliermondii. The nonpathogenic strain 6N2 produces multiple QS signals and has a complex QS architecture. Proteomic analysis revealed differences in QS-regulated proteins between pure and dual cultures, with some proteins consistently regulated by quorum sensing. QS activity also influenced the expression of proteins in M. guilliermondii, highlighting the importance of QS regulation in bacteria-yeast interactions.
Article
Cell Biology
Jinmei Cheng, Edward S. Allgeyer, Jennifer H. Richens, Edo Dzafic, Amandine Palandri, Bohdan Lewkow, George Sirinakis, Daniel St Johnston
Summary: The line scanning microscope provides optical sectioning for single-molecule localization microscopy (SMLM) in tissues, achieving high-resolution imaging of nuclear pores and F-actin. The study reveals nonrandom distribution of nuclear pores in most Drosophila tissues, in contrast to what is observed in cultured cells. Lamin Dm(0) shows complementary localization to the nuclear pores, while ectopic expression of tissue-specific Lamin C leads to more random distribution of nuclear pores.
JOURNAL OF CELL SCIENCE
(2021)
Article
Biology
Thibault Poinsignon, Melina Gallopin, Jean-Michel Camadro, Pierre Poulain, Gaelle Lelandais
Summary: In this study, we combined the classical representation of transcriptional regulatory networks with a more realistic model of the spatial organization of the yeast Saccharomyces cerevisiae genome in the nucleus to search for additional information. By analyzing all transcriptional modules in the YEASTRACT database, we observed significant spatial co-localizations of certain sets of target genes. To facilitate reproducibility, we developed an interactive web tool called 3D-Scere.
BMC RESEARCH NOTES
(2022)
Article
Biology
Pierre Poulain, Jean-Michel Camadro
Summary: This article presents an online tool called AutoClassWeb, which provides an easy-to-use web interface for implementing the Bayesian clustering algorithm to classify and further analyze genes or proteins in genomics and proteomics.
BMC RESEARCH NOTES
(2022)
Article
Oncology
Elie Hatem, Nadine El Banna, Amelie Heneman-Masurel, Dorothee Baille, Laurence Vernis, Sylvie Riquier, Marie-Pierre Golinelli-Cohen, Olivier Guittet, Cindy Vallieres, Jean-Michel Camadro, Xue Qiu, Niko Hildebrandt, Michel Lepoivre, Meng-Er Huang
Summary: Auranofin (AUF) is a gold complex that has shown potential as a repurposed therapy for multiple diseases, including cancer. The main anticancer mechanism of AUF is the inhibition of thioredoxin reductase (TrxR), but other complex and multifaceted modes of action have also been observed. This study found that AUF had variable cytotoxicity in different triple-negative breast cancer cell lines and that TrxR inhibition alone may not be sufficient to induce cell death. Cytotoxic doses of AUF caused oxidative stress and affected various pathways related to cell proliferation, cell cycle, cell-cell adhesion, and cytoskeleton structure. These findings provide new insights into the redox-based mechanisms of AUF as an anticancer molecule.
Article
Biochemistry & Molecular Biology
Bayot Juliette, Martin Caroline, Chevreux Guillaume, Camadro Jean-Michel, Auchere Francoise
Summary: Candida albicans adapts to host microenvironments by remodeling metabolic pathways and antioxidant defenses in response to changes in carbon sources. Glucose, acetate, and lactate induce unique patterns of response in C. albicans cells. The role of cellular redox status regulation and defenses against oxidative stress, including thiol-and glutathione-dependent response, in the adaptive response of C. albicans to alternative carbon sources should be reconsidered.
BIOCHEMICAL JOURNAL
(2023)
Article
Biochemical Research Methods
Laurent Lignieres, Veronique Legros, Manel Khelil, Nicolas Senecaut, Matthew A. Lauber, Jean-Michel Camadro, Guillaume Chevreux
Summary: In top-down proteomics, intact protein ions are fragmented for MS analysis. This approach has been used to study post-translational modifications and clipped forms of proteins. In this study, a silica-based media with phenyl bonding was used in capillary columns for top-down proteomics, and efficient separations were achieved for diverse proteins.
JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES
(2023)
Article
Plant Sciences
Elena Kazamia, Jan Mach, Jeffrey B. McQuaid, Xia Gao, Tyler H. Coale, Ronald Malych, Jean-Michel Camadro, Emmanuel Lesuisse, Andrew E. Allen, Chris Bowler, Robert Sutak
Summary: This study investigates the localization and dynamics of iron starvation induced proteins (ISIPs) in the model pennate diatom P. tricornutum. The results show that the localization patterns of ISIPs are dependent on the overall iron status of the cell and the source of iron. The study also identifies the involvement of endocytosis machinery in vesicular trafficking and suggests a direct vesicle traffic connection between the diatom cell membrane and the periplastidial compartment (PPC) for proteins involved in iron assimilation.
Article
Biochemical Research Methods
Laurent Lignieres, Nicolas Senecaut, Tien Dang, Laura Bellutti, Marion Hamon, Samuel Terrier, Veronique Legros, Guillaume Chevreux, Gaelle Lelandais, Rene-Marc Mege, Julien Dumont, Jean-Michel Camadro
Summary: The simple light isotope metabolic-labeling technique utilizes U-[12C]-labeled molecules as the sole carbon source for in vivo biosynthesis of amino acids, resulting in the incorporation of U-[12C]-amino acids into proteins. This technique has advantages for mass-spectrometry-based proteomics analysis, providing more intense monoisotopic ions and a better signal-to-noise ratio. The technique has been successfully applied to eukaryotic microorganisms and human cells, as well as an indirect labeling strategy in a nematode model organism.
JOURNAL OF PROTEOME RESEARCH
(2023)
Article
Genetics & Heredity
Thomas Denecker, Youfang Zhou Li, Cecile Fairhead, Karine Budin, Jean-Michel Camadro, Monique Bolotin-Fukuhara, Adela Angoulvant, Gaelle Lelandais
NAR GENOMICS AND BIOINFORMATICS
(2020)
Review
Microbiology
Robert Sutak, Jean-Michel Camadro, Emmanuel Lesuisse
FRONTIERS IN MICROBIOLOGY
(2020)