AlaSOPro mutation in the gene encoding α-synuclein in Parkinson's disease
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All known autosomal dominant point mutations that cause PD reside within the 11-residue repeat motifs of αSyn.
“all known autosomal dominant point mutations that cause PD reside within these repeat motifs, specifically A30P[120], E46K[121], A53T[122], G51D[123], and H50Q[124]”
From α-synuclein in the pathophysiology of Alzheimer’s disease (2019) · cites this paper as [120]
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- Authors
- Krüger, R., Kuhn, W., Müller, T., Woitalla, D., Graeber, M., Kösel, S., Przuntek, H., Epplen, J. T., Schols, L., & Riess, O.
- Affiliations
- Ruhr University Bochum (DE)
- Max Planck Society (DE)
- Corresponding author
- Riess, Olaf
- Venue
- Nature Genetics
- Published
- 1998-02
- Volume
- 18
- Issue
- 2
- Pages
- 106-108
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2091265794
- Cited by
- 3,836
- References
- 10
- Citations by year
- 2026: 56 · 2025: 64 · 2024: 102 · 2023: 109 · 2022: 115 · 2021: 118 · 2020: 122 · 2019: 134 · 2018: 140 · 2017: 140 · 2016: 117 · 2015: 129 · 2014: 155 · 2013: 169 · 2012: 155
- FWCI
- 92.86
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Open Repository and Bibliography (University of Luxembourg) (submittedVersion)
- Topics
- Health Sciences › Medicine › Neurology › Parkinson's Disease Mechanisms and Treatments
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Nuclear Receptors and Signaling
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Keywords
- alpha-synuclein, Parkinson's disease, synucleinopathies, protein misfolding, UBQLN2, genetic mutations
- MeSH terms
- Alanine, Amino Acid Sequence, Base Sequence, Female, Humans, Male, Nerve Tissue Proteins, Parkinson Disease, Pedigree, Proline, Point Mutation, Polymorphism, Single-Stranded Conformational, Synucleins, alpha-Synuclein
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