The DOI matches its Crossref record; 10 of the 10 references it cites were found in a registry or an index.
Alpha‐synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease
Abstract
Background: Alpha‐synuclein plays a central role in the pathophysiology of Parkinson's disease. Three missense mutations in SNCA, the gene encoding alpha‐synuclein, as well as genomic multiplications have been identified as causes for autosomal‐dominantly inherited Parkinsonism. Methods: Here, we describe a novel missense mutation in exon 4 of SNCA encoding a H50Q substitution in a patient with dopa‐responsive Parkinson's disease with a family history of parkinsonism and dementia. Results: The variant was not observed in public databases or identified in unrelated subjects. Conclusions: The substitution's evolutionary conservation and protein modeling provide additional support for pathogenicity as the amino acid perturbs the same amphipathic alpha helical structure as the previously described pathogenic mutations. © 2013 Movement Disorder Society
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Mutation in the α-Synuclein Gene Identified in Families with Parkinson's Disease
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AlaSOPro mutation in the gene encoding α-synuclein in Parkinson's disease
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The new mutation, E46K, of α‐synuclein causes parkinson and Lewy body dementia
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Research works printed but not linked: 2
- Appel-Cresswell S, 2012, Alpha-synuclein H50Q, a novel pathogenic mutation for Parkinson's disease [abstract], Mov Disord, 27, 1360
- Proukakis C, 2012, A novel SNCA (alpha‐synuclein) missense mutation in Parkinson's disease, Mov Disord, 27, LBA 34
Cited by
Inflammation and immune dysfunction in Parkinson disease
Tansey, M. G., Wallings, R. L., Houser, M. C., Herrick, M. K., Keating, C. E., & Joers, V. (2022) · Nature Reviews Immunology · doi:10.1038/s41577-022-00684-6 · Cited by 1,382
Solid-state NMR structure of a pathogenic fibril of full-length human α-synuclein
Tuttle, M. D., Comellas, G., Nieuwkoop, A. J., Covell, D. J., Berthold, D. A., Kloepper, K. D., Courtney, J. M., Kim, J. K., Barclay, A. M., Kendall, A., et al. (2016) · Nature Structural & Molecular Biology · doi:10.1038/nsmb.3194 · Cited by 959
α-synuclein toxicity in neurodegeneration: mechanism and therapeutic strategies
Wong, Y. C., & Krainc, D. (2017) · Nature Medicine · doi:10.1038/nm.4269 · Cited by 897
Bendor, J. T., Logan, T. P., & Edwards, R. H. (2013) · Neuron · doi:10.1016/j.neuron.2013.09.004 · Cited by 825
Cryo-EM structure of alpha-synuclein fibrils
Guerrero-Ferreira, R., Taylor, N. M., Mona, D., Ringler, P., Lauer, M. E., Riek, R., Britschgi, M., & Stahlberg, H. (2018) · eLife · doi:10.7554/elife.36402 · Cited by 600
Metadata
- Authors
- Appel‐Cresswell, S., Vilarino‐Guell, C., Encarnacion, M., Sherman, H., Yu, I., Shah, B., Weir, D., Thompson, C., Szu‐Tu, C., Trinh, J., Aasly, J. O., Rajput, A., Rajput, A. H., Jon Stoessl, A., & Farrer, M. J.
- Venue
- Movement Disorders
- Publisher
- Wiley
- Published
- 2013-03
- Volume
- 28
- Issue
- 6
- Pages
- 811-813
- ISSN
- 0885-3185 (ISSN-L)
- 1531-8257
- OpenAlex
- W2139506875
- Cited by
- 667
- References
- 10
- FWCI
- 32.49
- Type
- journal article
- Language
- en
- Open access
- closed
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