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Bruno RINALDI
Bruno RINALDI
Adresse e-mail validée de unistra.fr
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Poly (ADP-ribose) polymerase-2 (PARP-2) is required for efficient base excision DNA repair in association with PARP-1 and XRCC1
V Schreiber, JC Amé, P Dollé, I Schultz, B Rinaldi, V Fraulob, ...
Journal of Biological Chemistry 277 (25), 23028-23036, 2002
9192002
Poly (ADP-ribose) polymerase-2 (PARP-2) is required for efficient base excision DNA repair in association with PARP-1 and XRCC1
V Schreiber, JC Amé, P Dollé, I Schultz, B Rinaldi, V Fraulob, ...
Journal of Biological Chemistry 277 (25), 23028-23036, 2002
9192002
WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy
M Kannan, E Bayam, C Wagner, B Rinaldi, PF Kretz, P Tilly, M Roos, ...
Proceedings of the National Academy of Sciences 114 (44), E9308-E9317, 2017
892017
Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation
BS Cowling, I Prokic, H Tasfaout, A Rabai, F Humbert, B Rinaldi, AS Nicot, ...
The Journal of clinical investigation 127 (12), 4477-4487, 2017
772017
Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice
L Amoasii, DL Bertazzi, H Tronchère, K Hnia, G Chicanne, B Rinaldi, ...
Public Library of Science 8 (10), e1002965, 2012
632012
Structure of ad (TGGGGT) quadruplex crystallized in the presence of Li+ ions
C Creze, B Rinaldi, R Haser, P Bouvet, P Gouet
Acta Crystallographica Section D: Biological Crystallography 63 (6), 682-688, 2007
602007
NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammation
CN Castro, M Rosenzwajg, R Carapito, M Shahrooei, M Konantz, A Khan, ...
Journal of Experimental Medicine 217 (12), e20192275, 2020
552020
Pkh1/2-dependent phosphorylation of Vps27 regulates ESCRT-I recruitment to endosomes
J Morvan, B Rinaldi, S Friant
Molecular Biology of the Cell 23 (20), 4054-4064, 2012
362012
Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy
MA Raess, BS Cowling, DL Bertazzi, C Kretz, B Rinaldi, JM Xuereb, ...
Human molecular genetics 26 (19), 3736-3748, 2017
282017
Study of the plant COPII vesicle coat subunits by functional complementation of yeast Saccharomyces cerevisiae mutants
JO De Craene, F Courte, B Rinaldi, C Fitterer, MC Herranz, ...
PLoS One 9 (2), e90072, 2014
242014
Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy
MT Sainio, S Välipakka, B Rinaldi, H Lapatto, A Paetau, S Ojanen, ...
Journal of Neurology 266, 353-360, 2019
192019
Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy
S Scheidecker, S Bär, C Stoetzel, V Geoffroy, B Lannes, B Rinaldi, ...
Human mutation 40 (10), 1826-1840, 2019
182019
Lsb1 is a negative regulator of las17 dependent actin polymerization involved in endocytosis
M Spiess, JO de Craene, A Michelot, B Rinaldi, A Huber, DG Drubin, ...
PLoS One 8 (4), e61147, 2013
172013
Contributions of the RNA-binding and linker domains and RNA structure to the specificity and affinity of the nucleolin RBD12/NRE interaction
LD Finger, C Johansson, B Rinaldi, P Bouvet, J Feigon
Biochemistry 43 (22), 6937-6947, 2004
152004
Btn3 regulates the endosomal sorting function of the yeast Ent3 epsin, an adaptor for SNARE proteins
J Morvan, JO de Craene, B Rinaldi, V Addis, C Misslin, S Friant
Journal of cell science 128 (4), 706-716, 2015
122015
A Homozygous Missense Variant in PPP1R1B/DARPP‐32 Is Associated With Generalized Complex Dystonia
A Khan, A Molitor, S Mayeur, G Zhang, B Rinaldi, B Lannes, B Lhermitte, ...
Movement Disorders 37 (2), 365-374, 2022
112022
Bi-allelic variants in WDR47 lead to neuronal loss causing a rare neurodevelopmental syndrome with corpus callosum dysgenesis in humans.
E Bayam, P Tilly, S Collins, J Rivera Alvarez, M Kannan, L Tonneau, ...
bioRxiv, 2023.12. 22.572779, 2023
2023
Cex1 is a component of the COPI intracellular trafficking machinery
L Enkler, B Rinaldi, JO de Craene, P Hammann, O Nureki, B Senger, ...
Biology Open 10 (3), bio058528, 2021
2021
Whole Exome Sequencing in unsolved pediatric cases
G Moresco, O Rondinone, A Mauri, C Santaniello, J Costanza, B Rinaldi, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 933-933, 2020
2020
A homozygous missense mutation in an highly conserved autosomal gene coding poly (A)-binding protein cause female infertility due to oocyte maturation arrest at GV stage
O Okutman, AS Gürbüz, U Büyük, S Friant, B Rinaldi, J Muller, S Viville
HUMAN REPRODUCTION 35, I373-I374, 2020
2020
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