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Profil bibliographique

Jean-Philippe Bocquete

Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.

3Publications signalées
44Citations signalées
0Affiliations récentes

Les domaines associés

Sphingolipid Metabolism and SignalingLysosomal Storage Disorders ResearchEndoplasmic Reticulum Stress and DiseaseHereditary Neurological DisordersCaveolin-1 and cellular processes

Les publications récentes

Accès ouvert 2025 erratum OpenAlex

Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

Charlotte Gehin, Museer A. Lone, Winston Lee, Laura Capolupo et autres

The authors recently became aware of inadvertently omitted text and a reference citation on page 8. The correct text is provided below. Circular dichroism confirmed that purified CERT 151–309, hereafter referred to as the CERT central core domain (CCD) in reference to …

0 citations Journal of Clinical Investigation
Accès ouvert 2023 article OpenAlex

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

Charlotte Gehin, Museer A. Lone, Winston Lee, Laura Capolupo et autres

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, …

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44 citations Journal of Clinical Investigation

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