CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

Gehin, C., Lone, M. A., Lee, W., Capolupo, L., Ho, S., Adeyemi, A. M., Gerkes, E. H., Stegmann, A. P. A., López-Martín, E., Bermejo-Sánchez, E., Martínez-Delgado, B., Zweier, C., Kraus, C., Popp, B., Strehlow, V., Gräfe, D., Knerr, I., Jones, E. R., Zamuner, S., … Gennarino, V. A. (2023). CERT1 mutations perturb human development by disrupting sphingolipid homeostasis. Journal of Clinical Investigation, 133(10). https://doi.org/10.1172/jci165019
Authors:
Charlotte Gehin
Museer A. Lone
Winston Lee
Laura Capolupo
Ho S
Adekemi M Adeyemi
Erica H. Gerkes
Alexander P.A. Stegmann
Estrella López‐Martín
Eva Bermejo
Beatriz Martínez‐Delgado
Christiane Zweier
Cornelia Kraus
Bernt Popp
Vincent Strehlow
Daniel Gräfe
Ina Knerr
Eppie R. Jones
Stefano Zamuner
Luciano A. Abriata
Vidya Kunnathully
Brandon E Moeller
Anthony Vocat
Samuel Rommelaere
Jean-Philippe Bocquete
Evelyne Ruchti
Greta Limoni
Marine Van Campenhoudt
Samuel Bourgeat
Petra Henklein
Christian Gilissen
Bregje W.M. van Bon
Rolph Pfundt
Marjolein H. Willemsen
Jolanda Schieving
Emanuela Leonardi
Fiorenza Soli
Alessandra Murgia
Hui Guo
Qiumeng Zhang
Kun Xia
Christina Fagerberg
Christoph P. Beier
Martin J. Larsen
Irene Valenzuela
Paula Fernández‐Álvarez
Shiyi Xiong
Robert Śmigiel
Vanesa López‐González
Lluís Armengol
Manuela Morleo
Margherita Silengo
Annalaura Torella
Moira Blyth
Nicola Cooper
Valerie Wilson
Renske Oegema
Yvan Herenger
Aurore Garde
Ange‐Line Bruel
Frédéric Tran Mau‐Them
Alexis Br Maddocks
Jennifer Bain
Musadiq A. Bhat
Gregory Costain
Pekka Kannus
Ashish Marwaha
Neena L. Champaigne
Michael J. Friez
Ellen B Richardson
Vykuntaraju K. Gowda
Varunvenkat M. Srinivasan
Yask Gupta
Tze Y. Lim
Simone Sanna‐Cherchi
Bruno Lemaître
Toshiyuki Yamaji
Kentaro Hanada
John E. Burke
Ana Marija Jakšić
Brian D. McCabe
Paolo De Los Rios
Thorsten Hornemann
Giovanni D’Angelo
Vincenzo A. Gennarino
Affiliated Authors:
Winston Lee
Alexis Br Maddocks
Jennifer Bain
Yask Gupta
Tze Y. Lim
Simone Sanna‐Cherchi
Vincenzo A. Gennarino
Columbia Affiliation:
Subjects:
Ceramides (MeSH)
Sphingolipids (MeSH)
Sphingolipid Signalling and Metabolism in Health and Disease (OpenAlex Topic)
Endoplasmic Reticulum Stress and Unfolded Protein Response (OpenAlex Topic)
Lysosomal Storage Disorders in Human Health and Disease (OpenAlex Topic)
Author Keywords:
cell biology
genetics
lipid rafts
neurodevelopment
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Publication Type:
Article
Unique ID:
10.1172/jci165019
PMID:
36976648
DOI:
10.1172/jci165019
Journal:
Journal of Clinical Investigation
Publication Date:
Data Source:
OpenAlex
Source Link:
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Record Created: