Cell Biology, Histology, Electron microscopy, Neurosciences, Organelle trafficking, Mitochondrial pathologies
85
Scopus Publications
9084
Scholar Citations
43
Scholar h-index
69
Scholar i10-index
Scopus Publications
Inhibition of ceramide synthesis ameliorates body wasting in a cancer cachexia model Pauline Morigny, Honglei Ji, Laura Cussonneau, Sabrina Zorzato, Yun Kwon, Fabien Riols, Doris Kaltenecker, Alisa Maier, Vignesh Karthikaisamy, Samantha Corrà, Tanja Krauss, Claudine Seeliger, Syed Qaaifah Gillani, Joël J. Tissink, Sandra Lacas-Gervais, Tuna Felix Samanci, Adriano Maida, Raul Terron-Exposito, Angela Trinca, Christine von Toerne, Leonardo Nogara, Melina Claussnitzer, Olga Prokopchuk, Jeannine Bachmann, Mauricio Berriel Diaz, Laure B. Bindels, Ondrej Kuda, Hans Hauner, Mark Haid, Stephan Herzig, Carlo Fiore Viscomi, Jerome Gilleron, Anja Zeigerer, Bert Blaauw, Maria Rohm Journal of Clinical Investigation, 2026 Cachexia is a metabolic wasting syndrome affecting many patients with cancer, with poor survival outcomes. Disturbed lipid metabolism is a hallmark of cachexia, and our previous work has identified increased levels of circulating ceramides, which are bioactive lipids with adverse effects in metabolic diseases, as biomarkers for cachexia in mouse models and patients. Here, we investigated the role of ceramides on cachexia development using the well-established C26 colon carcinoma model. We demonstrated that elevated ceramides in cachexia arose from increased liver synthesis. We showed that ceramides directly contributed to impaired mitochondrial function and energy homeostasis in cachexia target tissues. Targeting ceramide synthesis using miRNA interference, or myriocin, an approved compound targeting the key synthesis enzyme serine palmitoyltransferase (SPT), improved markers of muscle atrophy in cachectic male mice. Importantly, we demonstrated that key enzymes involved in ceramide production were also elevated in livers, but not in other organs, of patients with cancer cachexia, correlating with disease severity. Our data place ceramides as contributors to metabolic dysfunction in cachexia and highlight the suitability of the ceramide synthesis pathway for therapeutic targeting. High circulating ceramides define cancer cachexia in mice and patients. Targeting ceramide synthesis counteracts mitochondrial dysfunction, impaired energy homeostasis and muscle atrophy in cachectic mice.
EFA6A regulates retinal function through the control of photoreceptor cell activity and structure Sophie Abélanet, Sophie Pagnotta, Frédéric Brau, Marie Péquignot, Valérie Scheuermann, Sandra Lacas-Gervais, Carole Rovere, Alain Corinus, Lætitia Della-Croce, Cécile Delettre, Frédéric Luton, Michel Franco Iscience, 2026 The initial step in visual perception, i.e., the collection of light, is carried out by the outer segments of photoreceptor cells. These outer segments, specialized primary cilia, house the photopigments that absorb photons. Here, we report that EFA6A, an exchange factor for the small G protein Arf6, previously described as a regulator of early ciliogenesis by promoting distal appendage vesicle fusion, is essential for visual function. We demonstrate that EFA6A is present in various layers of the mouse retina, including the photoreceptors and the retinal pigment epithelium (RPE). Accordingly, depletion of EFA6A in the mouse retina leads to both morphological and functional defects in photoreceptors, resembling the phenotypes observed in retinal ciliopathies. We also show that EFA6A depletion in RPE cells severely impairs their phagocytic activity. Thus, our results point out a key role for EFA6A in the control of visual activity.
Human mammary 3D spheroid models uncover the role of filopodia in breaching the basement membrane to facilitate invasion Alain Corinus, Sophie Abélanet, Julia Dubreuil, Zhenyu Zhu, Sabrina Pisano, Christelle Boscagli, Anne-Sophie Gay, Delphine Debayle, Marin Truchi, Kevin Lebrigand, Sandra Lacas-Gervais, Frédéric Brau, Xavier Descombes, Patricia Rousselle, Michel Franco, Frédéric Luton Matrix Biology, 2026 • The basement membrane (BM) directs epithelial tissue architecture and behavior. How tumor cells breach this barrier during invasion remains poorly understood. Using minimalist 3D spheroid models mimicking physiological BM assembly, we reveal a novel infiltration mechanism. Filopodia-like protrusions perforate and widen BM pores. This facilitates cell dissemination through sequential protease-independent and -dependent steps. Basement membranes (BM) are thin, nanoporous sheets of specialized extracellular matrix (ECM) that line epithelial tissues. They are dynamic structures that serve multiple key functions, as evidenced by numerous diseases, including cancer progression, that are associated with their alterations. Our understanding of the BM and its communication with adjoining epithelial cells remains highly fragmented due to the BM’s complex molecular architecture, the lack of molecular tools, limitations in utilizing high-resolution imaging techniques to BMs assembled on tissues, and the difficulty of assessing their functional contributions in vivo . Here, by combining multiple -omics analyses and advanced microscopy methodologies, we characterized the BM from two normal human mammary epithelial cell lines, MCF10 and HMLE, grown as spheroids in 3D matrices. Our findings indicate that the spheroids autonomously assemble a BM exhibiting all the molecular, structural, and biophysical characteristics of physiological BM. Using these minimalist model systems, we provide evidence that collagen IV, laminins, perlecan, and hemidesmosomes all overlap in a shared porous lattice. Next, we demonstrate that the invasion-promoting PSD4 /EFA6B knockout, found in patients with breast cancer, decreases the expression of BM components and their assembly on the spheroid surface. We then show that invasive spheroids develop enlarged pores in the BM via filopodia-like plasma membrane extensions, which further expand in a protease-dependent manner, thereby facilitating the passage of invasive cells.
Hampered AMPK-ULK1 cascade in Alzheimer’s disease (AD) instigates mitochondria dysfunctions and AD-related alterations which are alleviated by metformin Arnaud Mary, Samantha Barale, Fanny Eysert, Audrey Valverde, Sandra Lacas-Gervais, Charlotte Bauer, Sabiha Eddarkaoui, Luc Buée, Valérie Buée-Scherrer, Frédéric Checler, Mounia Chami Alzheimer S Research and Therapy, 2025 The adenosine monophosphate-activated protein kinase (AMPK) and its downstream effector Unc-51 like autophagy activating kinase 1 (ULK1) represent a key cellular signaling node, the alteration of which likely contribute to AD development. This study investigated the AMPK-ULK1 pathway activation state in AD and the impact of its modulation on mitochondria structure and function as well as on AD-related alterations. We show in human sporadic AD and 3xTgAD mice brains a defective activating phosphorylation of ULK1 despite the active phosphorylation of AMPK. In addition, we reported defective p-AMPK and p-ULK1 in cells expressing the amyloid precursor protein with the familial Swedish mutation. We then show that the antidiabetic metformin (Met) drug-mediated AMPK-ULK1 cascade activation alleviates structural and functional mitochondrial abnormalities in AD cells and mice brains. Furthermore, in the 3xTgAD brains, it reduces the early accumulation of APP C-terminal fragments (APP-CTFs) as well as amyloid beta (Aβ) burden, microgliosis and astrogliosis occurring at a later disease stage. AMPK-ULK1 activation increases the localization of APP-CTFs within cathepsin D-positive lysosomal compartments and the recruitment of Iba1+ cells to Aβ plaques in vivo and enhances cathepsin D activity and phagocytic activity of microglia in vitro. Additionally, AMPK-ULK1 activation normalizes dendritic spine morphology in organotypic hippocampal slice cultures modeling AD and alleviates learning deficit in symptomatic 3xTgAD mice. Our study demonstrates potential therapeutic benefits of targeting AMPK-ULK1 cascade to reverse both early and late AD-related alterations, deserving further investigation in fundamental research and in human clinical studies.
Nifuroxazide rescues the deleterious effects due to CHCHD10-associated MICOS defects in disease models Baptiste Ropert, Sylvie Bannwarth, Emmanuelle C Genin, Loan Vaillant-Beuchot, Sandra Lacas-Gervais, Blandine Madji Hounoum, Aurore Bernardin, Nhu Dinh, Alessandra Mauri-Crouzet, Marc-Alexandre D’Elia, Gaelle Augé, Françoise Lespinasse, Audrey Di Giorgio, Willian Meira, Nathalie Bonnefoy, Laurent Monassier, Manuel Schiff, Laila Sago, Devrim Kilinc, Frédéric Brau, Virginie Redeker, Delphine Bohl, Déborah Tribouillard-Tanvier, Vincent Procaccio, Stéphane Azoulay, Jean-Ehrland Ricci, Agnès Delahodde, Véronique Paquis-Flucklinger Brain, 2025 The identification of a point mutation (p.Ser59Leu) in the CHCHD10 gene was the first genetic evidence that mitochondrial dysfunction can trigger motor neuron disease. Since then, we have shown that this mutation leads to the disorganization of the MItochondrial contact site and Cristae Organizing System (MICOS) complex that maintains the mitochondrial cristae structure. Here, we generated yeast mutant strains mimicking MICOS instability and used them to test the ability of more than 1600 compounds from two repurposed libraries to rescue the growth defect of those cells. Among the hits identified, we selected nifuroxazide, a broad-spectrum antibacterial molecule. We show that nifuroxazide rescues mitochondrial network fragmentation and cristae abnormalities in CHCHD10S59L/+ patient fibroblasts. This molecule also decreases caspase-dependent death of human CHCHD10S59L/+ induced pluripotent stem cell-derived motor neurons. Its benefits involve KIF5B-mediated mitochondrial transport enhancement, evidenced by increased axonal movement and syntaphilin degradation in patient-derived motor neurons. Our findings strengthen the MICOS-mitochondrial transport connection. Nifuroxazide and analogues emerge as potential therapeutics for MICOS-related disorders like motor neuron disease. Its impact on syntaphilin hints at broader neurological disorder applicability for nifuroxazide.
Golgi-associated retrograde protein (GARP) complex-dependent endosomes to trans Golgi network retrograde trafficking is controlled by Rab4b Jérôme Gilleron, Abderrahman Chafik, Sandra Lacas-Gervais, Jean-François Tanti, Mireille Cormont Cellular and Molecular Biology Letters, 2024 Background The trafficking of cargoes from endosomes to the trans-Golgi network requires numerous sequential and coordinated steps. Cargoes are sorted into endosomal-derived carriers that are transported, tethered, and fused to the trans-Golgi network. The tethering step requires several complexes, including the Golgi-associated retrograde protein complex, whose localization at the trans-Golgi network is determined by the activity of small GTPases of the Arl and Rab family. However, how the Golgi-associated retrograde protein complex recognizes the endosome-derived carriers that will fuse with the trans-Golgi network is still unknown. Methods We studied the retrograde trafficking to the trans-Golgi network by using fluorescent cargoes in cells overexpressing Rab4b or after Rab4b knocked-down by small interfering RNA in combination with the downregulation of subunits of the Golgi-associated retrograde protein complex. We used immunofluorescence and image processing (Super Resolution Radial Fluctuation and 3D reconstruction) as well as biochemical approaches to characterize the consequences of these interventions on cargo carriers trafficking. Results We reported that the VPS52 subunit of the Golgi-associated retrograde protein complex is an effector of Rab4b. We found that overexpression of wild type or active Rab4b increased early endosomal to trans-Golgi network retrograde trafficking of the cation-independent mannose-6-phosphate receptor in a Golgi-associated retrograde protein complex-dependent manner. Conversely, overexpression of an inactive Rab4b or Rab4b knockdown attenuated this trafficking. In the absence of Rab4b, the internalized cation-independent mannose 6 phosphate receptor did not have access to VPS52-labeled structures that look like endosomal subdomains and/or endosome-derived carriers, and whose subcellular distribution is Rab4b-independent. Consequently, the cation-independent mannose-6-phosphate receptor was blocked in early endosomes and no longer had access to the trans-Golgi network. Conclusion Our results support that Rab4b, by controlling the sorting of the cation-independent mannose-6-phosphate receptor towards VPS52 microdomains, confers a directional specificity for cargo carriers en route to the trans-Golgi network. Given the importance of the endocytic recycling in cell homeostasis, disruption of the Rab4b/Golgi-associated retrograde protein complex-dependent step could have serious consequences in pathologies.
Characterization of atypical BAR domain-containing proteins coded by Toxoplasma gondii Noha Al-Qatabi, Maud Magdeleine, Sophie Pagnotta, Amélie Leforestier, Jéril Degrouard, Ana Andreea Arteni, Sandra Lacas-Gervais, Romain Gautier, Guillaume Drin Journal of Biological Chemistry, 2024 Toxoplasma gondii, the causative agent of toxoplasmosis, infects cells and replicates inside via the secretion of factors stored in specialized organelles (rhoptries, micronemes, and dense granules) and the capture of host materials. The genesis of the secretory organelles and the processes of secretion and endocytosis depend on vesicular trafficking events whose molecular bases remain poorly known. Notably, there is no characterization of the BAR (Bin/Amphiphysin/Rvs) domain-containing proteins expressed by T. gondii and other apicomplexans, although such proteins are known to play critical roles in vesicular trafficking in other eukaryotes. Here, by combining structural analyses with in vitro assays and cellular observations, we have characterized TgREMIND (regulators of membrane interacting domains), involved in the genesis of rhoptries and dense granules, and TgBAR2 found at the parasite cortex. We establish that TgREMIND comprises an F-BAR domain that can bind curved neutral membranes with no strict phosphoinositide requirement and exert a membrane remodeling activity. Next, we establish that TgREMIND contains a new structural domain called REMIND, which negatively regulates the membrane-binding capacities of the F-BAR domain. In parallel, we report that TgBAR2 contains a BAR domain with an extremely basic membrane-binding interface able to deform anionic membranes into very narrow tubules. Our data show that T. gondii codes for two atypical BAR domain-containing proteins with very contrasting membrane-binding properties, allowing them to function in two distinct regions of the parasite trafficking system.
Mitochondrial alterations in fibroblasts from sporadic Alzheimer's disease (AD) patients correlate with AD-related clinical hallmarks Fanny Eysert, Paula-Fernanda Kinoshita, Julien Lagarde, Sandra Lacas-Gervais, Laura Xicota, Guillaume Dorothée, Michel Bottlaender, Frédéric Checler, Marie-Claude Potier, Marie Sarazin, Mounia Chami Acta Neuropathologica Communications, 2024 Mitochondrial dysfunctions are key features of Alzheimer’s disease (AD). The occurrence of these disturbances in the peripheral cells of AD patients and their potential correlation with disease progression are underinvestigated. We studied mitochondrial structure, function and mitophagy in fibroblasts from healthy volunteers and AD patients at the prodromal (AD-MCI) or demented (AD-D) stages. We carried out correlation studies with clinical cognitive scores, namely, (i) Mini-Mental State Examination (MMSE) and (ii) Dementia Rating-Scale Sum of Boxes (CDR-SOB), and with (iii) amyloid beta (Aβ) plaque burden (PiB-PET imaging) and (iv) the accumulation of peripheral amyloid precursor protein C-terminal fragments (APP-CTFs). We revealed alterations in mitochondrial structure as well as specific mitochondrial dysfunction signatures in AD-MCI and AD-D fibroblasts and revealed that defective mitophagy and autophagy are linked to impaired lysosomal activity in AD-D fibroblasts. We reported significant correlations of a subset of these dysfunctions with cognitive decline, AD-related clinical hallmarks and peripheral APP-CTFs accumulation. This study emphasizes the potential use of peripheral cells for investigating AD pathophysiology.
A Potent Solution for Tumor Growth and Angiogenesis Suppression via an ELR+CXCL-CXCR1/2 Pathway Inhibitor Oleksandr Grytsai, Maeva Dufies, Julie Le Du, Olivia Rastoin, Leticia Christina Pires Gonçalves, Lou Mateo, Sandra Lacas-Gervais, Yihai Cao, Luc Demange, Gilles Pagès, Rachid Benhida, Cyril Ronco ACS Medicinal Chemistry Letters, 2024 CXCR1/2 biomolecules play vital roles in cancer cell proliferation, tumor inflammation, and angiogenesis, making them attractive drug targets. In clear cell renal cell carcinoma (RCC) and head and neck squamous cell carcinoma (HNSCC), where CXCR1/2 is overexpressed, inhibition studies are limited. Building upon previous research efforts, we investigated new N,N′-diarylurea analogues as ELR+CXCL-CXCR1/2 inhibitors. Evaluations on RCC and HNSCC cell lines and 3D spheroid cultures identified compound 10 as a lead molecule, exhibiting significant inhibition of invasion, migration, and neo-angiogenesis. It demonstrated strong interference with the signaling pathway, with high selectivity toward kinases. In vivo studies on zebrafish embryos and RCC xenografted mice showed notable anticancer, antimetastatic, and antiangiogenic effects after oral administration and minimal toxicity. Compound 10 emerges as a promising candidate for further preclinical development as an oral anticancer and antiangiogenic drug targeting the ELR+CXCL-CXCR1/2 pathway.
Bax Inhibitor-1 preserves pancreatic β-cell proteostasis by limiting proinsulin misfolding and programmed cell death Marina Blanc, Lama Habbouche, Peng Xiao, Cynthia Lebeaupin, Marion Janona, Nathalie Vaillant, Marie Irondelle, Jérôme Gilleron, Florent Murcy, Déborah Rousseau, Carmelo Luci, Thibault Barouillet, Sandrine Marchetti, Sandra Lacas-Gervais, Laurent Yvan-Charvet, Philippe Gual, Alessandra K. Cardozo, Béatrice Bailly-Maitre Cell Death and Disease, 2024 The prevalence of diabetes steadily increases worldwide mirroring the prevalence of obesity. Endoplasmic reticulum (ER) stress is activated in diabetes and contributes to β-cell dysfunction and apoptosis through the activation of a terminal unfolded protein response (UPR). Our results uncover a new role for Bax Inhibitor-One (BI-1), a negative regulator of inositol-requiring enzyme 1 (IRE1α) in preserving β-cell health against terminal UPR-induced apoptosis and pyroptosis in the context of supraphysiological loads of insulin production. BI-1-deficient mice experience a decline in endocrine pancreatic function in physiological and pathophysiological conditions, namely obesity induced by high-fat diet (HFD). We observed early-onset diabetes characterized by hyperglycemia, reduced serum insulin levels, β-cell loss, increased pancreatic lipases and pro-inflammatory cytokines, and the progression of metabolic dysfunction. Pancreatic section analysis revealed that BI-1 deletion overburdens unfolded proinsulin in the ER of β-cells, confirmed by ultrastructural signs of ER stress with overwhelmed IRE1α endoribonuclease (RNase) activity in freshly isolated islets. ER stress led to β-cell dysfunction and islet loss, due to an increase in immature proinsulin granules and defects in insulin crystallization with the presence of Rod-like granules. These results correlated with the induction of autophagy, ER phagy, and crinophagy quality control mechanisms, likely to alleviate the atypical accumulation of misfolded proinsulin in the ER. In fine, BI-1 in β-cells limited IRE1α RNase activity from triggering programmed β-cell death through apoptosis and pyroptosis (caspase-1, IL-1β) via NLRP3 inflammasome activation and metabolic dysfunction. Pharmaceutical IRE1α inhibition with STF-083010 reversed β-cell failure and normalized the metabolic phenotype. These results uncover a new protective role for BI-1 in pancreatic β-cell physiology as a stress integrator to modulate the UPR triggered by accumulating unfolded proinsulin in the ER, as well as autophagy and programmed cell death, with consequences on β-cell function and insulin secretion.
UBTD1 regulates ceramide balance and endolysosomal positioning to coordinate EGFR signaling Stéphanie Torrino, Victor Tiroille, Bastien Dolfi, Maeva Dufies, Charlotte Hinault, Laurent Bonesso, Sonia Dagnino, Jennifer Uhler, Marie Irondelle, Anne-sophie Gay, Lucile Fleuriot, Delphine Debayle, Sandra Lacas-Gervais, Mireille Cormont, Thomas Bertero, Frederic Bost, Jerome Gilleron, Stephan Clavel Elife, 2021
EFA6A, an exchange factor for Arf6, regulates early steps in ciliogenesis Mariagrazia Partisani, Carole L. Baron, Rania Ghossoub, Racha Fayad, Sophie Pagnotta, Sophie Abélanet, Eric Macia, Frédéric Brau, Sandra Lacas-Gervais, Alexandre Benmerah, Frédéric Luton, Michel Franco Journal of Cell Science, 2021
Evidences of a direct relationship between cellular fuel supply and ciliogenesis regulated by hypoxic VDAC1-ΔC Monique Meyenberg Cunha-de Padua, Lucilla Fabbri, Maeva Dufies, Sandra Lacas-Gervais, Julie Contenti, Charles Voyton, Sofia Fazio, Marie Irondelle, Baharia Mograbi, Matthieu Rouleau, Nirvana Sadaghianloo, Amandine Rovini, Catherine Brenner, William J. Craigen, Jérôme Bourgeais, Olivier Herault, Frédéric Bost, Nathalie M. Mazure Cancers, 2020
Hepatic FNDC5 is a potential local protective factor against Non-Alcoholic Fatty Liver Clémence M. Canivet, Stéphanie Bonnafous, Déborah Rousseau, Pierre S. Leclere, Sandra Lacas-Gervais, Stéphanie Patouraux, Arnaud Sans, Carmelo Luci, Béatrice Bailly-Maitre, Antonio Iannelli, Albert Tran, Rodolphe Anty, Philippe Gual Biochimica Et Biophysica Acta Molecular Basis of Disease, 2020
REDD1 deficiency protects against nonalcoholic hepatic steatosis induced by high-fat diet Karine Dumas, Chaima Ayachi, Jerome Gilleron, Sandra Lacas‐Gervais, Faustine Pastor, François B. Favier, Pascal Peraldi, Nathalie Vaillant, Laurent Yvan‐Charvet, Stéphanie Bonnafous, Stéphanie Patouraux, Rodolphe Anty, Albert Tran, Philippe Gual, Mireille Cormont, Jean‐François Tanti, Sophie Giorgetti‐Peraldi FASEB Journal, 2020
Identification of a new aggressive axis driven by ciliogenesis and absence of VDAC1-ΔC in clear cell Renal Cell Carcinoma patients Lucilla Fabbri, Maeva Dufies, Sandra Lacas-Gervais, Betty Gardie, Sophie Gad-Lapiteau, Julien Parola, Nicolas Nottet, Monique Meyenberg Cunha de Padua, Julie Contenti, Delphine Borchiellini, Jean-Marc Ferrero, Nathalie Rioux Leclercq, Damien Ambrosetti, Baharia Mograbi, Stéphane Richard, Julien Viotti, Emmanuel Chamorey, Nirvana Sadaghianloo, Matthieu Rouleau, William J. Craigen, Bernard Mari, Stéphan Clavel, Gilles Pagès, Jacques Pouysségur, Frédéric Bost, Nathalie M. Mazure Theranostics, 2020
TMEM33 regulates intracellular calcium homeostasis in renal tubular epithelial cells Malika Arhatte, Gihan S. Gunaratne, Charbel El Boustany, Ivana Y. Kuo, Céline Moro, Fabrice Duprat, Magali Plaisant, Hélène Duval, Dahui Li, Nicolas Picard, Anais Couvreux, Christophe Duranton, Isabelle Rubera, Sophie Pagnotta, Sandra Lacas-Gervais, Barbara E. Ehrlich, Jonathan S. Marchant, Aaron M. Savage, Fredericus J. M. van Eeden, Robert N. Wilkinson, Sophie Demolombe, Eric Honoré, Amanda Patel Nature Communications, 2019
LAMP2 expression dictates azacytidine response and prognosis in MDS/AML Alix Dubois, Nathan Furstoss, Anne Calleja, Marwa Zerhouni, Thomas Cluzeau, Coline Savy, Sandrine Marchetti, Mohamed Amine Hamouda, Sonia Boulakirba, François Orange, Sandra Lacas-Gervais, Jean-Michel Karsenti, Nicolas Mounier, Jérôme Tamburini, Alexandre Puissant, Frederic Luciano, Arnaud Jacquel, Patrick Auberger, Guillaume Robert Leukemia, 2019
Inactivation of Pif1 helicase causes a mitochondrial myopathy in mice Sylvie Bannwarth, Laetitia Berg-Alonso, Gaëlle Augé, Konstantina Fragaki, Jill E. Kolesar, Françoise Lespinasse, Sandra Lacas-Gervais, Fanny Burel-Vandenbos, Elodie Villa, Frances Belmonte, Jean-François Michiels, Jean-Ehrland Ricci, Romain Gherardi, Lea Harrington, Brett A. Kaufman, Véronique Paquis-Flucklinger Mitochondrion, 2016
Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China Sylvie Bannwarth, Samira Ait-El-Mkadem, Annabelle Chaussenot, Emmanuelle C. Genin, Sandra Lacas-Gervais, Konstantina Fragaki, Laetitia Berg-Alonso, Yusuke Kageyama, Valérie Serre, David Moore, Annie Verschueren, Cécile Rouzier, Isabelle Le Ber, Gaëlle Augé, Charlotte Cochaud, Françoise Lespinasse, Karine N’Guyen, Anne de Septenville, Alexis Brice, Patrick Yu-Wai-Man, Hiromi Sesaki, Jean Pouget, Véronique Paquis-Flucklinger Brain, 2016
CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis Emmanuelle C Genin, Morgane Plutino, Sylvie Bannwarth, Elodie Villa, Eugenia Cisneros‐Barroso, Madhuparna Roy, Bernardo Ortega‐Vila, Konstantina Fragaki, Françoise Lespinasse, Estefania Pinero‐Martos, Gaëlle Augé, David Moore, Florence Burté, Sandra Lacas‐Gervais, Yusuke Kageyama, Kie Itoh, Patrick Yu‐Wai‐Man, Hiromi Sesaki, Jean‐Ehrland Ricci, Cristofol Vives‐Bauza, Véronique Paquis‐Flucklinger EMBO Molecular Medicine, 2016
Reply: Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis? Sylvie Bannwarth, Samira Ait-El-Mkadem, Annabelle Chaussenot, Emmanuelle C. Genin, Sandra Lacas-Gervais, Konstantina Fragaki, Laetitia Berg-Alonso, Yusuke Kageyama, Valérie Serre, David Moore, Annie Verschueren, Cécile Rouzier, Isabelle Le Ber, Gaëlle Augé, Charlotte Cochaud, Françoise Lespinasse, Karine N’Guyen, Anne de Septenville, Alexis Brice, Patrick Yu-Wai-Man, Hiromi Sesaki, Jean Pouget, Véronique Paquis-Flucklinger Brain, 2015
Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation Sylvie Bannwarth, Samira Ait-El-Mkadem, Annabelle Chaussenot, Emmanuelle C. Genin, Sandra Lacas-Gervais, Konstantina Fragaki, Laetitia Berg-Alonso, Yusuke Kageyama, Valérie Serre, David Moore, Annie Verschueren, Cécile Rouzier, Isabelle Le Ber, Gaëlle Augé, Charlotte Cochaud, Françoise Lespinasse, Karine N’Guyen, Anne de Septenville, Alexis Brice, Patrick Yu-Wai-Man, Hiromi Sesaki, Jean Pouget, Véronique Paquis-Flucklinger Brain, 2015
Reply: CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis Sylvie Bannwarth, Samira Ait-El-Mkadem, Annabelle Chaussenot, Emmanuelle C. Genin, Sandra Lacas-Gervais, Konstantina Fragaki, Laetitia Berg-Alonso, Yusuke Kageyama, Valérie Serre, David Moore, Annie Verschueren, Cécile Rouzier, Isabelle Le Ber, Gaëlle Augé, Charlotte Cochaud, Françoise Lespinasse, Karine N’Guyen, Anne de Septenville, Alexis Brice, Patrick Yu-Wai-Man, Hiromi Sesaki, Jean Pouget, Véronique Paquis-Flucklinger Brain, 2015
Hypoxia inhibits cavin-1 and cavin-2 expression and down-regulates caveolae in adipocytes Claire Regazzetti, Karine Dumas, Sandra Lacas-Gervais, Faustine Pastor, Pascal Peraldi, Stéphanie Bonnafous, Isabelle Dugail, Soazig Le Lay, Philippe Valet, Yannick Le Marchand-Brustel, Albert Tran, Philippe Gual, Jean-François Tanti, Mireille Cormont, Sophie Giorgetti-Peraldi Endocrinology United States, 2015
Local mitochondrial-endolysosomal microfusion cleaves voltage- dependent anion channel 1 to promote survival in hypoxia M. Christiane Brahimi-Horn, Sandra Lacas-Gervais, Ricardo Adaixo, Karine Ilc, Matthieu Rouleau, Annick Notte, Marc Dieu, Carine Michiels, Thibault Voeltzel, Véronique Maguer-Satta, Joffrey Pelletier, Marius Ilie, Paul Hofman, Bénédicte Manoury, Alexander Schmidt, Sebastian Hiller, Jacques Pouysségur, Nathalie M. Mazure Molecular and Cellular Biology, 2015
Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease Sylvie Bannwarth, Samira Ait-El-Mkadem, Annabelle Chaussenot, Emmanuelle C. Genin, Sandra Lacas-Gervais, Konstantina Fragaki, Laetitia Berg-Alonso, Yusuke Kageyama, Valérie Serre, David Moore, Annie Verschueren, Cécile Rouzier, Isabelle Le Ber, Gaëlle Augé, Charlotte Cochaud, Françoise Lespinasse, Karine N’Guyen, Anne de Septenville, Alexis Brice, Patrick Yu-Wai-Man, Hiromi Sesaki, Jean Pouget, Véronique Paquis-Flucklinger Brain, 2014
Reply: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis? Sylvie Bannwarth, Samira Ait-El-Mkadem, Annabelle Chaussenot, Emmanuelle C. Genin, Sandra Lacas-Gervais, Konstantina Fragaki, Laetitia Berg-Alonso, Yusuke Kageyama, Valérie Serre, David Moore, Annie Verschueren, Cécile Rouzier, Isabelle Le Ber, Gaëlle Augé, Charlotte Cochaud, Françoise Lespinasse, Karine N’Guyen, Anne de Septenville, Alexis Brice, Patrick Yu-Wai-Man, Hiromi Sesaki, Jean Pouget, Véronique Paquis-Flucklinger Brain, 2014
Reply: Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis Sylvie Bannwarth, Samira Ait-El-Mkadem, Annabelle Chaussenot, Emmanuelle C. Genin, Sandra Lacas-Gervais, Konstantina Fragaki, Laetitia Berg-Alonso, Yusuke Kageyama, Valérie Serre, David Moore, Annie Verschueren, Cécile Rouzier, Isabelle Le Ber, Gaëlle Augé, Charlotte Cochaud, Françoise Lespinasse, Karine N’Guyen, Anne de Septenville, Alexis Brice, Patrick Yu-Wai-Man, Hiromi Sesaki, Jean Pouget, Véronique Paquis-Flucklinger Brain, 2014
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement Sylvie Bannwarth, Samira Ait-El-Mkadem, Annabelle Chaussenot, Emmanuelle C. Genin, Sandra Lacas-Gervais, Konstantina Fragaki, Laetitia Berg-Alonso, Yusuke Kageyama, Valérie Serre, David G. Moore, Annie Verschueren, Cécile Rouzier, Isabelle Le Ber, Gaëlle Augé, Charlotte Cochaud, Françoise Lespinasse, Karine N’Guyen, Anne de Septenville, Alexis Brice, Patrick Yu-Wai-Man, Hiromi Sesaki, Jean Pouget, Véronique Paquis-Flucklinger Brain, 2014
Adult duct-lining cells can reprogram into β-like cells able to counter repeated cycles of toxin-induced diabetes Keith Al-Hasani, Anja Pfeifer, Monica Courtney, Nouha Ben-Othman, Elisabet Gjernes, Andhira Vieira, Noémie Druelle, Fabio Avolio, Philippe Ravassard, Gunter Leuckx, Sandra Lacas-Gervais, Damien Ambrosetti, Emmanuel Benizri, Jacob Hecksher-Sorensen, Pierre Gounon, Jorge Ferrer, Gerard Gradwohl, Harry Heimberg, Ahmed Mansouri, Patrick Collombat Developmental Cell, 2013
Inhibition of ceramide synthesis ameliorates body wasting in a cancer cachexia model P Morigny, H Ji, L Cussonneau, S Zorzato, Y Kwon, F Riols, ... The Journal of Clinical Investigation 136 (10) , 2026 2026 Citations: 1
EFA6A regulates retinal function through the control of photoreceptor cell activity and structure S Abélanet, S Pagnotta, F Brau, M Péquignot, V Scheuermann, ... Iscience 29 (4) , 2026 2026
Loss of MTPAP disrupts mitochondrial RNA processing causing upregulation of type I interferon signalling A Pierga, Y de Souza Angelo, A Safieddine, MN Benassy, B Didry-Barca, ... bioRxiv, 2026.05. 04.722669 , 2026 2026
Human mammary 3D spheroid models uncover the role of filopodia in breaching the basement membrane to facilitate invasion A Corinus, S Abelanet, J Dubreuil, Z Zhu, S Pisano, C Boscagli, AS Gay, ... Matrix Biology , 2025 2025 Citations: 4
Hampered AMPK-ULK1 cascade in Alzheimer’s disease (AD) instigates mitochondria dysfunctions and AD-related alterations which are alleviated by metformin A Mary, S Barale, F Eysert, A Valverde, S Lacas-Gervais, C Bauer, ... Alzheimer's research & therapy 17 (1), 127 , 2025 2025 Citations: 13
Nifuroxazide rescues the deleterious effects due to CHCHD10 -associated MICOS defects in disease models B Ropert, S Bannwarth, EC Genin, L Vaillant-Beuchot, S Lacas-Gervais, ... Brain 148 (5), 1665-1679 , 2025 2025 Citations: 6
Large extracellular vesicles containing mitochondria (EVMs) derived from Alzheimer’s disease cells harbor pathologic functional and molecular profiles and spread mitochondrial … F Eysert, V Legros, AS Gay, D Debayle, S Lacas-Gervais, K Kaidi, ... bioRxiv, 2025.01. 08.631851 , 2025 2025
Characterization of atypical BAR domain-containing proteins coded by Toxoplasma gondii N Al-Qatabi, M Magdeleine, S Pagnotta, A Leforestier, J Degrouard, ... Journal of Biological Chemistry 300 (12) , 2024 2024
Mitochondrial alterations in fibroblasts from sporadic Alzheimer's disease (AD) patients correlate with AD-related clinical hallmarks F Eysert, PF Kinoshita, J Lagarde, S Lacas-Gervais, L Xicota, G Dorothée, ... Acta Neuropathologica Communications 12 (1), 90 , 2024 2024 Citations: 15
Bax Inhibitor-1 preserves pancreatic β-cell proteostasis by limiting proinsulin misfolding and programmed cell death M Blanc, L Habbouche, P Xiao, C Lebeaupin, M Janona, N Vaillant, ... Cell death & disease 15 (5), 334 , 2024 2024 Citations: 17
Golgi-associated retrograde protein (GARP) complex-dependent endosomes to trans Golgi network retrograde trafficking is controlled by Rab4b J Gilleron, A Chafik, S Lacas-Gervais, JF Tanti, M Cormont Cellular & Molecular Biology Letters 29 (1), 54 , 2024 2024 Citations: 9
A Potent Solution for Tumor Growth and Angiogenesis Suppression via an ELR + CXCL-CXCR1/2 Pathway Inhibitor O Grytsai, M Dufies, J Le Du, O Rastoin, LC Pires Gonçalves, L Mateo, ... ACS Medicinal Chemistry Letters 15 (6), 845-856 , 2024 2024 Citations: 3
Defects in AMPAR trafficking and microglia activation underlie socio-cognitive deficits associated to decreased expression of phosphodiesterase 2 a S Delhaye, M Jarjat, A Boulksibat, C Sanchez, A Tempio, A Turtoi, ... Neurobiology of Disease 191, 106393 , 2024 2024 Citations: 11
Defects in AMPAR trafficking and microglia activation underlie socio-cognitive deficits associated to decreased expression of Phosphodiesterase 2A M Jarjat, A Boulksibat, C Sanchez, A Tempio, A Turtoi, M Giorgi, ... 2024
Eif5a hypusination shapes metabolic platicity in prostate cancer M Kahi, A Mazzu, V Tiroille, A Vincent, M Irondelle, S Lacas-Gervais, ... European Urology Open Science 56, S89 , 2023 2023
MAFB drives differentiation by permitting WT1 binding to podocyte specific promoters FM Massa, F Jian-Motamedi, M Šerys, A Tison, A Loubat, ... bioRxiv, 2023.09. 06.555670 , 2023 2023 Citations: 2
Bax Inhibitor 1 preserves pancreatic β-cell proteostasis by limiting proinsulin misfolding and programmed cell death B Bailly-Maitre, M Blanc, P Xiao, C Lebeaupin, M Janona, L Habbouche, ... 2023
VAP-A intrinsically disordered regions enable versatile tethering at membrane contact sites M Subra, M Dezi, J Bigay, S Lacas-Gervais, A Di Cicco, ARD Araújo, ... Developmental cell 58 (2), 121-138. e9 , 2023 2023 Citations: 42
Multiomics study of CHCHD10 S59L -related disease reveals energy metabolism downregulation: OXPHOS and β-oxidation deficiencies associated with lipids … BM Hounoum, R Bellon, EC Genin, S Bannwarth, A Lefevre, L Fleuriol, ... bioRxiv, 2023.01. 19.524672 , 2023 2023
CHCHD10 and SLP2 control the stability of the PHB complex: a key factor for motor neuron viability EC Genin, S Bannwarth, B Ropert, F Lespinasse, A Mauri-Crouzet, ... Brain 145 (10), 3415-3430 , 2022 2022 Citations: 31
MOST CITED SCHOLAR PUBLICATIONS
A four-step cycle driven by PI (4) P hydrolysis directs sterol/PI (4) P exchange by the ER-Golgi tether OSBP B Mesmin, J Bigay, JM Von Filseck, S Lacas-Gervais, G Drin, B Antonny Cell 155 (4), 830-843 , 2013 2013 Citations: 890
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement S Bannwarth, S Ait-El-Mkadem, A Chaussenot, EC Genin, ... Brain 137 (8), 2329-2345 , 2014 2014 Citations: 657
Defined p16High senescent cell types are indispensable for mouse healthspan L Grosse, N Wagner, A Emelyanov, C Molina, S Lacas-Gervais, ... Cell metabolism 32 (1), 87-99. e6 , 2020 2020 Citations: 499
An enzymatic cascade of Rab5 effectors regulates phosphoinositide turnover in the endocytic pathway HW Shin, M Hayashi, S Christoforidis, S Lacas-Gervais, S Hoepfner, ... The Journal of cell biology 170 (4), 607-618 , 2005 2005 Citations: 497
Polyunsaturated phospholipids facilitate membrane deformation and fission by endocytic proteins M Pinot, S Vanni, S Pagnotta, S Lacas-Gervais, LA Payet, T Ferreira, ... Science 345 (6197), 693-697 , 2014 2014 Citations: 442
Long-term GABA administration induces alpha cell-mediated beta-like cell neogenesis N Ben-Othman, A Vieira, M Courtney, F Record, E Gjernes, F Avolio, ... Cell 168 (1), 73-85. e11 , 2017 2017 Citations: 403
Shigella phagocytic vacuolar membrane remnants participate in the cellular response to pathogen invasion and are regulated by autophagy N Dupont, S Lacas-Gervais, J Bertout, I Paz, B Freche, GT Van Nhieu, ... Cell host & microbe 6 (2), 137-149 , 2009 2009 Citations: 390
The Inactivation of Arx in Pancreatic α-Cells Triggers Their Neogenesis and Conversion into Functional β-Like Cells M Courtney, E Gjernes, N Druelle, C Ravaud, A Vieira, N Ben-Othman, ... PLoS genetics 9 (10), e1003934 , 2013 2013 Citations: 326
MiR-210 promotes a hypoxic phenotype and increases radioresistance in human lung cancer cell lines S Grosso, J Doyen, SK Parks, T Bertero, A Paye, B Cardinaud, P Gounon, ... Cell death & disease 4 (3), e544-e544 , 2013 2013 Citations: 276
Accumulation of amyloid precursor protein C-terminal fragments triggers mitochondrial structure, function, and mitophagy defects in Alzheimer’s disease models and human brains L Vaillant-Beuchot, A Mary, R Pardossi-Piquard, A Bourgeois, I Lauritzen, ... Acta neuropathologica 141 (1), 39-65 , 2021 2021 Citations: 265
Sterol transfer, PI4P consumption, and control of membrane lipid order by endogenous OSBP B Mesmin, J Bigay, J Polidori, D Jamecna, S Lacas‐Gervais, B Antonny The EMBO Journal 36 (21), 3156-3174 , 2017 2017 Citations: 254
Adult duct-lining cells can reprogram into β-like cells able to counter repeated cycles of toxin-induced diabetes K Al-Hasani, A Pfeifer, M Courtney, N Ben-Othman, E Gjernes, A Vieira, ... Developmental cell 26 (1), 86-100 , 2013 2013 Citations: 254
CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis EC Genin, M Plutino, S Bannwarth, E Villa, E Cisneros‐Barroso, M Roy, ... EMBO molecular medicine 8 (1), 58-72 , 2016 2016 Citations: 248
IL-34 and CSF-1 display an equivalent macrophage differentiation ability but a different polarization potential S Boulakirba, A Pfeifer, R Mhaidly, S Obba, M Goulard, T Schmitt, ... Scientific reports 8 (1), 256 , 2018 2018 Citations: 238
Glycogen synthesis is induced in hypoxia by the hypoxia-inducible factor and promotes cancer cell survival J Pelletier, G Bellot, P Gounon, S Lacas-Gervais, J Pouysségur, ... Frontiers in oncology 2, 18 , 2012 2012 Citations: 234
Localization and processing of the amyloid-β protein precursor in mitochondria-associated membranes D Del Prete, JM Suski, B Oulès, D Debayle, AS Gay, S Lacas-Gervais, ... Journal of Alzheimer’s Disease 55 (4), 1549-1570 , 2016 2016 Citations: 196
βIVΣ1 spectrin stabilizes the nodes of Ranvier and axon initial segments S Lacas-Gervais, J Guo, N Strenzke, E Scarfone, M Kolpe, M Jahkel, ... The Journal of Cell Biology 166 (7), 983-990 , 2004 2004 Citations: 174
FATE1 antagonizes calcium‐and drug‐induced apoptosis by uncoupling ER and mitochondria M Doghman‐Bouguerra, V Granatiero, S Sbiera, I Sbiera, ... The EMBO Reports 17 (9), 1264-1280 , 2016 2016 Citations: 159
Resistance to sunitinib in renal clear cell carcinoma results from sequestration in lysosomes and inhibition of the autophagic flux S Giuliano, Y Cormerais, M Dufies, R Grépin, P Colosetti, A Belaid, ... Autophagy 11 (10), 1891-1904 , 2015 2015 Citations: 159
βIV spectrins are essential for membrane stability and the molecular organization of nodes of Ranvier Y Yang, S Lacas-Gervais, DK Morest, M Solimena, MN Rasband Journal of Neuroscience 24 (33), 7230-7240 , 2004 2004 Citations: 156
