Proteomics

Dataset Information

0

Hydrogen Deuterium Exchange of the CERT1 protein

ABSTRACT: HDX-MS of CERT1 to determine secondary structure characteristics and compare the WT and G243R mutant

INSTRUMENT(S): impact HD

ORGANISM(S): Homo Sapiens (human)

SUBMITTER: John Burke  

LAB HEAD: John Burke

PROVIDER: PXD027356 | Pride | 2023-04-04

REPOSITORIES: Pride

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Publications

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Gehin Charlotte C   Lone Museer A MA   Lee Winston W   Capolupo Laura L   Ho Sylvia S   Adeyemi Adekemi M AM   Gerkes Erica H EH   Stegmann Alexander Pa AP   López-Martín Estrella E   Bermejo-Sánchez Eva E   Martínez-Delgado Beatriz B   Zweier Christiane C   Kraus Cornelia C   Popp Bernt B   Strehlow Vincent V   Gräfe Daniel D   Knerr Ina I   Jones Eppie R ER   Zamuner Stefano S   Abriata Luciano A LA   Kunnathully Vidya V   Moeller Brandon E BE   Vocat Anthony A   Rommelaere Samuel S   Bocquete Jean-Philippe JP   Ruchti Evelyne E   Limoni Greta G   Van Campenhoudt Marine M   Bourgeat Samuel S   Henklein Petra P   Gilissen Christian C   van Bon Bregje W BW   Pfundt Rolph R   Willemsen Marjolein H MH   Schieving Jolanda H JH   Leonardi Emanuela E   Soli Fiorenza F   Murgia Alessandra A   Guo Hui H   Zhang Qiumeng Q   Xia Kun K   Fagerberg Christina R CR   Beier Christoph P CP   Larsen Martin J MJ   Valenzuela Irene I   Fernández-Álvarez Paula P   Xiong Shiyi S   Śmigiel Robert R   López-González Vanesa V   Armengol Lluís L   Morleo Manuela M   Selicorni Angelo A   Torella Annalaura A   Blyth Moira M   Cooper Nicola S NS   Wilson Valerie V   Oegema Renske R   Herenger Yvan Y   Garde Aurore A   Bruel Ange-Line AL   Tran Mau-Them Frederic F   Maddocks Alexis Br AB   Bain Jennifer M JM   Bhat Musadiq A MA   Costain Gregory G   Kannu Peter P   Marwaha Ashish A   Champaigne Neena L NL   Friez Michael J MJ   Richardson Ellen B EB   Gowda Vykuntaraju K VK   Srinivasan Varunvenkat M VM   Gupta Yask Y   Lim Tze Y TY   Sanna-Cherchi Simone S   Lemaitre Bruno B   Yamaji Toshiyuki T   Hanada Kentaro K   Burke John E JE   Jakšić Ana Marjia AM   McCabe Brian D BD   De Los Rios Paolo P   Hornemann Thorsten T   D'Angelo Giovanni G   Gennarino Vincenzo A VA  

The Journal of clinical investigation 20230515 10

Neural differentiation, synaptic transmission, and action potential propagation depend on membrane sphingolipids, whose metabolism is tightly regulated. Mutations in the ceramide transporter CERT (CERT1), which is involved in sphingolipid biosynthesis, are associated with intellectual disability, but the pathogenic mechanism remains obscure. Here, we characterize 31 individuals with de novo missense variants in CERT1. Several variants fall into a previously uncharacterized dimeric helical domain  ...[more]

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