Author

Amélie Barthelemy

Centre National de la Recherche ScientifiqueORCID 0009-0008-5113-5876Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Neuroscience· 4 Cell Biology· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 5 Assay:bulk RNA-seq· 3 Research Focus:cell type annotation· 3 Research Focus:differential expression· 3 Research Focus:drug response / drug discovery· 3 Organism:mouse· 3 Organism:human· 2 Research Focus:cell signaling & trafficking· 1

Frequent Co-Authors

Frank W. PfriegeriD· 5 shared Valentina PallottiniiD· 4 shared Martina ParenteiD· 3 shared Claudia ToniniiD· 2 shared Sara CaputoiD· 2 shared Sophie ReibeliD· 2 shared Valérie DemaisiD· 2 shared Alessandra SacchiiD· 1 shared

Activity by Year

2021-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 28 mutual co-author links

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5 shared papersNeuroscience

Frank W. PfriegerORCID

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5 papers

Recent·Most cited

NeurosciencebioRxivPreprintSep 3, 2026

Pharmacological BET Protein Inhibition Reverts Niemann-Pick Type C Disease-Associated Changes in Human iPSC-Derived Cortical Neurons

Federica Benigni, Martina Parente, Chiara Marioli…·Claudia Compagnucci

This study uses iPSC-derived neurons from NPC1 patients to show that BET inhibition with JQ1 improves neuronal viability and reduces cholesterol accumulation.

DOI 10.64898/2026.08.31.747771

humanexperimental assay

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NeurosciencebioRxivPreprintJun 29, 2026

Effects of bromodomain protein inhibition in a mouse model of Niemann-Pick type C disease

Martina Parente, Amélie Barthelemy, Sara Caputo…·Valentina Pallottini

This study investigates the effects of bromodomain protein inhibition in a mouse model of Niemann-Pick type C disease, finding sex-dependent therapeutic benefits in male mice.

DOI 10.64898/2026.06.24.734200

mousebulk RNA-seq

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Cell BiologyInternational Journal of Molecular SciencesPeer-reviewedJun 16, 2025

Bromodomain proteins as new drug target for an inborn lysosomal defect

Martina Parente, Amélie Barthelemy, Claudia Tonini…·Valentina Pallottini

This study investigates bromodomain proteins as a therapeutic target for Niemann-Pick type C disease, showing that JQ1 improves NPC1 levels and reduces cholesterol accumulation in patient-derived fibroblasts.

3 citations

humanbulk RNA-seq

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NeuroscienceJournal of Extracellular VesiclesPeer-reviewedAug 31, 2022

Release of VAMP5-positive extracellular vesicles by retinal Muller glia in vivo

Valérie Demais, Anne Pohl, Kirsten A. Wunderlich…·Antje Grosche

The paper identifies VAMP5 as a SNARE component in extracellular vesicles released by retinal Muller glia and shows differences in their secretomes compared to neurons.

29 citations

mouseexperimental assay

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NeuroscienceNeurobiology of DiseasePeer-reviewedAug 5, 2021

Glial contribution to cyclodextrin-mediated reversal of cholesterol accumulation in murine NPC1-deficient neurons in vivo

Amélie Barthelemy, Valérie Demais, Izabela‐Cristina Stancu…·Frank W. Pfrieger

This study investigates how cyclodextrin reverses cholesterol accumulation in NPC1-deficient neurons by involving glial cells in lipid removal.

9 citations

mousebulk RNA-seq

𝕏 PostBluesky