Ganetzky, Rebecca D.

A homozygous splice variant in ATP5PO , disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families

Ganapathi, M., Friocourt, G., Gueguen, N., Friederich, M. W., Le Gac, G., Okur, V., Loaëc, N., Ludwig, T., Ka, C., Tanji, K., et al. (2022) · Journal of Inherited Metabolic Disease

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

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Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Küry, S., Stanton, J. E., van Woerden, G., Hsieh, T.-C., Rosenfelt, C., Scott-Boyer, M. P., Most, V., Wang, T., Papendorf, J. J., de Konink, C., et al. (2024) · medRxiv

Genetics and Neurodevelopmental DisordersUbiquitin and proteasome pathways

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Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Küry, S., Stanton, J. E., van Woerden, G. M., Bosc-Rosati, A., Hsieh, T.-C., Bray, L., Oloudé, M., Rosenfelt, C., Scott-Boyer, M. P., Most, V., et al. (2025) · Nature Communications

Ubiquitin and proteasome pathwaysGenetics and Neurodevelopmental Disorders

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