OSCR

A <i>KCNC1</i> variant linked to Rett syndrome disrupts ER to Golgi trafficking of Kv3.1 channel.

Overview

Authors: Diego Maureira1,2, Carla Rubilar3,4, Joaquín López1,2, Paola Santander3,4, Hans Moldenhauer1,2,5, Ian Silva1,2,6, Pablo Cruz1,2, Denise Riquelme7, Javiera Baeza1,2,8, Wendy González2,8, Patricio Orio9,10, Evrim Servili1,2, Mónica Troncoso3,4, Elías Leiva-Salcedo7, Oscar Cerda1,2
ORCID iDs: Diego Maureira, Joaquín López, Hans Moldenhauer, Ian Silva, Pablo Cruz, Denise Riquelme, Wendy González, Evrim Servili, Mónica Troncoso, Elías Leiva-Salcedo, Oscar Cerda
  1. Núcleo Interdisciplinario de Biología y Genética, Instituto de Ciencias Biomédicas, Facultad de Medicina, Universidad de Chile, Santiago 8380453, Chile
  2. Millennium Nucleus of Ion Channel-Associated Diseases, Santiago 8380453, Chile
  3. Servicio de Neuropsiquiatría Infantil, Hospital Clínico San Borja Arriarán, Santiago 8360160, Chile
  4. Departamento de Pediatría, Campus Centro, Facultad de Medicina, Universidad de Chile, Santiago 8360160, Chile
  5. Escuela de Tecnología Médica, Universidad Santo Tomás, Santiago 8370003, Chile
  6. Centro de Oncología de Precisión, Universidad Mayor, Santiago 8580745, Chile
  7. Departamento de Biología, Facultad de Química y Biología, Universidad de Santiago de Chile, Santiago 9170022, Chile
  8. Centro de Bioinformática, Simulación y Modelado, Facultad de Ingeniería, Universidad de Talca, Talca 3460000, Chile
  9. Facultad de Ciencias, Universidad de Valparaíso, Valparaíso 2360102, Chile
  10. Centro Interdisciplinario de Neurociencia de Valparaíso, Valparaíso 2381850, Chile
Institutions: Millennium Nucleus of Ion Channel Associated Diseases (Chile); University of Chile (Chile); Hospital San Borja Arriarán (Chile); Universidad Santo Tomás (Colombia); Universidad Santo Tomás (Chile); University of Santo Tomas (Philippines); Universidad Mayor (Chile); Universidad de Santiago de Chile (Chile); University of Talca (Chile); Valparaiso University (United States); University of Valparaíso (Chile)
Journal: Proceedings of the National Academy of Sciences of the United States of America, volume 123, issue 11, article e2424514123
Dates: received 2 December 2024; accepted 27 January 2026; published online 12 March 2026; in print 17 March 2026
Type: Research article · Language: English
License: CC BY-NC-ND
Identifiers: DOI 10.1073/pnas.2424514123 · PMID 41818146 · PMCID PMC12994180 · OpenAlex W7135047621
Open access: hybrid, a free copy (OpenAlex)
Status: data only
Categories: human (organism), mouse (organism), other condition (population), cellular / molecular (subfield)
Keywords: KCNC1, Rett syndrome, channelopathy, ion channel trafficking
MeSH: Endoplasmic Reticulum*, Golgi Apparatus*, Rett Syndrome*, Shaw Potassium Channels*, Animals, Female, Humans, Mice, Neurons, Protein Transport (* major topic)
Topic: Ion channel regulation and function (Molecular Biology, Biochemistry, Genetics and Molecular Biology), according to OpenAlex
Funding: ANID | Fondo Nacional de Desarrollo Científico y Tecnológico (FONDECYT) (1220680, 1240633); Millennium Nucleus of Ion Channel-Associated Diseases (MiNICAD) (NCN19_168)
Citations: not cited yet (Europe PMC); 76 references in the paper

Abstract

The abstract is not reproduced here: the paper's license (CC BY-NC-ND) does not allow it. Read it in the paper, at the publisher or on Europe PMC.

Code

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The paper's code and data availability statement is in the Data section.

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Data

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Code and data availability statement

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Read it in the paper: doi.org/10.1073/pnas.2424514123.

Versions

The history of this record: each version stored by the harvester or made by a correction of its authors or of the maintainers of its code, and what changed in its facts. The texts of the paper (its abstract, its availability statements) are not part of it; versions that changed only those are not listed.

Version 1, 30 September 2026: the first record

Recorded: type, language, journal, volume, issue, pages, dates, 15 authors, 4 keywords, 10 MeSH terms, 2 funders, 76 references.

Cite

This paper

Maureira, D., Rubilar, C., López, J., Santander, P., Moldenhauer, H., Silva, I., Cruz, P., Riquelme, D., Baeza, J., González, W., Orio, P., Servili, E., Troncoso, M., Leiva-Salcedo, E., & Cerda, O. (2026). A <i>KCNC1</i> variant linked to Rett syndrome disrupts ER to Golgi trafficking of Kv3.1 channel. Proceedings of the National Academy of Sciences of the United States of America, 123(11), e2424514123. https://doi.org/10.1073/pnas.2424514123

BibTeX

@article{maureira2026lt,
author = {Maureira, Diego and Rubilar, Carla and López, Joaquín and Santander, Paola and Moldenhauer, Hans and Silva, Ian and Cruz, Pablo and Riquelme, Denise and Baeza, Javiera and González, Wendy and Orio, Patricio and Servili, Evrim and Troncoso, Mónica and Leiva-Salcedo, Elías and Cerda, Oscar},
title = {{A \<i\>KCNC1\</i\> variant linked to Rett syndrome disrupts ER to Golgi trafficking of Kv3.1 channel}},
journal = {Proceedings of the National Academy of Sciences of the United States of America},
year = {2026},
month = mar,
volume = {123},
number = {11},
pages = {e2424514123},
publisher = {National Academy of Sciences},
issn = {0027-8424},
doi = {10.1073/pnas.2424514123},
url = {https://doi.org/10.1073/pnas.2424514123},
pmid = {41818146},
pmcid = {PMC12994180}
}

RIS

TY - JOUR
AU - Maureira, Diego
AU - Rubilar, Carla
AU - López, Joaquín
AU - Santander, Paola
AU - Moldenhauer, Hans
AU - Silva, Ian
AU - Cruz, Pablo
AU - Riquelme, Denise
AU - Baeza, Javiera
AU - González, Wendy
AU - Orio, Patricio
AU - Servili, Evrim
AU - Troncoso, Mónica
AU - Leiva-Salcedo, Elías
AU - Cerda, Oscar
TI - A <i>KCNC1</i> variant linked to Rett syndrome disrupts ER to Golgi trafficking of Kv3.1 channel
T2 - Proceedings of the National Academy of Sciences of the United States of America
J2 - Proc Natl Acad Sci U S A
PY - 2026
DA - 2026/03/12
VL - 123
IS - 11
SP - e2424514123
SN - 0027-8424
PB - National Academy of Sciences
DO - 10.1073/pnas.2424514123
UR - https://doi.org/10.1073/pnas.2424514123
LA - en
ER -

CSL-JSON

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"container-title": "Proceedings of the National Academy of Sciences of the United States of America",
"author": [
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"container-title-short": "Proc Natl Acad Sci U S A",
"volume": "123",
"issue": "11",
"page": "e2424514123",
"DOI": "10.1073/pnas.2424514123",
"PMID": "41818146",
"PMCID": "PMC12994180",
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"language": "en",
"issued": {
"date-parts": [
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