Evidence map›Paper›PMID 25152487›Full record

ArticleNeurobiology of disease2014

KCNC3(R420H), a K(+) channel mutation causative in spinocerebellar ataxia 13 displays aberrant intracellular trafficking.

Carolina Gallego-Iradi, Justin S Bickford, Swati Khare, Alexis Hall, Jerelyn A Nick, Donya Salmasinia, Kolja Wawrowsky, Serguei Bannykh, Duong P Huynh, Diego E Rincon-Limas and 4 more

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurobiology of disease, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed
1.1field-weighted citation impact, top 28% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

20 citing papers in PubMed, 24 citations in OpenAlex.

  1. AProceedings of the National Academy of Sciences of the United States of America · 2026
    Article
  2. A novel prognostic and immune-related biomarkerTranslational cancer research · 2025
    Article
  3. Review
  4. Article
  5. Article
  6. A missense mutation inProceedings of the National Academy of Sciences of the United States of America · 2022
    Article
  7. Article
  8. Article
  9. Review
  10. Article
  11. Modeling Neurodegenerative Spinocerebellar Ataxia Type 13 in Zebrafish Using a Purkinje Neuron Specific Tunable Coexpression System.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2019
    Article
  12. Article
  13. Article
  14. Review
  15. Review
  16. Article
  17. Review
  18. Article
  19. Review
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors at 2 institutions in 1 country.

Carolina Gallego-IradiDepartment of Neurology, University of Florida, Gainesville, FL 32611, USA; McKnight Brain Institute, College of Medicine, University of Florida, Gainesville, FL 32611, USA.
Justin S BickfordDepartment of Neuroscience College of Medicine, University of Florida, Gainesville, FL 32611, USA; McKnight Brain Institute, College of Medicine, University of Florida, Gainesville, FL 32611, USA.
Swati KhareDepartment of Neurology, University of Florida, Gainesville, FL 32611, USA; McKnight Brain Institute, College of Medicine, University of Florida, Gainesville, FL 32611, USA.
Alexis HallDepartment of Neurology, University of Florida, Gainesville, FL 32611, USA; McKnight Brain Institute, College of Medicine, University of Florida, Gainesville, FL 32611, USA.
Jerelyn A NickDepartment of Neurology, University of Florida, Gainesville, FL 32611, USA; McKnight Brain Institute, College of Medicine, University of Florida, Gainesville, FL 32611, USA.
Donya SalmasiniaDepartment of Neurology, University of Florida, Gainesville, FL 32611, USA; McKnight Brain Institute, College of Medicine, University of Florida, Gainesville, FL 32611, USA.
Kolja WawrowskyDepartment of Endocrinology, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
Serguei BannykhDepartment of Pathology, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
Duong P HuynhDepartment of Neurology, University of Utah School of Medicine, Salt Lake City, UT 84123, USA.
Diego E Rincon-LimasDepartment of Neurology, University of Florida, Gainesville, FL 32611, USA; McKnight Brain Institute, College of Medicine, University of Florida, Gainesville, FL 32611, USA.
Stefan M PulstDepartment of Neurology, University of Utah School of Medicine, Salt Lake City, UT 84123, USA.
Harry S NickDepartment of Neuroscience College of Medicine, University of Florida, Gainesville, FL 32611, USA; McKnight Brain Institute, College of Medicine, University of Florida, Gainesville, FL 32611, USA.
Pedro Fernandez-FunezDepartment of Neurology, University of Florida, Gainesville, FL 32611, USA; Department of Neuroscience College of Medicine, University of Florida, Gainesville, FL 32611, USA; McKnight Brain Institute, College of Medicine, University of Florida, Gainesville, FL 32611, USA.
Michael F WatersDepartment of Neurology, University of Florida, Gainesville, FL 32611, USA; Department of Neuroscience College of Medicine, University of Florida, Gainesville, FL 32611, USA; McKnight Brain Institute, College of Medicine, University of Florida, Gainesville, FL 32611, USA. Electronic address: mwaters@neurology.ufl.edu.
University of Florida · USCedars-Sinai Medical Center · US

Funding

Identification of the gene causing spinocerebellar ataxia in a Filipino familyK23NS054715 · NINDS · UNIVERSITY OF FLORIDA · PI WATERS, MICHAEL FARRIS · 2008 to 2012
$851k
NINDS NIH HHS K23 NS054715
6 · The paper itself

Abstract

Spinocerebellar ataxia 13 (SCA13) is an autosomal dominant disease resulting from mutations in KCNC3 (Kv3.3), a voltage-gated potassium channel. The KCNC3(R420H) mutation was first identified as causative for SCA13 in a four-generation Filipino kindred with over 20 affected individuals. Electrophysiological analyses in oocytes previously showed that this mutation did not lead to a functional channel and displayed a dominant negative phenotype. In an effort to identify the molecular basis of this allelic form of SCA13, we first determined that human KCNC3(WT) and KCNC3(R420H) display disparate post-translational modifications, and the mutant protein has reduced complex glycan adducts. Immunohistochemical analyses demonstrated that KCNC3(R420H) was not properly trafficking to the plasma membrane and surface biotinylation demonstrated that KCNC3(R420H) exhibited only 24% as much surface expression as KCNC3(WT). KCNC3(R420H) trafficked through the ER but was retained in the Golgi. KCNC3(R420H) expression results in altered Golgi and cellular morphology. Electron microscopy of KCNC3(R420H) localization further supports retention in the Golgi. These results are specific to the KCNC3(R420H) allele and provide new insight into the molecular basis of disease manifestation in SCA13.

Indexed as

AnimalsAnimals, Genetically ModifiedArginineBiotinylationCadherinsChlorocebus aethiopsCOS CellsCytoplasmDrosophilaDrosophila ProteinsEndoplasmic ReticulumFemaleHistidineHumansIntracellular FluidMaleArginineCadherinsDrosophila ProteinsHistidineKCNC3 protein, humanShaw Potassium ChannelsDominant inheritanceGolgiKCNC3Protein traffickingSCA13Spinocerebellar ataxiaVoltage-gated potassium channel

Identifiers

PMID25152487
PMCPMC4181561
OpenAlexW2052422567

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.