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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1985 1
1993 1
2006 1
2009 1
2010 1
2011 2
2014 1
2016 1
2017 1
2020 1
2022 3
2023 2
2024 0

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15 results

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Page 1
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.
Van Haute L, O'Connor E, Díaz-Maldonado H, Munro B, Polavarapu K, Hock DH, Arunachal G, Athanasiou-Fragkouli A, Bardhan M, Barth M, Bonneau D, Brunetti-Pierri N, Cappuccio G, Caruana NJ, Dominik N, Goel H, Helman G, Houlden H, Lenaers G, Mention K, Murphy D, Nandeesh B, Olimpio C, Powell CA, Preethish-Kumar V, Procaccio V, Rius R, Rebelo-Guiomar P, Simons C, Vengalil S, Zaki MS, Ziegler A, Thorburn DR, Stroud DA, Maroofian R, Christodoulou J, Gustafsson C, Nalini A, Lochmüller H, Minczuk M, Horvath R. Van Haute L, et al. Among authors: procaccio v. Nat Commun. 2023 Feb 23;14(1):1009. doi: 10.1038/s41467-023-36277-7. Nat Commun. 2023. PMID: 36823193 Free PMC article.
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.
Accogli A, Lin SJ, Severino M, Kim SH, Huang K, Rocca C, Landsverk M, Zaki MS, Al-Maawali A, Srinivasan VM, Al-Thihli K, Schaefer GB, Davis M, Tonduti D, Doneda C, Marten LM, Mühlhausen C, Gomez M, Lamantea E, Mena R, Nizon M, Procaccio V, Begtrup A, Telegrafi A, Cui H, Schulz HL, Mohr J, Biskup S, Loos MA, Aráoz HV, Salpietro V, Keppen LD, Chitre M, Petree C, Raymond L, Vogt J, Sawyer LB, Basinger AA, Pedersen SV, Pearson TS, Grange DK, Lingappa L, McDunnah P, Horvath R, Cognè B, Isidor B, Hahn A, Gripp KW, Jafarnejad SM, Østergaard E, Prada CE, Ghezzi D, Gowda VK, Taylor RW, Sonenberg N, Houlden H, Sissler M, Varshney GK, Maroofian R. Accogli A, et al. Among authors: procaccio v. Genet Med. 2023 Nov;25(11):100938. doi: 10.1016/j.gim.2023.100938. Epub 2023 Jul 13. Genet Med. 2023. PMID: 37454282 Free PMC article.
A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.
Ganapathi M, Friocourt G, Gueguen N, Friederich MW, Le Gac G, Okur V, Loaëc N, Ludwig T, Ka C, Tanji K, Marcorelles P, Theodorou E, Lignelli-Dipple A, Voisset C, Walker MA, Briere LC, Bourhis A, Blondel M, LeDuc C, Hagen J, Cooper C, Muraresku C, Ferec C, Garenne A, Lelez-Soquet S, Rogers CA, Shen Y, Strode DK, Bizargity P, Iglesias A, Goldstein A, High FA, Network UD, Sweetser DA, Ganetzky R, Van Hove JLK, Procaccio V, Le Marechal C, Chung WK. Ganapathi M, et al. Among authors: procaccio v. J Inherit Metab Dis. 2022 Sep;45(5):996-1012. doi: 10.1002/jimd.12526. Epub 2022 Jul 11. J Inherit Metab Dis. 2022. PMID: 35621276 Free PMC article.
Most complex V subunits are nuclear encoded and not yet associated with recognized Mendelian disorders. ...Fibroblasts from the affected individuals demonstrated decreased ATP5PO protein, defective assembly of complex V with markedly reduced amounts of peripheral st …
Most complex V subunits are nuclear encoded and not yet associated with recognized Mendelian disorders. ...Fibroblasts from the affec …
[Continuous monitoring of brain electrical activity as a guide to treatment of acute brain lesion].
Procaccio F. Procaccio F. Minerva Anestesiol. 1993 Nov;59(11):577-80. Minerva Anestesiol. 1993. PMID: 8170594 Review. Italian.
Values of CFM lower border voltage predict the efficacy of hypnotic agents in ICP reduction therapy after severe head injury. Hyperventilation, mannitol and i.v. anaesthetic agents may be beneficial or detrimental in different conditions of CBF and metabolic demand; concom …
Values of CFM lower border voltage predict the efficacy of hypnotic agents in ICP reduction therapy after severe head injury. Hyperventilati …
Neuropsychological Features of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series.
Riquin E, Barth M, Le Nerzé T, Pasquini N, Prouteau C, Colin E, Amati Bonneau P, Procaccio V, Van Bogaert P, Duverger P, Bonneau D, Roy A. Riquin E, et al. Among authors: procaccio v. Front Psychiatry. 2022 Apr 7;13:864445. doi: 10.3389/fpsyt.2022.864445. eCollection 2022. Front Psychiatry. 2022. PMID: 35463509 Free PMC article.
Participants and their parents completed an anamnestic form describing socio-demographic data and completed the WISC-V (Wechsler Intelligence Scale for Children, 5th edition) and the Parent and Teacher forms of the BRIEF (Behavior Rating Inventory of Executive Function). . …
Participants and their parents completed an anamnestic form describing socio-demographic data and completed the WISC-V (Wechsler Inte …
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 Free PMC article.
Central Role of P2Y6 UDP Receptor in Arteriolar Myogenic Tone.
Kauffenstein G, Tamareille S, Prunier F, Roy C, Ayer A, Toutain B, Billaud M, Isakson BE, Grimaud L, Loufrani L, Rousseau P, Abraham P, Procaccio V, Monyer H, de Wit C, Boeynaems JM, Robaye B, Kwak BR, Henrion D. Kauffenstein G, et al. Among authors: procaccio v. Arterioscler Thromb Vasc Biol. 2016 Aug;36(8):1598-606. doi: 10.1161/ATVBAHA.116.307739. Epub 2016 Jun 2. Arterioscler Thromb Vasc Biol. 2016. PMID: 27255725 Free PMC article.
Succinate dehydrogenase is a direct target of sirtuin 3 deacetylase activity.
Finley LW, Haas W, Desquiret-Dumas V, Wallace DC, Procaccio V, Gygi SP, Haigis MC. Finley LW, et al. Among authors: procaccio v. PLoS One. 2011;6(8):e23295. doi: 10.1371/journal.pone.0023295. Epub 2011 Aug 17. PLoS One. 2011. PMID: 21858060 Free PMC article.
METHODOLOGY/PRINCIPAL FINDINGS: In this study, we performed a proteomic screen to identify SIRT3 interacting proteins and identified several subunits of complex II and V of the electron transport chain. Two subunits of complex II (also known as succinate dehydrogenase, or …
METHODOLOGY/PRINCIPAL FINDINGS: In this study, we performed a proteomic screen to identify SIRT3 interacting proteins and identified several …
Bioenergetic defect associated with mKATP channel opening in a mouse model carrying a mitofusin 2 mutation.
Guillet V, Gueguen N, Cartoni R, Chevrollier A, Desquiret V, Angebault C, Amati-Bonneau P, Procaccio V, Bonneau D, Martinou JC, Reynier P. Guillet V, et al. Among authors: procaccio v. FASEB J. 2011 May;25(5):1618-27. doi: 10.1096/fj.10-173609. Epub 2011 Feb 1. FASEB J. 2011. PMID: 21285398 Free article.
Oxygraphic and enzymatic measurements both revealed a combined defect of mitochondrial complexes II and V (40 and 30% decrease, respectively) in the brain of Tg-R94 mice, leading to a drastic decrease of ATP synthesis. ...Our results show that the R94Q MFN2 mutation induce …
Oxygraphic and enzymatic measurements both revealed a combined defect of mitochondrial complexes II and V (40 and 30% decrease, respe …
15 results