دورية أكاديمية
| العنوان: | [Untitled] |
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| المؤلفون: | Snyder, Allison, Ryan, Veronica H, Hawrot, James, Lawton, Sydney, Ramos, Daniel M, Qi, Y Andy, Johnson, Kory R, Reed, Xylena, Johnson, Nicholas L, Kollasch, Aaron W, Duffy, Megan F, VandeVrede, Lawren, Cochran, J Nicholas, Miller, Bruce L, Toro, Camilo, Bielekova, Bibiana, Marks, Debora S, Yokoyama, Jennifer S, Kwan, Justin Y, Cookson, Mark R, Ward, Michael E |
| المصدر: | Alzheimers Dement ; ISSN:1552-5279 |
| بيانات النشر: | Wiley |
| سنة النشر: | 2024 |
| المجموعة: | PubMed Central (PMC) |
| مصطلحات موضوعية: | ANXA11, TDP‐43, corticobasal syndrome, variant of uncertain significance |
| الوصف: | Variants of uncertain significance (VUS) surged with affordable genetic testing, posing challenges for determining pathogenicity. We examine the pathogenicity of a novel VUS P93S in Annexin A11 (ANXA11) - an amyotrophic lateral sclerosis/frontotemporal dementia-associated gene - in a corticobasal syndrome kindred. Established ANXA11 mutations cause ANXA11 aggregation, altered lysosomal-RNA granule co-trafficking, and transactive response DNA binding protein of 43 kDa (TDP-43) mis-localization. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | Catalan; Valencian |
| العلاقة: | https://doi.org/10.1002/alz.13915Test; https://pubmed.ncbi.nlm.nih.gov/38923692Test |
| DOI: | 10.1002/alz.13915 |
| الإتاحة: | https://doi.org/10.1002/alz.13915Test https://pubmed.ncbi.nlm.nih.gov/38923692Test |
| حقوق: | © 2024 The Author(s). Alzheimer's & Dementia published by Wiley Periodicals LLC on behalf of Alzheimer's Association. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA. |
| رقم الانضمام: | edsbas.884A2F11 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1002/alz.13915 |
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