Alyson MacInnes

Research output

Research output per year 2014 2016 2018 2019 2020 2022 2022

• 16 Article
• 1 Chapter
• 1 Review article

Research output per year

Research output per year

Search results

• 2022

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

  O'Donohue, M-F., da Costa, L., Lezzerini, M., Unal, S., Joret, C., Bartels, M., Brilstra, E., Scheijde-Vermeulen, M., Wacheul, L., de Keersmaecker, K., Vereecke, S., Labarque, V., Saby, M., Lefevre, S. D., Platon, J., Montel-Lehry, N., Laugero, N., Lacazette, E., van Gassen, K., Houtkooper, R. H., & 8 othersSimsek-Kiper, P. O., Leblanc, T., Yarali, N., Cetinkaya, A., Akarsu, N. A., Gleizes, P-E., Lafontaine, D. L. J. & MacInnes, A. W., 26 May 2022, In: Blood. 139, 21, p. 3111-3126 16 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  12 Citations (Scopus)

• Reduced ech-6 expression attenuates fat-induced lifespan shortening in C. elegans

  Liu, Y. J., Gao, A. W., Smith, R. L., Janssens, G. E., Panneman, D. M., Jongejan, A., van Weeghel, M., Vaz, F. M., Silvestrini, M. J., Lapierre, L. R., MacInnes, A. W. & Houtkooper, R. H., 1 Dec 2022, In: Scientific reports. 12, 1, 3350.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  5 Citations (Scopus)
• 2021

  Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy

  Bonora, E., Chakrabarty, S., Kellaris, G., Tsutsumi, M., Bianco, F., Bergamini, C., Ullah, F., Isidori, F., Liparulo, I., Diquigiovanni, C., Masin, L., Rizzardi, N., Cratere, M. G., Boschetti, E., Papa, V., Maresca, A., Cenacchi, G., Casadio, R., Martelli, P., Matera, I., & 47 othersCeccherini, I., Fato, R., Raiola, G., Arrigo, S., Signa, S., Sementa, A. R., Severino, M., Striano, P., Fiorillo, C., Goto, T., Uchino, S., Oyazato, Y., Nakamura, H., Mishra, S. K., Yeh, Y-S., Kato, T., Nozu, K., Tanboon, J., Morioka, I., Nishino, I., Toda, T., Goto, Y-I., Ohtake, A., Kosaki, K., Yamaguchi, Y., Nonaka, I., Iijima, K., Mimaki, M., Kurahashi, H., Raams, A., Macinnes, A., Alders, M., Engelen, M., Linthorst, G., de Koning, T., den Dunnen, W., Dijkstra, G., van Spaendonck, K., van Gent, D. C., Aronica, E. M., Picco, P., Carelli, V., Seri, M., Katsanis, N., Duijkers, F. A. M., Taniguchi-Ikeda, M. & de Giorgio, R., 1 May 2021, In: Brain. 144, 5, p. 1451-1466 16 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  27 Citations (Scopus)
• 2020

  A Conserved Mito-Cytosolic Translational Balance Links Two Longevity Pathways

  Molenaars, M., Janssens, G. E., Williams, E. G., Jongejan, A., Lan, J., Rabot, S., Joly, F., Moerland, P. D., Schomakers, B. V., Lezzerini, M., Liu, Y. J., McCormick, M. A., Kennedy, B. K., van Weeghel, M., van Kampen, A. H. C., Aebersold, R., MacInnes, A. W. & Houtkooper, R. H., 3 Mar 2020, In: Cell metabolism. 31, 3, p. 549-563.e7

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  72 Citations (Scopus)

• Driver mutations of the adenoma-carcinoma sequence govern the intestinal epithelial global translational capacity

  Smit, W. L., Spaan, C. N., de Boer, R. J., Ramesh, P., Garcia, T. N. M., Meijer, B. J., Vermeulen, J. L. M., Lezzerini, M., MacInnes, A. W., Koster, J., Medema, J. P., van den Brink, G. R., Muncan, V. & Heijmans, J., 13 Oct 2020, In: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 117, 41, p. 25560-25570 11 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  44 Citations (Scopus)

• Mitochondrial translation and dynamics synergistically extend lifespan in C. elegans through HLH-30

  Liu, Y. J., McIntyre, R. L., Janssens, G. E., Williams, E. G., Lan, J., van Weeghel, M., Schomakers, B., van der Veen, H., van der Wel, N. N., Yao, P., Mair, W. B., Aebersold, R., MacInnes, A. W. & Houtkooper, R. H., Apr 2020, In: Journal of cell biology. 219, 6, e201907067.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  32 Citations (Scopus)

• Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism

  Lezzerini, M., Penzo, M., O'Donohue, M-F., Marques Dos Santos Vieira, C., Saby, M., Elfrink, H. L., Diets, I. J., Hesse, A-M., Couté, Y., Gastou, M., Nin-Velez, A., Nikkels, P. G. J., Olson, A. N., Zonneveld-Huijssoon, E., Jongmans, M. C. J., Zhang, G., van Weeghel, M., Houtkooper, R. H., Wlodarski, M. W., Kuiper, R. P., & 8 othersBierings, M. B., van der Werff ten Bosch, J., Leblanc, T., Montanaro, L., Dinman, J. D., da Costa, L., Gleizes, P-E. & MacInnes, A. W., 24 Jan 2020, In: Nucleic Acids Research. 48, 2, p. 770-787 18 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  24 Citations (Scopus)
• 2019

  A uniparental isodisomy event introducing homozygous pathogenic variants drives a multisystem metabolic disorder

  Daniels, E. G., Alders, M., Lezzerini, M., McDonald, A., Peters, M., Kuijpers, T. W., Lakeman, P., Houtkooper, R. H. & MacInnes, A. W., 2019, In: Cold Spring Harbor molecular case studies. 5, 6, a004457.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  2 Citations (Scopus)

• Glycine promotes longevity in caenorhabditis elegans in a methionine cycle-dependent fashion

  Liu, Y. J., Janssens, G. E., McIntyre, R. L., Molenaars, M., Kamble, R., Gao, A. W., Jongejan, A., Van Weeghel, M., Macinnes, A. W. & Houtkooper, R. H., 1 Mar 2019, In: PLoS genetics. 15, 3, p. e1007633 e1007633.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  43 Citations (Scopus)

• HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans

  Duijkers, F. A., McDonald, A., Janssens, G. E., Lezzerini, M., Jongejan, A., van Koningsbruggen, S., Leeuwenburgh-Pronk, W. G., Wlodarski, M. W., Moutton, S., Tran-Mau-Them, F., Thauvin-Robinet, C., Faivre, L., Monaghan, K. G., Smol, T., Boute-Benejean, O., Ladda, R. L., Sell, S. L., Bruel, A-L., Houtkooper, R. H. & MacInnes, A. W., 6 Jun 2019, In: American journal of human genetics. 104, 6, p. 1040-1059 20 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  26 Citations (Scopus)
• 2018

  Mitochondrial ubiquinone–mediated longevity is marked by reduced cytoplasmic mRNA translation

  Molenaars, M., Janssens, G. E., Santermans, T., Lezzerini, M., Jelier, R., MacInnes, A. W. & Houtkooper, R. H., 2018, In: Life Science Alliance. 1, 5, e201800082.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  11 Citations (Scopus)

• Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience

  Da Costa, L., O'Donohue, M-F., van Dooijeweert, B., Albrecht, K., Unal, S., Ramenghi, U., Dianzani, I., Tamary, H., Bartels, M., Gleizes, P-E., Wlodarski, M. & MacInnes, A. W., 2018, In: European journal of medical genetics. 61, 11, p. 664-673

  Research output: Contribution to journal › Article › Academic › peer-review
  51 Citations (Scopus)

• Pediatric Diamond-Blackfan anemia in the Netherlands: An overview of clinical characteristics and underlying molecular defects

  van Dooijeweert, B., van Ommen, C. H., Smiers, F. J., Tamminga, R. Y. J., te Loo, M. W., Donker, A. E., Peters, M., Granzen, B., Gille, H. J. J. P., Bierings, M. B., MacInnes, A. W. & Bartels, M., 2018, In: European journal of haematology. 100, 2, p. 163-170

  Research output: Contribution to journal › Article › Academic › peer-review
  17 Citations (Scopus)

• Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in diamond-blackfan anemia

  Wlodarski, M. W., da Costa, L., O'donohue, M-F., Gastou, M., Karboul, N., Montel-Lehry, N., Hainmann, I., Danda, D., Szvetnik, A., Pastor, V., Paolini, N., di Summa, F. M., Tamary, H., Quider, A. A., Aspesi, A., Houtkooper, R. H., Leblanc, T., Niemeyer, C. M., Gleizes, P-E. & Macinnes, A. W., 2018, In: Haematologica. 103, 6, p. 949-958

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  21 Citations (Scopus)
• 2017

  A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism

  Paolini, N. A., Attwood, M., Sondalle, S. B., Vieira, C. M. D. S., van Adrichem, A. M., di Summa, F. M., O'Donohue, M-F., Gleizes, P-E., Rachuri, S., Briggs, J. W., Fischer, R., Ratcliffe, P. J., Wlodarski, M. W., Houtkooper, R. H., von Lindern, M., Kuijpers, T. W., Dinman, J. D., Baserga, S. J., Cockman, M. E. & MacInnes, A. W., 2017, In: American journal of human genetics. 100, 3, p. 506-522

  Research output: Contribution to journal › Article › Academic › peer-review
  62 Citations (Scopus)
• 2014

  Ribosomal protein mutations induce autophagy through S6 kinase inhibition of the insulin pathway

  Heijnen, H. F., van Wijk, R., Pereboom, T. C., Goos, Y. J., Seinen, C. W., van Oirschot, B. A., van Dooren, R., Gastou, M., Giles, R. H., van Solinge, W., Kuijpers, T. W., Gazda, H. T., Bierings, M. B., Da Costa, L. & MacInnes, A. W., 2014, In: PLoS genetics. 10, 5, p. e1004371

  Research output: Contribution to journal › Article › Academic › peer-review
  51 Citations (Scopus)