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Cited by 434

The DOI matches its Crossref record; 45 of the 45 references it cites were found in a registry or an index.

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

Open access
Lesage, Suzanne, Drouet, Valérie, Majounie, Elisa, Deramecourt, Vincent, Jacoupy, Maxime, Nicolas, Aude, Cormier-Dequaire, Florence, Hassoun, Sidi Mohamed, Pujol, Claire, Ciura, Sorana, Erpapazoglou, Zoi, Usenko, Tatiana, Maurage, Claude-Alain, Sahbatou, Mourad, Liebau, Stefan, Ding, Jinhui, Bilgic, Basar, Emre, Murat, Erginel-Unaltuna, Nihan, Guven, Gamze, Tison, François, Tranchant, Christine, Vidailhet, Marie, Corvol, Jean-Christophe, Krack, Paul, Leutenegger, Anne-Louise, Nalls, Michael A., Hernandez, Dena G., Heutink, Peter, Gibbs, J. Raphael, Hardy, John, Wood, Nicholas W., Gasser, Thomas, Durr, Alexandra, Deleuze, Jean-François, Tazir, Meriem, Destée, Alain, Lohmann, Ebba, Kabashi, Edor, Singleton, Andrew, Corti, Olga, Brice, Alexis, Lesage, Suzanne, Tison, François, Vidailhet, Marie, Corvol, Jean-Christophe, Agid, Yves, Anheim, Mathieu, Bonnet, Anne-Marie, Borg, Michel, Broussolle, Emmanuel, Damier, Philippe, Destée, Alain, Dürr, Alexandra, Durif, Franck, Krack, Paul, Klebe, Stephan, Lohmann, Ebba, Martinez, Maria, Pollak, Pierre, Rascol, Olivier, Tranchant, Christine, Vérin, Marc, Viallet, François, Brice, Alexis, Lesage, Suzanne, Majounie, Elisa, Tison, François, Vidailhet, Marie, Corvol, Jean Christophe, Nalls, Michael A., Hernandez, Dena G., Gibbs, J. Raphael, Dürr, Alexandra, Arepalli, Sampath, Barker, Roger A., Ben-Shlomo, Yoav, Berg, Daniela, Bettella, Francesco, Bhatia, Kailash, de Bie, Rob M.A., Biffi, Alessandro, Bloem, Bastiaan R., Bochdanovits, Zoltan, Bonin, Michael, Lesage, Suzanne, Tison, François, Vidailhet, Marie, Corvol, Jean-Christophe, Agid, Yves, Anheim, Mathieu, Bonnet, Anne-Marie, Borg, Michel, Broussolle, Emmanuel, Damier, Philippe, Destée, Alain, Dürr, Alexandra, Durif, Franck, Krack, Paul, Klebe, Stephan, Lohmann, Ebba, Martinez, Maria, Pollak, Pierre, Rascol, Olivier, Tranchant, Christine, Vérin, Marc, Bras, Jose M., Brockmann, Kathrin, Brooks, Janet, Burn, David J., Charlesworth, Gavin, Chen, Honglei, Chinnery, Patrick F., Chong, Sean, Clarke, Carl E., Cookson, Mark R., Counsell, Carl, Damier, Philippe, Dartigues, Jean-François, Deloukas, Panos, Deuschl, Günther, Dexter, David T., van Dijk, Karin D., Dillman, Allissa, Dong, Jing, Durif, Frank, Edkins, Sarah, Escott-Price, Valentina, Evans, Jonathan R., Foltynie, Thomas, Gao, Jianjun, Gardner, Michelle, Goate, Alison, Gray, Emma, Guerreiro, Rita, Harris, Clare, van Hilten, Jacobus J., Hofman, Albert, Hollenbeck, Albert, Holmans, Peter, Holton, Janice, Hu, Michèle, Huang, Xuemei, Huber, Heiko, Hudson, Gavin, Hunt, Sarah E., Huttenlocher, Johanna, Illig, Thomas, Jónsson, Pálmi V., Kilarski, Laura L., Jansen, Iris E., Lambert, Jean-Charles, Langford, Cordelia, Lees, Andrew, Lichtner, Peter, Limousin, Patricia, Lopez, Grisel, Lorenz, Delia, Lubbe, Steven, Lungu, Codrin, Martinez, María, Mätzler, Walter, McNeill, Alisdair, Moorby, Catriona, Moore, Matthew, Morrison, Karen E., Mudanohwo, Ese, O’Sullivan, Sean S., Owen, Michael J., Pearson, Justin, Perlmutter, Joel S., Pétursson, Hjörvar, Plagnol, Vincent, Pollak, Pierre, Post, Bart, Potter, Simon, Ravina, Bernard, Revesz, Tamas, Riess, Olaf, Rivadeneira, Fernando, Rizzu, Patrizia, Ryten, Mina, Saad, Mohamad, Simón-Sánchez, Javier, Sawcer, Stephen, Schapira, Anthony, Scheffer, Hans, Schulte, Claudia, Sharma, Manu, Shaw, Karen, Sheerin, Una-Marie, Shoulson, Ira, Shulman, Joshua, Sidransky, Ellen, Spencer, Chris C.A., Stefánsson, Hreinn, Stefánsson, Kári, Stockton, Joanna D., Strange, Amy, Talbot, Kevin, Tanner, Carlie M., Tashakkori-Ghanbaria, Avazeh, Trabzuni, Daniah, Traynor, Bryan J., Uitterlinden, André G., Velseboer, Daan, Walker, Robert, van de Warrenburg, Bart, Wickremaratchi, Mirdhu, Williams-Gray, Caroline H., Winder-Rhodes, Sophie, Wurster, Isabel, Williams, Nigel, Morris, Huw R., Heutink, Peter, Hardy, John, Wood, Nicholas W., Gasser, Thomas, Singleton, Andrew B., Brice, Alexis·2016·The American Journal of Human Genetics
DOI 10.1016/j.ajhg.2016.01.014
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Abstract

Autosomal-recessive early-onset parkinsonism is clinically and genetically heterogeneous. The genetic causes of approximately 50% of autosomal-recessive early-onset forms of Parkinson disease (PD) remain to be elucidated. Homozygozity mapping and exome sequencing in 62 isolated individuals with early-onset parkinsonism and confirmed consanguinity followed by data mining in the exomes of 1,348 PD-affected individuals identified, in three isolated subjects, homozygous or compound heterozygous truncating mutations in vacuolar protein sorting 13C (VPS13C). VPS13C mutations are associated with a distinct form of early-onset parkinsonism characterized by rapid and severe disease progression and early cognitive decline; the pathological features were striking and reminiscent of diffuse Lewy body disease. In cell models, VPS13C partly localized to the outer membrane of mitochondria. Silencing of VPS13C was associated with lower mitochondrial membrane potential, mitochondrial fragmentation, increased respiration rates, exacerbated PINK1/Parkin-dependent mitophagy, and transcriptional upregulation of PARK2 in response to mitochondrial damage. This work suggests that loss of function of VPS13C is a cause of autosomal-recessive early-onset parkinsonism with a distinctive phenotype of rapid and severe progression.

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Authors
Lesage, S., Drouet, V., Majounie, E., Deramecourt, V., Jacoupy, M., Nicolas, A., Cormier-Dequaire, F., Hassoun, S. M., Pujol, C., Ciura, S., Erpapazoglou, Z., Usenko, T., Maurage, C.-A., Sahbatou, M., Liebau, S., Ding, J., Bilgic, B., Emre, M., Erginel-Unaltuna, N., Guven, G., Tison, F., Tranchant, C., Vidailhet, M., Corvol, J.-C., Krack, P., Leutenegger, A.-L., Nalls, M. A., Hernandez, D. G., Heutink, P., Gibbs, J. R., Hardy, J., Wood, N. W., Gasser, T., Durr, A., Deleuze, J.-F., Tazir, M., Destée, A., Lohmann, E., Kabashi, E., Singleton, A., Corti, O., Brice, A., Lesage, S., Tison, F., Vidailhet, M., Corvol, J.-C., Agid, Y., Anheim, M., Bonnet, A.-M., Borg, M., Broussolle, E., Damier, P., Destée, A., Dürr, A., Durif, F., Krack, P., Klebe, S., Lohmann, E., Martinez, M., Pollak, P., Rascol, O., Tranchant, C., Vérin, M., Viallet, F., Brice, A., Lesage, S., Majounie, E., Tison, F., Vidailhet, M., Corvol, J. C., Nalls, M. A., Hernandez, D. G., Gibbs, J. R., Dürr, A., Arepalli, S., Barker, R. A., Ben-Shlomo, Y., Berg, D., Bettella, F., Bhatia, K., de Bie, R. M. A., Biffi, A., Bloem, B. R., Bochdanovits, Z., Bonin, M., Lesage, S., Tison, F., Vidailhet, M., Corvol, J.-C., Agid, Y., Anheim, M., Bonnet, A.-M., Borg, M., Broussolle, E., Damier, P., Destée, A., Dürr, A., Durif, F., Krack, P., Klebe, S., Lohmann, E., Martinez, M., Pollak, P., Rascol, O., Tranchant, C., Vérin, M., Bras, J. M., Brockmann, K., Brooks, J., Burn, D. J., Charlesworth, G., Chen, H., Chinnery, P. F., Chong, S., Clarke, C. E., Cookson, M. R., Counsell, C., Damier, P., Dartigues, J.-F., Deloukas, P., Deuschl, G., Dexter, D. T., van Dijk, K. D., Dillman, A., Dong, J., Durif, F., Edkins, S., Escott-Price, V., Evans, J. R., Foltynie, T., Gao, J., Gardner, M., Goate, A., Gray, E., Guerreiro, R., Harris, C., van Hilten, J. J., Hofman, A., Hollenbeck, A., Holmans, P., Holton, J., Hu, M., Huang, X., Huber, H., Hudson, G., Hunt, S. E., Huttenlocher, J., Illig, T., Jónsson, P. V., Kilarski, L. L., Jansen, I. E., Lambert, J.-C., Langford, C., Lees, A., Lichtner, P., Limousin, P., Lopez, G., Lorenz, D., Lubbe, S., Lungu, C., Martinez, M., Mätzler, W., McNeill, A., Moorby, C., Moore, M., Morrison, K. E., Mudanohwo, E., O’Sullivan, S. S., Owen, M. J., Pearson, J., Perlmutter, J. S., Pétursson, H., Plagnol, V., Pollak, P., Post, B., Potter, S., Ravina, B., Revesz, T., Riess, O., Rivadeneira, F., Rizzu, P., Ryten, M., Saad, M., Simón-Sánchez, J., Sawcer, S., Schapira, A., Scheffer, H., Schulte, C., Sharma, M., Shaw, K., Sheerin, U.-M., Shoulson, I., Shulman, J., Sidransky, E., Spencer, C. C. A., Stefánsson, H., Stefánsson, K., Stockton, J. D., Strange, A., Talbot, K., Tanner, C. M., Tashakkori-Ghanbaria, A., Trabzuni, D., Traynor, B. J., Uitterlinden, A. G., Velseboer, D., Walker, R., van de Warrenburg, B., Wickremaratchi, M., Williams-Gray, C. H., Winder-Rhodes, S., Wurster, I., Williams, N., Morris, H. R., Heutink, P., Hardy, J., Wood, N. W., Gasser, T., Singleton, A. B., & Brice, A.
Venue
The American Journal of Human Genetics
Publisher
Elsevier BV
Published
2016-03
Volume
98
Issue
3
Pages
500-513
ISSN
0002-9297 (ISSN-L)
DOI
10.1016/j.ajhg.2016.01.014
OpenAlex
W2292412857
Cited by
434
References
45
FWCI
25.96
Type
journal article
Language
en
Open access
bronze

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CoChat. (2026). Citation check: Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy. https://app.cochat.ai/papers/10.1016/j.ajhg.2016.01.014
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Lesage, S., Drouet, V., Majounie, E., Deramecourt, V., Jacoupy, M., Nicolas, A., Cormier-Dequaire, F., Hassoun, S. M., Pujol, C., Ciura, S., Erpapazoglou, Z., Usenko, T., Maurage, C.-A., Sahbatou, M., Liebau, S., Ding, J., Bilgic, B., Emre, M., Erginel-Unaltuna, N., . . . Brice, A. (2016). Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2016.01.014

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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.

Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

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