HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia

Authors: O'Donohue, Marie-Françoise, Da Costa, Lydie, Lezzerini, Marco, Unal, Sule, Joret, Clément, Bartels, Marije, Brilstra, Eva, Scheijde-Vermeulen, Marijn, Wacheul, Ludivine, De Keersmaecker, Kim, Vereecke, Stijn, Labarque, Veerle, Saby, Manon, Lefevre, Sophie D., Platon, Jessica, Montel-Lehry, Nathalie, Laugero, Nathalie, Lacazette, Eric, van Gassen, Koen, Houtkooper, Riekelt H., Simsek-Kiper, Pelin Ozlem, Leblanc, Thierry, Yarali, Nese, Cetinkaya, Arda, Akarsu, Nurten A., Gleizes, Pierre-Emmanuel, Lafontaine, Denis L.J., MacInnes, Alyson W.

Source: Blood. 139(21):3111-3126

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100183252825.0x000001&indx=1&recIds=ETOCvdc_100183252825.0x000001

The G-patch activators Pfa1 and PINX1 exhibit different modes of interaction with the Prp43 RNA helicase

Authors: Mouffok, Saïda, Capeyrou, Régine, Belhabich-Baumas, Kamila, Joret, Clément, Henras, Anthony K., Humbert, Odile, Henry, Yves

Source: RNA biology. 18(4):510-522

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100121050713.0x000001&indx=1&recIds=ETOCvdc_100121050713.0x000001

The Npa1p complex chaperones the assembly of the earliest eukaryotic large ribosomal subunit precursor.

Authors: Joret, Clément¹, Capeyrou, Régine¹, Belhabich-Baumas, Kamila¹, Plisson-Chastang, Célia¹, Ghandour, Rabea¹, Humbert, Odile¹, Fribourg, Sébastien², Leulliot, Nicolas³, Lebaron, Simon¹ lebaron@ibcg.biotoul.fr, Henras, Anthony K.¹ henras@ibcg.biotoul.fr, Henry, Yves¹ henry@ibcg.biotoul.fr

Source: PLoS Genetics. 8/31/2018, Vol. 14 Issue 8, p1-30. 30p.

Subject Terms: *RNA helicase, *RIBOSOMAL RNA, *PEPTIDYLTRANSFERASE, *PROTEINS, *GENE expression, *PROTEIN crosslinking

HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia

Authors: O’Donohue, Marie-Françoise, Da Costa, Lydie, Lezzerini, Marco, Unal, Sule, Joret, Clément, Bartels, Marije, Brilstra, Eva, Scheijde-Vermeulen, Marijn, Wacheul, Ludivine, De Keersmaecker, Kim, Vereecke, Stijn, Labarque, Veerle, Saby, Manon, Lefevre, Sophie D., Platon, Jessica, Montel-Lehry, Nathalie, Laugero, Nathalie, Lacazette, Eric, van Gassen, Koen, Houtkooper, Riekelt H., Simsek-Kiper, Pelin Ozlem, Leblanc, Thierry, Yarali, Nese, Cetinkaya, Arda, Akarsu, Nurten A., Gleizes, Pierre-Emmanuel, Lafontaine, Denis L. J., MacInnes, Alyson W.

Source: Blood; May 2022, Vol. 139 Issue: 21 p3111-3126, 16p

The DEAH-box RNA helicase Dhr1 contains a remarkable carboxyl terminal domain essential for small ribosomal subunit biogenesis.

Authors: Roychowdhury, Amlan, Joret, Clément, Bourgeois, Gabrielle, Heurgué-Hamard, Valérie, Lafontaine, Denis L J, Graille, Marc

Source: Nucleic Acids Research; 8/22/2019, Vol. 47 Issue 14, p7548-7563, 16p

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HEATR3variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia

Authors: O’Donohue, Marie-Françoise, Da Costa, Lydie, Lezzerini, Marco, Unal, Sule, Joret, Clément, Bartels, Marije, Brilstra, Eva, Scheijde-Vermeulen, Marijn, Wacheul, Ludivine, De Keersmaecker, Kim, Vereecke, Stijn, Labarque, Veerle, Saby, Manon, Lefevre, Sophie D., Platon, Jessica, Montel-Lehry, Nathalie, Laugero, Nathalie, Lacazette, Eric, van Gassen, Koen, Houtkooper, Riekelt H., Simsek-Kiper, Pelin Ozlem, Leblanc, Thierry, Yarali, Nese, Cetinkaya, Arda, Akarsu, Nurten A., Gleizes, Pierre-Emmanuel, Lafontaine, Denis L.J., MacInnes, Alyson W.

Source: Blood; 20220101, Issue: Preprints