Mutations in PROSC disrupt cellular pyridoxal phosphate homeostasis and cause vitamin-B6-dependent epilepsy N Darin, E Reid, L Prunetti, L Samuelsson, RA Husain, M Wilson, ... The American Journal of Human Genetics 99 (6), 1325-1337, 2016 | 147 | 2016 |
tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy S Edvardson, L Prunetti, A Arraf, D Haas, JM Bacusmo, JF Hu, A Ta-Shma, ... European Journal of Human Genetics 25 (5), 545-551, 2017 | 84 | 2017 |
Evidence that COG0325 proteins are involved in PLP homeostasis L Prunetti, B El Yacoubi, CR Schiavon, E Kirkpatrick, L Huang, M Bailly, ... Microbiology 162 (4), 694-706, 2016 | 63 | 2016 |
New Insights into the Respiratory Chains of the Chemolithoautotrophic and Hyperthermophilic Bacterium Aquifex aeolicus M Guiral, L Prunetti, S Lignon, R Lebrun, D Moinier, MT Giudici-Orticoni Journal of proteome research 8 (4), 1717-1730, 2009 | 53 | 2009 |
New functional sulfide oxidase-oxygen reductase supercomplex in the membrane of the hyperthermophilic bacterium Aquifex aeolicus L Prunetti, P Infossi, M Brugna, C Ebel, MT Giudici-Orticoni, M Guiral Journal of biological chemistry 285 (53), 41815-41826, 2010 | 47 | 2010 |
Archaeal JAB 1/MPN/MOV 34 metalloenzyme (HvJAMM 1) cleaves ubiquitin‐like small archaeal modifier proteins (SAMP s) from protein‐conjugates NL Hepowit, S Uthandi, HV Miranda, M Toniutti, L Prunetti, O Olivarez, ... Molecular microbiology 86 (4), 971-987, 2012 | 46 | 2012 |
The hyperthermophilic bacterium Aquifex aeolicus: from respiratory pathways to extremely resistant enzymes and biotechnological applications M Guiral, L Prunetti, C Aussignargues, A Ciaccafava, P Infossi, M Ilbert, ... Advances in Microbial Physiology 61, 125-194, 2012 | 44 | 2012 |
Evidence that the metabolite repair enzyme NAD (P) HX epimerase has a moonlighting function TD Niehaus, M Elbadawi-Sidhu, L Huang, L Prunetti, JF Gregory III, ... Bioscience reports 38 (3), BSR20180223, 2018 | 27 | 2018 |
Chemical cross‐linking, mass spectrometry, and in silico modeling of proteasomal 20S core particles of the haloarchaeon Haloferax volcanii I Karadzic, J Maupin‐Furlow, M Humbard, L Prunetti, P Singh, ... Proteomics 12 (11), 1806-1814, 2012 | 23 | 2012 |
GlpR is a direct transcriptional repressor of fructose metabolic genes in Haloferax volcanii JH Martin, K Sherwood Rawls, JC Chan, S Hwang, M Martinez-Pastor, ... Journal of Bacteriology 200 (17), 10.1128/jb. 00244-18, 2018 | 20 | 2018 |
Deciphering the translation initiation factor 5A modification pathway in halophilic archaea L Prunetti, M Graf, IK Blaby, L Peil, AM Makkay, AL Starosta, RT Papke, ... Archaea 2016, 2016 | 20 | 2016 |
Enhanced archaeal laccase production in recombinant Escherichia coli by modification of N-terminal propeptide and twin arginine translocation motifs S Uthandi, L Prunetti, IMS De Vera, GE Fanucci, A Angerhofer, ... Journal of Industrial Microbiology and Biotechnology 39 (10), 1523-1532, 2012 | 19 | 2012 |
The elusive third subunit IIa of the bacterial B-type oxidases: the enzyme from the hyperthermophile Aquifex aeolicus L Prunetti, M Brugna, R Lebrun, MT Giudici-Orticoni, M Guiral PLoS One 6 (6), e21616, 2011 | 17 | 2011 |
Excessive seizure clusters in an otherwise well-controlled epilepsy as a possible hallmark of untreated vitamin B6-responsive epilepsy due to a homozygous PLPBP missense variant J Johannsen, T Bierhals, P Deindl, L Hecher, K Hermann, M Hempel, ... Journal of Pediatric Genetics 8 (04), 222-225, 2019 | 13 | 2019 |
Members of a novel kinase family (DUF1537) can recycle toxic intermediates into an essential metabolite JJ Thiaville, J Flood, S Yurgel, L Prunetti, M Elbadawi-Sidhu, G Hutinet, ... ACS chemical biology 11 (8), 2304-2311, 2016 | 13 | 2016 |
Structural and biochemical properties of an extreme ‘salt-loving’ proteasome activating nucleotidase from the archaeon Haloferax volcanii L Prunetti, CJ Reuter, NL Hepowit, Y Wu, L Barrueto, HV Miranda, K Kelly, ... Extremophiles 18, 283-293, 2014 | 13 | 2014 |
Neuroimaging spectrum of inherited neurotransmitter disorders YT Lim, K Mankad, M Kinali, AP Tan Neuropediatrics 51 (01), 006-021, 2020 | 11 | 2020 |
Insertion and self-diffusion of a monotopic protein, the Aquifex aeolicus sulfide quinone reductase, in supported lipid bilayers F Harb, L Prunetti, MT Giudici-Orticoni, M Guiral, B Tinland The European Physical Journal E 38, 1-11, 2015 | 10 | 2015 |
Pyridoxine responsive seizures: beyond aldehyde dehydrogenase 7A1 R Koul, A Alfutaisi, R Abdelrahim, K Altihilli Journal of Neurosciences in Rural Practice 10 (04), 613-616, 2019 | 8 | 2019 |
Simultaneous tracking of two motor domains reveals near simultaneous steps and stutter steps of myosin 10 on actin filament bundles X Qin, H Yoo, HCM Cheng, QQ Nguyen, J Li, X Liu, L Prunetti, X Chen, ... Biochemical and biophysical research communications 525 (1), 94-99, 2020 | 4 | 2020 |