CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

Gehin, Charlotte; Lone, Museer A.; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M.; Gerkes, Erica H.; Stegmann, Alexander Pa A.; López-Martín, Estrella; Bermejo-Sánchez, Eva; Martínez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Gräfe, Daniel; Knerr, Ina; Jones, Eppie R.; Zamuner, Stefano; Abriata, Luciano A.; Kunnathully, Vidya; Moeller, Brandon E.; Vocat, Anthony; Rommelaere, Samuel; Bocquete, Jean-Philippe; Ruchti, Evelyne; Limoni, Greta; Van Campenhoudt, Marine; Bourgeat, Samuel; Henklein, Petra; Gilissen, Christian; van Bon, Bregje W.; Pfundt, Rolph; Willemsen, Marjolein H.; Schieving, Jolanda H.; Leonardi, Emanuela; Soli, Fiorenza; Murgia, Alessandra; Guo, Hui; Zhang, Qiumeng; Xia, Kun; Fagerberg, Christina Ringmann; Beier, Christoph Patrick; Larsen, Martin Jakob; Valenzuela, Irene; Fernández-Álvarez, Paula; Xiong, Shiyi; Śmigiel, Robert; López-González, Vanesa; Armengol, Lluís; Morleo, Manuela; Selicorni, Angelo; Torella, Annalaura; Blyth, Moira; Cooper, Nicola S.; Wilson, Valerie; Oegema, Renske; Herenger, Yvan; Garde, Aurore; Bruel, Ange-Line; Mau-Them, Frederic Tran; Tran Mau-Them, Frederic; Maddocks, Alexis Br R.; Bain, Jennifer M.; Bhat, Musadiq A.; Costain, Gregory; Kannu, Peter; Marwaha, Ashish; Champaigne, Neena L.; Friez, Michael J.; Richardson, Ellen B.; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Gupta, Yask; Lim, Tze Y.; Sanna-Cherchi, Simone; Lemaitre, Bruno; Yamaji, Toshiyuki; Hanada, Kentaro; Burke, John E.; Jakšić, Ana Marjia; McCabe, Brian D.; De Los Rios, Paolo; Hornemann, Thorsten; D'Angelo, Giovanni; D’Angelo, Giovanni; Gennarino, Vincenzo A.

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Charlotte Gehin
Gehin et al., 2023

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American Society for Clinical Investigation, Journal of Clinical Investigation, 10(133), 2023

DOI: 10.1172/jci165019

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@article{Gehin2023,
  author = {Gehin, Charlotte and Lone, Museer A. and Lee, Winston and Capolupo, Laura and Ho, Sylvia and Adeyemi, Adekemi M. and Gerkes, Erica H. and Stegmann, Alexander Pa A. and López-Martín, Estrella and Bermejo-Sánchez, Eva and Martínez-Delgado, Beatriz and Zweier, Christiane and Kraus, Cornelia and Popp, Bernt and Strehlow, Vincent and Gräfe, Daniel and Knerr, Ina and Jones, Eppie R. and Zamuner, Stefano and Abriata, Luciano A. and Kunnathully, Vidya and Moeller, Brandon E. and Vocat, Anthony and Rommelaere, Samuel and Bocquete, Jean-Philippe and Ruchti, Evelyne and Limoni, Greta and Van Campenhoudt, Marine and Bourgeat, Samuel and Henklein, Petra and Gilissen, Christian and van Bon, Bregje W. and Pfundt, Rolph and Willemsen, Marjolein H. and Schieving, Jolanda H. and Leonardi, Emanuela and Soli, Fiorenza and Murgia, Alessandra and Guo, Hui and Zhang, Qiumeng and Xia, Kun and Fagerberg, Christina Ringmann and Beier, Christoph Patrick and Larsen, Martin Jakob and Valenzuela, Irene and Fernández-Álvarez, Paula and Xiong, Shiyi and Śmigiel, Robert and López-González, Vanesa and Armengol, Lluís and Morleo, Manuela and Selicorni, Angelo and Torella, Annalaura and Blyth, Moira and Cooper, Nicola S. and Wilson, Valerie and Oegema, Renske and Herenger, Yvan and Garde, Aurore and Bruel, Ange-Line and Mau-Them, Frederic Tran and Tran Mau-Them, Frederic and Maddocks, Alexis Br R. and Bain, Jennifer M. and Bhat, Musadiq A. and Costain, Gregory and Kannu, Peter and Marwaha, Ashish and Champaigne, Neena L. and Friez, Michael J. and Richardson, Ellen B. and Gowda, Vykuntaraju K. and Srinivasan, Varunvenkat M. and Gupta, Yask and Lim, Tze Y. and Sanna-Cherchi, Simone and Lemaitre, Bruno and Yamaji, Toshiyuki and Hanada, Kentaro and Burke, John E. and Jakšić, Ana Marjia and McCabe, Brian D. and De Los Rios, Paolo and Hornemann, Thorsten and D'Angelo, Giovanni and D’Angelo, Giovanni and Gennarino, Vincenzo A.},
  doi = {10.1172/jci165019},
  journal = {Journal of Clinical Investigation},
  month = {may},
  title = {CERT1 mutations perturb human development by disrupting sphingolipid homeostasis},
  url = {https://doi.org/10.1172/jci165019},
  volume = {133},
  year = {2023}
}

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