| Title |
C-terminal proline deletions in KCNC3 cause delayed channel inactivation and an adult-onset progressive SCA13 with spasticity
|
|---|---|
| Published in |
The Cerebellum, June 2018
|
| DOI | 10.1007/s12311-018-0950-5 |
| Pubmed ID | |
| Authors |
Swati Khare, Kira Galeano, Yalan Zhang, Jerelyn A. Nick, Harry S. Nick, S. H. Subramony, Jacinda Sampson, Leonard K. Kaczmarek, Michael F. Waters |
| Abstract |
Mutations in the potassium channel gene KCNC3 (Kv3.3) cause the autosomal dominant neurological disease, spinocerebellar ataxia 13 (SCA13). In this study, we expand the genotype-phenotype repertoire of SCA13 by describing the novel KCNC3 deletion p.Pro583_Pro585del highlighting the allelic heterogeneity observed in SCA13 patients. We characterize adult-onset, progressive clinical symptoms of two afflicted kindred and introduce the symptom of profound spasticity not previously associated with the SCA13 phenotype. We also present molecular and electrophysiological characterizations of the mutant protein in mammalian cell culture. Mechanistically, the p.Pro583_Pro585del protein showed normal membrane trafficking with an altered electrophysiological profile, including slower inactivation and decreased sensitivity to the inactivation-accelerating effects of the actin depolymerizer latrunculin B. Taken together, our results highlight the clinical importance of the intracellular C-terminal portion of Kv3.3 and its association with ion channel function. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 17 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 17 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 6 | 35% |
| Student > Bachelor | 2 | 12% |
| Researcher | 2 | 12% |
| Student > Master | 2 | 12% |
| Professor | 1 | 6% |
| Other | 1 | 6% |
| Unknown | 3 | 18% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 4 | 24% |
| Agricultural and Biological Sciences | 3 | 18% |
| Neuroscience | 3 | 18% |
| Immunology and Microbiology | 1 | 6% |
| Business, Management and Accounting | 1 | 6% |
| Other | 2 | 12% |
| Unknown | 3 | 18% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 28 June 2018.
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#21,476,880
of 23,975,976 outputs
Outputs from The Cerebellum
#889
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Outputs of similar age
#292,313
of 332,182 outputs
Outputs of similar age from The Cerebellum
#13
of 17 outputs
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