Point Mutations (Thr240Arg and Ala311Stop) in theParkinGene
Abstract
Autosomal recessive juvenile parkinsonism (AR-JP) is a distinct clinical and genetic entity characterized by selective degeneration of nigral neurons. Recently, the parkin gene responsible for AR-JP has been identified. To date, we found two different deletional mutations including single and multiple exonic deletions. In the present study, we identified two types of point mutations (Thr240Arg and Gln311Stop) involving exons 6 and 8 in the parkin gene of the AR-JP patients from two Turkish families. This is the first report on point mutations for the parkin gene. Furthermore, the Thr240Arg mutation was located on a consensus sequence for the site of phosphorylation by casein kinase II. Identification of its mutation provides an important clue as to the role of the Parkin protein in degeneration of the substantia nigra in the brain of AR-JP patients.
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Failure of the ubiquitin-proteasome system is implicated in the pathogenesis of both sporadic and familial PD.
“Failure of the ubiquitin-proteasome system is implicated in the pathogenesis of both sporadic and familial PD [22,23,24,94,95,96].”
From Degradation of Tyrosine Hydroxylase by the Ubiquitin-Proteasome System in the Pathogenesis of Parkinson’s Disease and Dopa-Responsive Dystonia (2020) · cites this paper as [23]
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References 21 · Cited by 181
- Authors
- Hattori, N., Matsumine, H., Asakawa, S., Kitada, T., Yoshino, H., Elibol, B., Brookes, A. J., Yamamura, Y., Kobayashi, T., Wang, M., Yoritaka, A., Minoshima, S., Shimizu, N., & Mizuno, Y.
- Affiliations
- Juntendo University (JP)
- Keio University (JP)
- Hacettepe University (TR)
- Uppsala University (SE)
- Hiroshima University (JP)
- Corresponding author
- Hattori, Nobutaka
- ORCID
- Venue
- Biochemical and Biophysical Research Communications
- Publisher
- Elsevier BV
- Published
- 1998-08
- Volume
- 249
- Issue
- 3
- Pages
- 754-758
- ISSN
- 0006-291X (ISSN-L)
- OpenAlex
- W2158674636
- Cited by
- 181
- References
- 21
- Citations by year
- 2026: 4 · 2025: 1 · 2024: 3 · 2023: 2 · 2022: 7 · 2021: 4 · 2020: 3 · 2019: 3 · 2018: 4 · 2017: 5 · 2016: 6 · 2015: 5 · 2014: 5 · 2013: 3 · 2012: 5
- FWCI
- 13.85
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Biochemical and Biophysical Research Communications (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Ministry of Education, Culture, Sports, Science and Technology
- National Parkinson Foundation
- Japan Society for the Promotion of Science
- Topics
- Health Sciences › Medicine › Neurology › Parkinson's Disease Mechanisms and Treatments
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Nuclear Receptors and Signaling
- Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
- Keywords
- parkin gene, autosomal recessive juvenile parkinsonism, point mutations, casein kinase II phosphorylation, substantia nigra degeneration, E3 ubiquitin ligase
- MeSH terms
- Adolescent, Adult, Amino Acid Sequence, Base Sequence, Consanguinity, Exons, Female, Genes, Recessive, Humans, Ligases, Male, Parkinson Disease, Pedigree, Proteins, Polymorphism, Restriction Fragment Length, Turkey, Polymerase Chain Reaction, Point Mutation, DNA Primers, Codon, Terminator, Ubiquitin-Protein Ligases
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