Raffaella De Pace

10PUBLICATIONS
81CO-AUTHORS
Medical infection agents (incl. prions)Molecular evolutionCellular nervous systemGenome structure and regulationDevelopmental genetics (incl. sex determination)
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Publications (10)

|May 19, 2025
Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction.

Niccolò E Mencacci, Georgia Minakaki, Reza Maroofian

|Apr 10, 2024
Messenger RNA transport on lysosomal vesicles maintains axonal mitochondrial homeostasis and prevents axonal degeneration.

Raffaella De Pace, Saikat Ghosh, Veronica H Ryan

|Dec 21, 2023
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics.

Raffaella De Pace, Reza Maroofian, Adeline Paimboeuf

|Jan 27, 2023
LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size.

Jenny Serra-Vinardell, Maxwell B Sandler, Raffaella De Pace

|Mar 26, 2021
Neuronal enhancers are hotspots for DNA single-strand break repair.

Wei Wu, Sarah E Kargbo-Hill, William J Nathan

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