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About

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Platform for metabolic analyses provides the services for the metabolic measurements. The aim of the platform is to integrate metabolic studies in fundamental research projects to assess cellular and organism physiology. Our project stems from the need to share the equipment and expertise of the labs at Descartes of Paris, Imagine and INEM Institutes by creating a common facility and research network. An important goal is to acquire state-of-the-art equipment.

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Metabolic platform can help to assess metabolism on different levels:

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Staff

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Ivan Nemazanyy, PhD

Head - IR CNRS

ivan.nemazanyy@inserm.fr

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Mario Pende, PhD

Scientific adviser​ DR1 INSERM

mario.pende@inserm.fr

Staff

Equipment

XFe 96 Extracellular Flux Analyzer can simultaneously interrogate the two major energy producing pathways of the cell – mitochondrial respiration and glycolysis - in a microplate format, in real-time.

 

Q Exactive Plus benchtop Orbitrap mass spectrometer, equipped with an Ion Max source and a HESI II probe (Thermo Scientific). This system is capable of measuring mass-to-charge ratios with less than 5 ppm error and a resolution of up to 140,000 and can also collect MS/MS fragmentation data. Mass spectrometer is coupled to a Dionex UltiMate 3000 ultra-high performance liquid chromatography (UPLC).

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Q Exactive Plus Orbitrap mass spectrometer 
Coupled to a Dionex UltiMate 3000 ultra-high performance liquid chromatography (UPLC)

Fees - Experiments - 2024

XFe 96 Extracellular Flux Analyzer - Seahorse

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To use the Seahorse machine please contact the platform to arrange the meeting for discussion of the experimental strategy. Certain cell types will require the initial tests for an assay optimisation (cell type, cell number, concentrations of the inhibitors). Users can be trained to perform measurements in autonomous mode.

 

Services:

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Measurements of Mitochondrial respiration (basal, maximal (FCCP treatment) and spare respiratory capacity (Rotenone and Antimycin A treatment), Glycolytic function (glycolysis, glycolytic capacity (Oligomycin treatment), glycolytic reserve (2 Deoxy-D-glucose treatment) or Fatty acid oxidation

 

Charges:

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Necker site (INEM, Imagine)  - 165 Eur per plate (consumables and reagents are provided by the platform)

INSERM, UPC* or CNRS* affiliated lab - 187 Eur per plate (consumables and reagents are provided by the platform)

​Any other academic lab - 236 Eur per plate (consumables and reagents are provided by the platform)

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Requests from private research teams will be quoted.

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Metabolite analyses using Q Exactive Plus Orbitrap Mass Spectrometer

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Sample preparation, LC/MS, and data analysis methods vary widely depending on metabolite, sample type, and biological question. To initiate the project the user has to contact the platform to arrange the meeting to discuss the strategies of the experimental design and sample preparation.

 

Targeted analyses (~120 metabolites per run) per sample:​

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Necker site (INEM, Imagine) - 32 Eur

INSERM, UPC* or CNRS* - 42 Eur

Any other academic lab - 53 Eur

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Untargeted analyses (includes 4 runs per sample (positive and negative mode, pHILIC and C18 columns) per sample:

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Necker site (INEM, Imagine) - 84 Eur

INSERM, UPC* or CNRS* - 113 Eur

Any other academic lab - 143 Eur

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Requests from private research teams will be quoted.

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Publications

  1. Ramos-Brossier M, Romeo-Guitart D, Lanté F, Boitez V, Mailliet F, Saha S, Rivagorda M, Siopi E, Nemazanyy I, Leroy C, Moriceau S, Beck-Cormier S, Codogno P, Buisson A, Beck L, Friedlander G, Oury F. Slc20a1 and Slc20a2 regulate neuronal plasticity and cognition independently of their phosphate transport ability. Cell Death Dis. 2024 Jan 9;15(1):20. doi: 10.1038/s41419-023-06292-z. PMID: 38195526; PMCID: PMC10776841.

  2. Julla JB, Girard D, Diedisheim M, Saulnier PJ, Tran Vuong B, Blériot C, Carcarino E, De Keizer J, Orliaguet L, Nemazanyy I, Potier C, Khider K, Tonui DC, Ejlalmanesh T, Ballaire R, Mambu Mambueni H, Germain S, Gaborit B, Vidal- Trécan T, Riveline JP, Garchon HJ, Fenaille F, Lemoine S, Potier L, Castelli F, Carlier A, Masson D, Roussel R, Vandiedonck C, Hadjadj S, Alzaid F, Gautier JF, Venteclef N. Blood Monocyte Phenotype Is A Marker of Cardiovascular Risk in Type 2 Diabetes. Circ Res. 2023 Dec 28. doi: 10.1161/CIRCRESAHA.123.322757. PMID: 38152893.

  3. Patitucci C, Hernández-Camacho JD, Vimont E, Yde S, Cokelaer T, Chaze T, Giai Gianetto Q, Matondo M, Gazi A, Nemazanyy I, Stroud DA, Hock DH, Donnarumma E, Wai T. Mtfp1 ablation enhances mitochondrial respiration and protects against hepatic steatosis. Nat Commun. 2023 Dec 20;14(1):8474. doi: 10.1038/s41467-023-44143-9. PMID: 38123539; PMCID: PMC10733382.

  4. Tannoury M, Ayoub M, Dehgane L, Nemazanyy I, Dubois K, Izabelle C, Brousse A, Roos-Weil D, Maloum K, Merle-Béral H, Bauvois B, Saubamea B, Chapiro E, Nguyen- Khac F, Garnier D, Susin SA. ACOX1-mediated peroxisomal fatty acid oxidation contributes to metabolic reprogramming and survival in chronic lymphocytic leukemia. Leukemia. 2023 Dec 6. doi: 10.1038/s41375-023-02103-8. PMID: 38057495.

  5. Cosialls E, Pacreau E, Duruel C, Ceccacci S, Elhage R, Desterke C, Roger K, Guerrera C, Ducloux R, Souquere S, Pierron G, Nemazanyy I, Kelly M, Dalmas E, Chang Y, Goffin V, Mehrpour M, Hamaï A. mTOR inhibition suppresses salinomycin- induced ferroptosis in breast cancer stem cells by ironing out mitochondrial dysfunctions. Cell Death Dis. 2023 Nov 15;14(11):744. doi: 10.1038/s41419-023-06262-5. PMID: 37968262.

  6. Dos Santos L, Carbone F, Pacreau E, Diarra S, Luka M, Pigat N, Baures M, Navarro E, Anract J, Barry Delongchamps N, Cagnard N, Bost F, Nemazanyy I, Petitjean O, Hamaï A, Ménager M, Palea S, Guidotti JE, Goffin V. Cell Plasticity in a Mouse Model of Benign Prostate Hyperplasia Drives Amplification of Androgen-Independent Epithelial Cell Populations Sensitive to Antioxidant Therapy. Am J Pathol. 2024 Jan;194(1):30-51. doi: 10.1016/j.ajpath.2023.09.010. PMID: 37827216.

  7. Bayard C, Segna E, Taverne M, Fraissenon A, Hennocq Q, Periou B, Zerbib L, Ladraa S, Chapelle C, Hoguin C, Kaltenbach S, Villarese P, Asnafi V, Broissand C, Nemazanyy I, Autret G, Goudin N, Legendre C, Authier FJ, Viel T, Tavitian B, Gitiaux C, Fraitag S, Duong JP, Delcros C, Sergent B, Picard A, Dussiot M, Guibaud L, Khonsari R, Canaud G. Hemifacial myohyperplasia is due to somatic muscular PIK3CA gain-of-function mutations and responds to pharmacological inhibition. J Exp Med. 2023 Nov 6;220(11):e20230926. doi: 10.1084/jem.20230926. PMID: 37712948.

  8. Bastin J, Sroussi M, Nemazanyy I, Laurent-Puig P, Mouillet-Richard S, Djouadi F. Downregulation of mitochondrial complex I induces ROS production in colorectal cancer subtypes that differently controls migration. J Transl Med. 2023 Aug 3;21(1):522. doi: 10.1186/s12967-023-04341-x. PMID: 37533102.

  9. Ducroq S, Duplus E, Penalva-Mousset L, Trivelloni F, L'honoré A, Chabat- Courrède C, Nemazanyy I, Grange-Messent V, Petropoulos I, Mhaouty-Kodja S. Behavior, Neural Structure, and Metabolism in Adult Male Mice Exposed to Environmentally Relevant Doses of Di(2-ethylhexyl) Phthalate Alone or in a Phthalate Mixture. Environ Health Perspect. 2023 Jul;131(7):77008. doi: 10.1289/EHP11514. PMID: 37458746.

  10. Alkhoury C, Henneman NF, Petrenko V, Shibayama Y, Segaloni A, Gadault A, Nemazanyy I, Le Guillou E, Wolide AD, Antoniadou K, Tong X, Tamaru T, Ozawa T, Girard M, Hnia K, Lutter D, Dibner C, Panasyuk G. Class 3 PI3K coactivates the circadian clock to promote rhythmic de novo purine synthesis. Nat Cell Biol. 2023 Jul;25(7):975-988. doi: 10.1038/s41556-023-01171-3. PMID: 37414850.

  11. Källberg J, Harrison A, March V, Bērziņa S, Nemazanyy I, Kepp O, Kroemer G, Mouillet-Richard S, Laurent-Puig P, Taly V, Xiao W. Intratumor heterogeneity and cell secretome promote chemotherapy resistance and progression of colorectal cancer. Cell Death Dis. 2023 May 5;14(5):306. doi: 10.1038/s41419-023-05806-z. PMID: 37142595.

  12. Ladraa S, Zerbib L, Bayard C, Fraissenon A, Venot Q, Morin G, Garneau AP, Isnard P, Chapelle C, Hoguin C, Fraitag S, Duong JP, Guibaud L, Besançon A, Kaltenbach S, Villarese P, Asnafi V, Broissand C, Goudin N, Dussiot M, Nemazanyy I, Viel T, Autret G, Cruciani-Guglielmacci C, Denom J, Bruneau J, Tavitian B, Legendre C, Dairou J, Lacorte JM, Levy P, Pende M, Polak M, Canaud G. PIK3CA gain-of-function mutation in adipose tissue induces metabolic reprogramming with Warburg-like effect and severe endocrine disruption. Sci Adv. 2022 Dec 9;8(49):eade7823. doi: 10.1126/sciadv.ade7823. Epub 2022 Dec 9. PMID: 36490341; PMCID: PMC9733923.

  13. Chappert P, Huetz F, Espinasse MA, Chatonnet F, Pannetier L, Da Silva L, Goetz C, Mégret J, Sokal A, Crickx E, Nemazanyy I, Jung V, Guerrera C, Storck S, Mahévas M, Cosma A, Revy P, Fest T, Reynaud CA, Weill JC. Human anti-smallpox long-lived memory B cells are defined by dynamic interactions in the splenic niche and long-lasting germinal center imprinting. Immunity. 2022 Oct 11;55(10):1872-1890.e9. doi: 10.1016/j.immuni.2022.08.019. Epub 2022 Sep 20. PMID: 36130603; PMCID: PMC7613742.

  14. Rinaldi A, Lazareth H, Poindessous V, Nemazanyy I, Sampaio JL, Malpetti D, Bignon Y, Naesens M, Rabant M, Anglicheau D, Cippà PE, Pallet N. Impaired fatty acid metabolism perpetuates lipotoxicity along the transition to chronic kidney injury. JCI Insight. 2022 Sep 22;7(18):e161783. doi: 10.1172/jci.insight.161783. PMID: 35998043; PMCID: PMC9675570.

  15. Chen D, Nemazanyy I, Peulen O, Shostak K, Xu X, Tang SC, Wathieu C, Turchetto S, Tielens S, Nguyen L, Close P, Desmet C, Klein S, Florin A, Büttner R, Petrellis G, Dewals B, Chariot A. Elp3-mediated codon-dependent translation promotes mTORC2 activation and regulates macrophage polarization. EMBO J. 2022 Sep 15;41(18):e109353. doi: 10.15252/embj.2021109353. PMID: 35920020; PMCID: PMC9475509.

  16. Grima-Reyes M, Vandenberghe A, Nemazanyy I, Meola P, Paul R, Reverso-Meinietti J, Martinez-Turtos A, Nottet N, Chan WK, Lorenzi PL, Marchetti S, Ricci JE, Chiche J. Tumoral microenvironment prevents de novo asparagine biosynthesis in B cell lymphoma, regardless of ASNS expression. Sci Adv. 2022 Jul 8;8(27):eabn6491. doi: 10.1126/sciadv.abn6491. PMID: 35857457; PMCID: PMC9258813.

  17. Donne R, Saroul-Ainama M, Cordier P, Hammoutene A, Kabore C, Stadler M, Nemazanyy I, Galy-Fauroux I, Herrag M, Riedl T, Chansel-Da Cruz M, Caruso S, Bonnafous S, Öllinger R, Rad R, Unger K, Tran A, Couty JP, Gual P, Paradis V, Celton-Morizur S, Heikenwalder M, Revy P, Desdouets C. Replication stress triggered by nucleotide pool imbalance drives DNA damage and cGAS-STING pathway activation in NAFLD. Dev Cell. 2022 Jul 25;57(14):1728-1741.e6. doi: 10.1016/j.devcel.2022.06.003. PMID: 35768000.

  18. Jouandin P, Marelja Z, Shih YH, Parkhitko AA, Dambowsky M, Asara JM, Nemazanyy I, Dibble CC, Simons M, Perrimon N. Lysosomal cystine mobilization shapes the response of TORC1 and tissue growth to fasting. Science. 2022 Feb 18;375(6582):eabc4203. doi: 10.1126/science.abc4203. Epub 2022 Feb 18. PMID: 35175796; PMCID: PMC8926155.

  19. Teyssou E, Chartier L, Roussel D, Perera ND, Nemazanyy I, Langui D, Albert M, Larmonier T, Saker S, Salachas F, Pradat PF, Meininger V, Ravassard P, Côté F, Lobsiger CS, Boillée S, Turner BJ, Seilhean D, Millecamps S. The Amyotrophic Lateral Sclerosis M114T PFN1 Mutation Deregulates Alternative Autophagy Pathways and Mitochondrial Homeostasis. Int J Mol Sci. 2022 May 19;23(10):5694. doi: 10.3390/ijms23105694. PMID: 35628504; PMCID: PMC9143529.

  20. Ramond E, Lepissier A, Ding X, Bouvier C, Tan X, Euphrasie D, Monbernard P, Dupuis M, Saubaméa B, Nemazanyy I, Nassif X, Ferroni A, Sermet-Gaudelus I, Charbit A, Coureuil M, Jamet A. Lung-adapted Staphylococcus aureus isolates with dysfunctional agr system trigger a proinflammatory response. J Infect Dis. 2022 May 7:jiac191. doi: 10.1093/infdis/jiac191. Epub ahead of print. PMID: 35524969.

  21. Gautheron J, Lima L, Akinci B, Zammouri J, Auclair M, Ucar SK, Ozen S, Altay C, Bax BE, Nemazanyy I, Lenoir V, Prip-Buus C, Acquaviva-Bourdain C, Lascols O, Fève B, Vigouroux C, Noel E, Jéru I. Loss of thymidine phosphorylase activity disrupts adipocyte differentiation and induces insulin-resistant lipoatrophic diabetes. BMC Med. 2022 Mar 28;20(1):95. doi: 10.1186/s12916-022-02296-2. PMID: 35341481; PMCID: PMC8958798.

  22. Shibayama Y, Alkhoury C, Nemazanyy I, F Henneman N, Cagnard N, Girard M, Atsumi T, Panasyuk G. Class 3 phosphoinositide 3-kinase promotes hepatic glucocorticoid receptor stability and transcriptional activity. Acta Physiol (Oxf). 2022 May;235(1):e13793. doi: 10.1111/apha.13793. Epub 2022 Feb 7. PMID: 35094500.

  23. Bignon Y, Rinaldi A, Nadour Z, Poindessous V, Nemazanyy I, Lenoir O, Fohlen B, Weill-Raynal P, Hertig A, Karras A, Galichon P, Naesens M, Anglicheau D, Cippà PE, Pallet N. Cell stress response impairs de novo NAD+ biosynthesis in the kidney. JCI Insight. 2022 Jan 11;7(1):e153019. doi: 10.1172/jci.insight.153019. PMID: 34793337; PMCID: PMC8765040.

  24. Lamarthée B, Marchal A, Charbonnier S, Blein T, Leon J, Martin E, Rabaux L, Vogt K, Titeux M, Delville M, Vinçon H, Six E, Pallet N, Michonneau D, Anglicheau D, Legendre C, Taupin JL, Nemazanyy I, Sawitzki B, Latour S, Cavazzana M, André I, Zuber J. Transient mTOR inhibition rescues 4-1BB CAR-Tregs from tonic signal-induced dysfunction. Nat Commun. 2021 Nov 8;12(1):6446. doi: 10.1038/s41467-021-26844-1. PMID: 34750385; PMCID: PMC8575891.

  25. The E3 ligase COP1 promotes ERα signaling and suppresses EMT in breast cancer. Tang SC, Lion Q, Peulen O, Chariot P, Lavergne A, Mayer A, Fuster PA, Close P, Klein S, Florin A, Büttner R, Nemazanyy I, Shostak K, Chariot A. Oncogene. 2021 Oct 29. doi: 10.1038/s41388-021-02038-3.

  26. Compromised mitochondrial quality control triggers lipin1-related rhabdomyolysis. Hamel Y, Mauvais FX, Madrange M, Renard P, Lebreton C, Nemazanyy I, Pellé O, Goudin N, Tang X, Rodero MP, Tuchmann-Durand C, Nusbaum P, Brindley DN, van Endert P, de Lonlay P. Cell Rep Med. 2021 Aug 17;2(8):100370. doi: 10.1016/j.xcrm.2021.100370

  27. The pentose phosphate pathway constitutes a major metabolic hub in pathogenic Francisella. Rytter H, Jamet A, Ziveri J, Ramond E, Coureuil M, Lagouge-Roussey P, Euphrasie D, Tros F, Goudin N, Chhuon C, Nemazanyy I, de Moraes FE, Labate C, Guerrera IC, Charbit A. PLoS Pathog. 2021 Aug 2;17(8):e1009326. doi: 10.1371/journal.ppat.1009326. eCollection 2021 Aug.PMID: 3433947

  28. de la Calle Arregui C, Plata-Gómez AB, Deleyto-Seldas N, García F, Ortega- Molina A, Abril-Garrido J, Rodriguez E, Nemazanyy I, Tribouillard L, de Martino A, Caleiras E, Campos-Olivas R, Mulero F, Laplante M, Muñoz J, Pende M, Sabio G, Sabatini DM, Efeyan A. Limited survival and impaired hepatic fasting metabolism in mice with constitutive Rag GTPase signaling. Nat Commun. 2021 Jun 16;12(1):3660. doi: 10.1038/s41467-021-23857-8. PMID: 34135321; PMCID: PMC8209044.

  29. Buks R, Brusson M, Cochet S, Galochkina T, Cassinat B, Nemazanyy I, Peyrard T, Kiladjian JJ, de Brevern AG, Azouzi S, El Nemer W. ABCG2 Is Overexpressed on Red Blood Cells in Ph-Negative Myeloproliferative Neoplasms and Potentiates Ruxolitinib-Induced Apoptosis. Int J Mol Sci. 2021 Mar 29;22(7):3530. doi: 10.3390/ijms22073530. PMID: 33805426; PMCID: PMC8036917.

  30. Miceli C, Roccio F, Penalva-Mousset L, Burtin M, Leroy C, Nemazanyy I, Kuperwasser N, Pontoglio M, Friedlander G, Morel E, Terzi F, Codogno P, Dupont N. The primary cilium and lipophagy translate mechanical forces to direct metabolic adaptation of kidney epithelial cells. Nat Cell Biol. 2020 Sep;22(9):1091-1102. doi: 10.1038/s41556-020-0566-0. PMID: 32868900.

  31. Vallion R, Divoux J, Glauzy S, Ronin E, Lombardi Y, Lubrano di Ricco M, Grégoire S, Nemazanyy I, Durand A, Fradin D, Lucas B, Salomon BL. Regulatory T Cell Stability and Migration Are Dependent on mTOR. J Immunol. 2020 Oct 1;205(7):1799-1809. doi: 10.4049/jimmunol.1901480. PMID: 32839235.

  32. Murakami S, Nemazanyy I, White SM, Chen H, Nguyen CDK, Graham GT, Saur D, Pende M, Yi C. A Yap-Myc-Sox2-p53 Regulatory Network Dictates Metabolic Homeostasis and Differentiation in Kras-Driven Pancreatic Ductal Adenocarcinomas. Dev Cell. 2019 Oct 7;51(1):113-128.e9. doi: 10.1016/j.devcel.2019.07.022. PMID: 31447265; PMCID: PMC6783361.

  33. Tan X, Ramond E, Jamet A, Barnier JP, Decaux-Tramoni B, Dupuis M, Euphrasie D, Tros F, Nemazanyy I, Ziveri J, Nassif X, Charbit A, Coureuil M. Transketolase of Staphylococcus aureus in the Control of Master Regulators of Stress Response During Infection. J Infect Dis. 2019 Nov 6;220(12):1967-1976. doi: 10.1093/infdis/jiz404. PMID: 31420648.

  34. White SM, Avantaggiati ML, Nemazanyy I, Di Poto C, Yang Y, Pende M, Gibney GT, Ressom HW, Field J, Atkins MB, Yi C. YAP/TAZ Inhibition Induces Metabolic and Signaling Rewiring Resulting in Targetable Vulnerabilities in NF2-Deficient Tumor Cells. Dev Cell. 2019 May 6;49(3):425-443.e9. doi: 10.1016/j.devcel.2019.04.014. PMID: 31063758; PMCID: PMC6524954.

  35. Iershov A, Nemazanyy I, Alkhoury C, Girard M, Barth E, Cagnard N, Montagner A, Chretien D, Rugarli EI, Guillou H, Pende M, Panasyuk G. The class 3 PI3K coordinates autophagy and mitochondrial lipid catabolism by controlling nuclear receptor PPARα. Nat Commun. 2019 Apr 5;10(1):1566. doi: 10.1038/s41467-019-09598-9. PMID: 30952952; PMCID: PMC6451001.

  36. Tan X, Coureuil M, Ramond E, Euphrasie D, Dupuis M, Tros F, Meyer J, Nemazanyy I, Chhuon C, Guerrera IC, Ferroni A, Sermet-Gaudelus I, Nassif X, Charbit A, Jamet A. Chronic Staphylococcus aureus Lung Infection Correlates With Proteogenomic and Metabolic Adaptations Leading to an Increased Intracellular Persistence. Clin Infect Dis. 2019 Nov 13;69(11):1937-1945. doi: 10.1093/cid/ciz106. PMID: 30753350.

  37. 10: Rashid T, Nemazanyy I, Paolini C, Tatsuta T, Crespin P, de Villeneuve D, Brodesser S, Benit P, Rustin P, Baraibar MA, Agbulut O, Olivier A, Protasi F, Langer T, Chrast R, de Lonlay P, de Foucauld H, Blaauw B, Pende M. Lipin1 deficiency causes sarcoplasmic reticulum stress and chaperone-responsive myopathy. EMBO J. 2019 Jan 3;38(1):e99576. doi: 10.15252/embj.201899576. Epub 2018 Nov 12. PMID: 30420558; PMCID: PMC6315296.

  38. Duong HQ, Nemazanyy I, Rambow F, Tang SC, Delaunay S, Tharun L, Florin A, Büttner R, Vandaele D, Close P, Marine JC, Shostak K, Chariot A. The Endosomal Protein CEMIP Links WNT Signaling to MEK1-ERK1/2 Activation in Selumetinib- Resistant Intestinal Organoids. Cancer Res. 2018 Aug 15;78(16):4533-4548. doi: 10.1158/0008-5472.CAN-17-3149. Epub 2018 Jun 18. PMID: 29915160.

  39. Bertaux A, Cabon L, Brunelle-Navas MN, Bouchet S, Nemazanyy I, Susin SA. Mitochondrial OXPHOS influences immune cell fate: lessons from hematopoietic AIF-deficient and NDUFS4-deficient mouse models. Cell Death Dis. 2018 May 22;9(6):581. doi: 10.1038/s41419-018-0583-0. PMID: 29789531; PMCID: PMC5964237.

  40. Cabon L, Bertaux A, Brunelle-Navas MN, Nemazanyy I, Scourzic L, Delavallée L, Vela L, Baritaud M, Bouchet S, Lopez C, Quang Van V, Garbin K, Chateau D, Gilard F, Sarfati M, Mercher T, Bernard OA, Susin SA. AIF loss deregulates hematopoiesis and reveals different adaptive metabolic responses in bone marrow cells and thymocytes. Cell Death Differ. 2018 May;25(5):983-1001. doi: 10.1038/s41418-017-0035-x PMID: 29323266; PMCID: PMC5943248.

  41. Habarou F, Hamel Y, Haack TB, Feichtinger RG, Lebigot E, Marquardt I, Busiah K, Laroche C, Madrange M, Grisel C, Pontoizeau C, Eisermann M, Boutron A, Chrétien D, Chadefaux-Vekemans B, Barouki R, Bole-Feysot C, Nitschke P, Goudin N, Boddaert N, Nemazanyy I, Delahodde A, Kölker S, Rodenburg RJ, Korenke GC, Meitinger T, Strom TM, Prokisch H, Rotig A, Ottolenghi C, Mayr JA, de Lonlay P. Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy. Am J Hum Genet. 2017 Aug 3;101(2):283-290. doi: 10.1016/j.ajhg.2017.07.001. Epub 2017 Jul 27. PMID: 28757203; PMCID: PMC5544388.

  42. Schatton D, Pla-Martin D, Marx MC, Hansen H, Mourier A, Nemazanyy I, Pessia A, Zentis P, Corona T, Kondylis V, Barth E, Schauss AC, Velagapudi V, Rugarli EI. CLUH regulates mitochondrial metabolism by controlling translation and decay of target mRNAs. J Cell Biol. 2017 Mar 6;216(3):675-693. doi: 10.1083/jcb.201607019. Epub 2017 Feb 10. PMID: 28188211; PMCID: PMC5350512.

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