2020
Cassereau J, Chevrollier A, Codron P, Goizet C, Gueguen N, Verny C, Reynier P, Bonneau D, Lenaers G, Procaccio V. Oxidative stress contributes differentially to the pathophysiology of Charcot-Marie-Tooth disease type 2K. Exp Neurol. 2020 Jan;323:113069. doi: 10.1016/j.expneurol.2019.113069. Epub 2019 Oct 23. PMID: 31655048
Bakis H, Trimouille A, Vermorel A, Redonnet I, Goizet C, Boulestreau R, Lacombe D, Combe C, Martin-Négrier ML, Rigothier C. Adult onset tubulo-interstitial nephropathy in MT-ND5-related phenotypes.
Clin Genet. 2020 Apr;97(4):628-633. doi: 10.1111/cge.13670. Epub 2020 Jan 9. PMID: 31713837
Bellance N, Furt F, Melser S, Lalou C, Thoraval D, Maneta-Peyret L, Lacombe D, Moreau P, Rossignol R. Doxorubicin Inhibits Phosphatidylserine Decarboxylase and Modifies Mitochondrial Membrane Composition in HeLa Cells. Int J Mol Sci. 2020 Feb 15;21(4):1317. doi: 10.3390/ijms21041317.
Brain White Matter Lesions and Presumed Crohn's Disease: Did You Consider MNGIE? Cousyn L, Boehm V, Shor N, Treton X, Benamouzig R, Gaignard P, Nadjar Y. Can J Neurol Sci. 2020 Mar 3:1-4.
Expanding the phenotype of mitochondrial disease: Novel pathogenic variant in ISCA1 leading to instability of the iron-sulfur cluster in the protein. Lebigot E, Hully M, Amazit L, Gaignard P, Michel T, Rio M, Lombès M, Thérond P, Boutron A, Golinelli-Cohen MP. Mitochondrion. 2020 Feb 21;52:75-82.
Sarlak S, Lalou C, Amoedo ND, Rossignol R. Metabolic reprogramming by tobacco-specific nitrosamines (TSNAs) in cancer. Semin Cell Dev Biol. 2020 Feb;98:154-166. doi: 10.1016/j.semcdb.2019.09.001. Epub 2019 Nov 4.
Efficacy and Safety of D,L-3-hydroxybutyrate (D,L-3-HB) Treatment in Multiple acyl-CoA Dehydrogenase Deficiency
Willemijn J van Rijt, Emmalie A Jager, Derk P Allersma, A Çiğdem Aktuğlu Zeybek, Kaustuv Bhattacharya, François-Guillaume Debray, Carolyn J Ellaway, Matthias Gautschi, Michael T Geraghty, David Gil-Ortega, Austin A Larson, Francesca Moore, Eva Morava, Andrew A Morris, Kimihiko Oishi, Manuel Schiff, Sabine Scholl-Bürgi, Michel C Tchan, Jerry Vockley, Peter Witters, Saskia B Wortmann, Francjan van Spronsen, Johan L K Van Hove, Terry G J Derks
PMID: 31904027 / PMCID: PMC7200590 / DOI: 10.1038/s41436-019-0739-z - Janvier 2020
Oxidative stress contributes differentially to the pathophysiology of Charcot-Marie-Tooth disease type 2K.
Cassereau J, Chevrollier A, Codron P, Goizet C, Gueguen N, Verny C, Reynier P, Bonneau D, Lenaers G, Procaccio V.Cassereau J, et al. Among authors: procaccio v. Exp Neurol. 2020 Jan;323:113069. doi: 10.1016/j.expneurol.2019.113069. Epub 2019 Oct 23.Exp Neurol. 2020. PMID: 31655048
First characterization of LHON pedigrees in North Africa.
Bouzidi A, Aboussair N, Charif M, Amalou G, Goudenège D, Desquiret-Dumas V, Bris C, Sifeddine N, Nahili H, Elqabli M, Dafir K, Kandil M, Amati-Bonneau P, Procaccio V, Barakat A, Lenaers G.Bouzidi A, et al. Among authors: procaccio v. Eye (Lond). 2020 Jan 2. doi: 10.1038/s41433-019-0755-x. Online ahead of print.Eye (Lond). 2020. PMID: 31896800
Data Mining Metabolomics Exploration of Glaucoma.
Kouassi Nzoughet J, Guehlouz K, Leruez S, Gohier P, Bocca C, Muller J, Blanchet O, Bonneau D, Simard G, Milea D, Procaccio V, Lenaers G, Chao de la Barca JM, Reynier P.Kouassi Nzoughet J, et al. Among authors: procaccio v. Metabolites. 2020 Jan 28;10(2):49. doi: 10.3390/metabo10020049.Metabolites. 2020. PMID: 32012845
Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations.
Barcia G, Rio M, Assouline Z, Zangarelli C, Gueguen N, Dumas VD, Marcorelles P, Schiff M, Slama A, Barth M, Hully M, de Lonlay P, Munnich A, Desguerre I, Bonnefont JP, Steffann J, Procaccio V, Boddaert N, Rötig A, Metodiev MD, Ruzzenente B.Barcia G, et al. Among authors: procaccio v. Hum Mutat. 2020 Feb;41(2):397-402. doi: 10.1002/humu.23937. Epub 2019 Nov 11.Hum Mutat. 2020. PMID: 31680380
Plasma Metabolomic Profiling of Exudative Age-Related Macular Degeneration Showing Carnosine and Mitochondrial Deficiencies.
Chao de la Barca JM, Rondet-Courbis B, Ferré M, Muller J, Buisset A, Leruez S, Plubeau G, Macé T, Moureauzeau L, Chupin S, Tessier L, Blanchet O, Lenaers G, Procaccio V, Mirebeau-Prunier D, Simard G, Gohier P, Miléa D, Reynier P.Chao de la Barca JM, et al. Among authors: procaccio v. J Clin Med. 2020 Feb 27;9(3):631. doi: 10.3390/jcm9030631.J Clin Med. 2020. PMID: 32120889
Lactic Acidosis Together with GM-CSF and M-CSF Induces Human Macrophages toward an Inflammatory Protumor Phenotype.
Paolini L, Adam C, Beauvillain C, Preisser L, Blanchard S, Pignon P, Seegers V, Chevalier LM, Campone M, Wernert R, Verrielle V, Raro P, Ifrah N, Lavoué V, Descamps P, Morel A, Catros V, Tcherkez G, Lenaers G, Bocca C, Kouassi Nzoughet J, Procaccio V, Delneste Y, Jeannin P.Paolini L, et al. Among authors: procaccio v. Cancer Immunol Res. 2020 Mar;8(3):383-395. doi: 10.1158/2326-6066.CIR-18-0749. Epub 2020 Jan 10.Cancer Immunol Res. 2020. PMID: 31924656
Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases.
Felhi R, Charif M, Sfaihi L, Mkaouar-Rebai E, Desquiret-Dumas V, Kallel R, Bris C, Goudenège D, Guichet A, Bonneau D, Procaccio V, Reynier P, Amati-Bonneau P, Hachicha M, Fakhfakh F, Lenaers G.Felhi R, et al. Among authors: procaccio v. Mol Biol Rep. 2020 May;47(5):3779-3787. doi: 10.1007/s11033-020-05425-3. Epub 2020 Apr 21.Mol Biol Rep. 2020. PMID: 32319008
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy.
Charif M, Chevrollier A, Gueguen N, Bris C, Goudenège D, Desquiret-Dumas V, Leruez S, Colin E, Meunier A, Vignal C, Smirnov V, Defoort-Dhellemmes S, Drumare Bouvet I, Goizet C, Votruba M, Jurkute N, Yu-Wai-Man P, Tagliavini F, Caporali L, La Morgia C, Carelli V, Procaccio V, Zanlonghi X, Meunier I, Reynier P, Bonneau D, Amati-Bonneau P, Lenaers G.Charif M, et al. Among authors: procaccio v. Neurol Genet. 2020 May 20;6(3):e428. doi: 10.1212/NXG.0000000000000428. eCollection 2020 Jun.Neurol Genet. 2020. PMID: 32548275
Metabolomics hallmarks OPA1 variants correlating with their in vitro phenotype and predicting clinical severity.
Chao de la Barca JM, Fogazza M, Rugolo M, Chupin S, Del Dotto V, Ghelli AM, Carelli V, Simard G, Procaccio V, Bonneau D, Lenaers G, Reynier P, Zanna C.Chao de la Barca JM, et al. Among authors: procaccio v. Hum Mol Genet. 2020 May 28;29(8):1319-1329. doi: 10.1093/hmg/ddaa047.Hum Mol Genet. 2020. PMID: 32202296
Clinical phenotype of mitochondrial diabetes due to rare mitochondrial DNA mutations.
Decoux-Poullot AG, Bannwarth S, Procaccio V, Lebre AS, Jardel C, Vialettes B, Paquis-Flucklinger V, Chevalier N.Decoux-Poullot AG, et al. Among authors: procaccio v. Ann Endocrinol (Paris). 2020 Jun;81(2-3):68-77. doi: 10.1016/j.ando.2020.04.007. Epub 2020 Apr 28.Ann Endocrinol (Paris). 2020. PMID: 32409007
2019
Vlaski-Lafarge M, Loncaric D, Perez L, Labat V, Debeissat C, Brunet de la Grange P, Rossignol R, Ivanovic Z, Bœuf H. Bioenergetic Changes Underline Plasticity of Murine Embryonic Stem Cells. Stem Cells. 2019 Apr;37(4):463-475. doi: 10.1002/stem.2965. Epub 2019 Jan 24. PMID: 30599083
The Natural History of Infantile Mitochondrial DNA Depletion Syndrome Due to RRM2B Deficiency
Nandaki Keshavan, Jose Abdenur, Glenn Anderson, Zahra Assouline, Giulia Barcia, Lamia Bouhikbar, Anupam Chakrapani, Maureen Cleary, Marta C Cohen, François Feillet, Carl Fratter, Natalie Hauser, Tom Jacques, Amanda Lam, Helen McCullagh, Rahul Phadke, Agnès Rötig, Mark Sharrard, Mariella Simon, Conrad Smith, Ewen W Sommerville, Robert W Taylor, Wyatt W Yue, Shamima Rahman
PMID: 31462754 / DOI: 10.1038/s41436-019-0613-z - Aout 2019
Arabidopsis Thaliana Alternative Dehydrogenases: A Potential Therapy for Mitochondrial Complex I Deficiency? Perspectives and Pitfalls
Alessia Catania, Arcangela Iuso, Juliette Bouchereau, Laura S Kremer, Marina Paviolo, Caterina Terrile, Paule Bénit, Allan G Rasmusson, Thomas Schwarzmayr, Valeria Tiranti, Pierre Rustin, Malgorzata Rak, Holger Prokisch, Manuel Schiff
PMID: 31665043 / PMCID: PMC6821020 / DOI: 10.1186/s13023-019-1185-3 - Octobre 2019
Clinical, Neuroimaging and Biochemical Findings in Patients and Patient Fibroblasts Expressing Ten Novel GFM1 Mutations
Giulia Barcia, Marlène Rio, Zahra Assouline, Coralie Zangarelli, Naig Gueguen, Valerie D Dumas, Pascale Marcorelles, Manuel Schiff, Abdelhamid Slama, Magalie Barth, Marie Hully, Pascale de Lonlay, Arnold Munnich, Isabelle Desguerre, Jean-Paul Bonnefont, Julie Steffann, Vincent Procaccio, Nathalie Boddaert, Agnès Rötig, Metodi D Metodiev, Benedetta Ruzzenente
PMID: 31680380 / DOI: 10.1002/humu.23937 - Novembre 2019
Expanding the Clinical Spectrum of MTTF Mutations
Giulia Barcia, Zahra Assouline, Alessandra Pennisi, Julie Steffann, Nathalie Boddaert, Cyril Gitiaux, Agnès Rötig, Jean-Paul Bonnefont, Arnold Munnich
PMID: 31463198 / PMCID: PMC6706677 / DOI: 10.1016/j.ymgmr.2019.100501 - Decembre 2019
Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13. Russell BE, Whaley KG, Bove KE, Labilloy A, Lombardo RC, Hopkin RJ, Leslie ND, Prada C, Assouline Z, Barcia G, Bouchereau J, Chomton M, Debray D, Dorboz I, Durand P, Gaignard P, Habes D, Jardel C, Labarthe F, Lévy J, Lombès A, Mehler-Jacob C, Melki J, Menvielle L, Munnich A, Mussini C, Pichard S, Rio M, Rötig A, Sissaoui S, Slama A, Miethke AG, Schiff M. Hepatology. 2019 Sep;70(3):1066-1070.
MyoNeuroGastroIntestinal Encephalopathy: Natural History and Means for Early Diagnosis. Corazza G, Pagan C, Hardy G, Besson G, Lombès A; MNGIE project. Gastroenterology. 2019 Apr;156(5):1525-1527.e4.
Life-threatening lactic acidosis occurring in adults with mitochondrial disorders. Brisset M, Béhin A, Pottier C, Jardel C, Sharshar T, Mochel F, Mallard F, Slama A, Lombès A, Eymard B, Laforêt P. Rev Neurol (Paris). 2019 Oct;175(9):564-567.
Mitochondrial myopathy associated with anti-programmed cell death 1 therapy. Ibrahim T, Adam C, Routier E, Slama A, Robert C. Eur J Cancer. 2019 Mar;110:71-73.
Two human patient mitochondrial pyruvate carrier mutations reveal distinct molecular mechanisms of dysfunction. Oonthonpan L, Rauckhorst AJ, Gray LR, Boutron AC, Taylor EB. JCI Insight. 2019 May 30;5(13):e126132.
Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion.
Felhi R, Sfaihi L, Charif M, Desquiret-Dumas V, Bris C, Goudenège D, Ammar-Keskes L, Hachicha M, Bonneau D, Procaccio V, Reynier P, Amati-Bonneau P, Lenaers G, Fakhfakh F.Felhi R, et al. Among authors: procaccio v. Clin Chim Acta. 2019 Jan;488:104-110. doi: 10.1016/j.cca.2018.11.003. Epub 2018 Nov 3.Clin Chim Acta. 2019. PMID: 30395865
The mitochondrial DNA content of cumulus cells may help predict embryo implantation.
Taugourdeau A, Desquiret-Dumas V, Hamel JF, Chupin S, Boucret L, Ferré-L'Hotellier V, Bouet PE, Descamps P, Procaccio V, Reynier P, May-Panloup P.Taugourdeau A, et al. Among authors: procaccio v. J Assist Reprod Genet. 2019 Feb;36(2):223-228. doi: 10.1007/s10815-018-1348-5. Epub 2018 Oct 25.J Assist Reprod Genet. 2019. PMID: 30362054
Retinal Neuronal Loss in Visually Asymptomatic Patients With Myoclonic Epilepsy With Ragged-Red Fibers.
Najjar RP, Reynier P, Caignard A, Procaccio V, Amati-Bonneau P, Mack H, Milea D.Najjar RP, et al. Among authors: procaccio v. J Neuroophthalmol. 2019 Mar;39(1):18-22. doi: 10.1097/WNO.0000000000000690.J Neuroophthalmol. 2019. PMID: 29979334
High mitochondrial DNA copy number is associated with longer survival in young patients with glioblastoma.
Dardaud LM, Bris C, Desquiret-Dumas V, Boisselier B, Tabouret E, Mokhtari K, Figarella-Branger D, Rousseau A, Procaccio V.Dardaud LM, et al. Among authors: procaccio v. Neuro Oncol. 2019 Apr 26;21(8):1084-5. doi: 10.1093/neuonc/noz072. Online ahead of print.Neuro Oncol. 2019. PMID: 31095694
Nicotinamide Deficiency in Primary Open-Angle Glaucoma.
Kouassi Nzoughet J, Chao de la Barca JM, Guehlouz K, Leruez S, Coulbault L, Allouche S, Bocca C, Muller J, Amati-Bonneau P, Gohier P, Bonneau D, Simard G, Milea D, Lenaers G, Procaccio V, Reynier P.Kouassi Nzoughet J, et al. Among authors: procaccio v. Invest Ophthalmol Vis Sci. 2019 Jun 3;60(7):2509-2514. doi: 10.1167/iovs.19-27099.Invest Ophthalmol Vis Sci. 2019. PMID: 31185090
eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data.
Goudenège D, Bris C, Hoffmann V, Desquiret-Dumas V, Jardel C, Rucheton B, Bannwarth S, Paquis-Flucklinger V, Lebre AS, Colin E, Amati-Bonneau P, Bonneau D, Reynier P, Lenaers G, Procaccio V.Goudenège D, et al. Among authors: procaccio v. Genet Med. 2019 Jun;21(6):1407-1416. doi: 10.1038/s41436-018-0350-8. Epub 2018 Nov 5.Genet Med. 2019. PMID: 30393377
Identification of a novel splice site mutation in the SERAC1 gene responsible for the MEGDHEL syndrome.
Snanoudj S, Mordel P, Dupas Q, Schanen C, Arion A, Gérard M, Read MH, Nait Rabah D, Goux D, Chapon F, Jokic M, Allouche S.Snanoudj S, et al. Among authors: gerard m. Mol Genet Genomic Med. 2019 Aug;7(8):e815. doi: 10.1002/mgg3.815. Epub 2019 Jun 28.Mol Genet Genomic Med. 2019. PMID: 31251474
Lipidomics Reveals Triacylglycerol Accumulation Due to Impaired Fatty Acid Flux in Opa1-Disrupted Fibroblasts.
Bocca C, Kane MS, Veyrat-Durebex C, Nzoughet JK, Chao de la Barca JM, Chupin S, Alban J, Procaccio V, Bonneau D, Simard G, Lenaers G, Reynier P, Chevrollier A.Bocca C, et al. Among authors: procaccio v. J Proteome Res. 2019 Jul 5;18(7):2779-2790. doi: 10.1021/acs.jproteome.9b00081. Epub 2019 Jun 14.J Proteome Res. 2019. PMID: 31199663
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group, Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H.Salpietro V, et al. Among authors: procaccio v. Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w.Nat Commun. 2019. PMID: 31300657
Nephrotic syndrome and mitochondrial disorders: answers.
Bernardor J, Faudeux C, Chaussenot A, Antignac C, Goldenberg A, Gubler MC, Wagner N, Bérard E.Bernardor J, et al. Among authors: goldenberg a. Pediatr Nephrol. 2019 Aug;34(8):1375-1377. doi: 10.1007/s00467-019-04217-7. Epub 2019 Mar 12.Pediatr Nephrol. 2019. PMID: 30863911
Warburg-like effect is a hallmark of complex I assembly defects.
Desquiret-Dumas V, Leman G, Wetterwald C, Chupin S, Lebert A, Khiati S, Le Mao M, Geffroy G, Kane MS, Chevrollier A, Goudenege D, Gadras C, Tessier L, Barth M, Leruez S, Amati-Bonneau P, Henrion D, Bonneau D, Procaccio V, Reynier P, Lenaers G, Gueguen N.Desquiret-Dumas V, et al. Among authors: procaccio v. Biochim Biophys Acta Mol Basis Dis. 2019 Sep 1;1865(9):2475-2489. doi: 10.1016/j.bbadis.2019.05.011. Epub 2019 May 20.Biochim Biophys Acta Mol Basis Dis. 2019. PMID: 31121247
OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database.
Le Roux B, Lenaers G, Zanlonghi X, Amati-Bonneau P, Chabrun F, Foulonneau T, Caignard A, Leruez S, Gohier P, Procaccio V, Milea D, den Dunnen JT, Reynier P, Ferré M.Le Roux B, et al. Among authors: procaccio v. Orphanet J Rare Dis. 2019 Sep 10;14(1):214. doi: 10.1186/s13023-019-1187-1.Orphanet J Rare Dis. 2019. PMID: 31500643
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light.
Garret P, Bris C, Procaccio V, Amati-Bonneau P, Vabres P, Houcinat N, Tisserant E, Feillet F, Bruel AL, Quéré V, Philippe C, Sorlin A, Tran Mau-Them F, Vitobello A, Costa JM, Boughalem A, Trost D, Faivre L, Thauvin-Robinet C, Duffourd Y.Garret P, et al. Among authors: procaccio v. Hum Mutat. 2019 Dec;40(12):2430-2443. doi: 10.1002/humu.23885. Epub 2019 Aug 26.Hum Mutat. 2019. PMID: 31379041