Abnormal ClC-3/TMEM9-mediated endosomal ion transport in CLCN3-associated neurodevelopmental disease

Maya M Polovitskaya, Tinatin Tkemaladze, Lotte Jensen, Sumanta Kar, Rosa Planells-Cases, Emanuele Agolini, Pankaj B Agrawal, Paolo Alfieri, Tahsin Stefan Barakat, Miriam Bertrand, Pamela Bowman, Alice S Brooks, Ange-Line Bruel, Sara Cabet, Karolina Chwialkowska, Giovanna Stefania Colafati, Julian Delanne, Laurence Faivre, Cristina Felton, Ute Grasshoff, Anne-Marie Guerrot, Tobias B Haack, Claudia Haase, Ashley R Helseth, Katrien Janssens, Amjad Khan, Margarete Koch-Hogrebe, Joshua Mandelberg, Elisabeth Mangold, Elene Melikidze, Marije Meuwissen, Ieva Mičule, Brittany Noble, Konrad Platzer, Dmitrijs Rots, Catherin Sarret, Ariane Schmetz, Amelle Shillington, Frédéric Tran-Mau-Them, Dagmar Wieczorek, Gaetan Lesca, Allan Bayat, Thomas J Jentsch

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DOI
10.1038/s44321-026-00486-6
Published
2026-07-22
Container
EMBO Molecular Medicine
Publisher
Springer Science and Business Media LLC
Open access
unknown

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BibTeX

@article{allodium:10.1038/s44321-026-00486-6,
  title = {Abnormal ClC-3/TMEM9-mediated endosomal ion transport in CLCN3-associated neurodevelopmental disease},
  author = {Maya M Polovitskaya and Tinatin Tkemaladze and Lotte Jensen and Sumanta Kar and Rosa Planells-Cases and Emanuele Agolini and Pankaj B Agrawal and Paolo Alfieri and Tahsin Stefan Barakat and Miriam Bertrand and Pamela Bowman and Alice S Brooks and Ange-Line Bruel and Sara Cabet and Karolina Chwialkowska and Giovanna Stefania Colafati and Julian Delanne and Laurence Faivre and Cristina Felton and Ute Grasshoff and Anne-Marie Guerrot and Tobias B Haack and Claudia Haase and Ashley R Helseth and Katrien Janssens and Amjad Khan and Margarete Koch-Hogrebe and Joshua Mandelberg and Elisabeth Mangold and Elene Melikidze and Marije Meuwissen and Ieva Mičule and Brittany Noble and Konrad Platzer and Dmitrijs Rots and Catherin Sarret and Ariane Schmetz and Amelle Shillington and Frédéric Tran-Mau-Them and Dagmar Wieczorek and Gaetan Lesca and Allan Bayat and Thomas J Jentsch},
  year = {2026},
  journal = {EMBO Molecular Medicine},
  doi = {10.1038/s44321-026-00486-6},
  url = {https://doi.org/10.1038/s44321-026-00486-6}
}

RIS

TY  - JOUR
TI  - Abnormal ClC-3/TMEM9-mediated endosomal ion transport in CLCN3-associated neurodevelopmental disease
AU  - Maya M Polovitskaya
AU  - Tinatin Tkemaladze
AU  - Lotte Jensen
AU  - Sumanta Kar
AU  - Rosa Planells-Cases
AU  - Emanuele Agolini
AU  - Pankaj B Agrawal
AU  - Paolo Alfieri
AU  - Tahsin Stefan Barakat
AU  - Miriam Bertrand
AU  - Pamela Bowman
AU  - Alice S Brooks
AU  - Ange-Line Bruel
AU  - Sara Cabet
AU  - Karolina Chwialkowska
AU  - Giovanna Stefania Colafati
AU  - Julian Delanne
AU  - Laurence Faivre
AU  - Cristina Felton
AU  - Ute Grasshoff
AU  - Anne-Marie Guerrot
AU  - Tobias B Haack
AU  - Claudia Haase
AU  - Ashley R Helseth
AU  - Katrien Janssens
AU  - Amjad Khan
AU  - Margarete Koch-Hogrebe
AU  - Joshua Mandelberg
AU  - Elisabeth Mangold
AU  - Elene Melikidze
AU  - Marije Meuwissen
AU  - Ieva Mičule
AU  - Brittany Noble
AU  - Konrad Platzer
AU  - Dmitrijs Rots
AU  - Catherin Sarret
AU  - Ariane Schmetz
AU  - Amelle Shillington
AU  - Frédéric Tran-Mau-Them
AU  - Dagmar Wieczorek
AU  - Gaetan Lesca
AU  - Allan Bayat
AU  - Thomas J Jentsch
PY  - 2026
JO  - EMBO Molecular Medicine
DO  - 10.1038/s44321-026-00486-6
UR  - https://doi.org/10.1038/s44321-026-00486-6
ER  - 

APA

Polovitskaya, M. M., Tkemaladze, T., Jensen, L., Kar, S., Planells-Cases, R., Agolini, E., Agrawal, P. B., Alfieri, P., Barakat, T. S., Bertrand, M., Bowman, P., Brooks, A. S., Bruel, A., Cabet, S., Chwialkowska, K., Colafati, G. S., Delanne, J., Faivre, L., Felton, C., Grasshoff, U., Guerrot, A., Haack, T. B., Haase, C., Helseth, A. R., Janssens, K., Khan, A., Koch-Hogrebe, M., Mandelberg, J., Mangold, E., Melikidze, E., Meuwissen, M., Mičule, I., Noble, B., Platzer, K., Rots, D., Sarret, C., Schmetz, A., Shillington, A., Tran-Mau-Them, F., Wieczorek, D., Lesca, G., Bayat, A., & Jentsch, T. J. (2026). Abnormal ClC-3/TMEM9-mediated endosomal ion transport in CLCN3-associated neurodevelopmental disease. EMBO Molecular Medicine. https://doi.org/10.1038/s44321-026-00486-6

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