The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Novel PINK1 mutations in early‐onset parkinsonism
Abstract
PINK1 was recently found to be associated with PARK6 as the causative gene. We performed mutation analysis in eight inbred families whose haplotypes link to the PARK6 region. We identified six pathogenic mutations (R246X, H271Q, E417G, L347P, and Q239X/R492X) in six unrelated families. All sites of mutations were novel, suggesting that PINK1 may be the second most common causative gene next to parkin in parkinsonism with the recessive mode of inheritance. Ann Neurol 2004;56:424–427
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Citations
Cites
Hereditary Early-Onset Parkinson's Disease Caused by Mutations in PINK1
Valente, E. M., Abou-Sleiman, P. M., Caputo, V., Muqit, M. M. K., Harvey, K., Gispert, S., Ali, Z., Del Turco, D., Bentivoglio, A. R., Healy, D. G., et al. (2004) · Science · doi:10.1126/science.1096284 · Cited by 3,481
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Regulation of autophagy by ROS: physiology and pathology
Scherz-Shouval, R., & Elazar, Z. (2011) · Trends in Biochemical Sciences · doi:10.1016/j.tibs.2010.07.007 · Cited by 1,263
Mitochondria in the aetiology and pathogenesis of Parkinson's disease
Schapira, A. H. (2008) · The Lancet Neurology · doi:10.1016/s1474-4422(07)70327-7 · Cited by 883
Genetics of Parkinson disease: paradigm shifts and future prospects
Farrer, M. J. (2006) · Nature Reviews Genetics · doi:10.1038/nrg1831 · Cited by 707
PINK1 Protects against Oxidative Stress by Phosphorylating Mitochondrial Chaperone TRAP1
Pridgeon, J. W., Olzmann, J. A., Chin, L.-S., & Li, L. (2007) · PLoS Biology · doi:10.1371/journal.pbio.0050172 · Cited by 596
Cooper, O., Seo, H., Andrabi, S., Guardia-Laguarta, C., Graziotto, J., Sundberg, M., McLean, J. R., Carrillo-Reid, L., Xie, Z., Osborn, T., et al. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3003985 · Cited by 508
Metadata
- Authors
- Hatano, Y., Li, Y., Sato, K., Asakawa, S., Yamamura, Y., Tomiyama, H., Yoshino, H., Asahina, M., Kobayashi, S., Hassin‐Baer, S., Lu, C., Ng, A. R., Rosales, R. L., Shimizu, N., Toda, T., Mizuno, Y., & Hattori, N.
- Venue
- Annals of Neurology
- Publisher
- Wiley
- Published
- 2004-08-31
- Volume
- 56
- Issue
- 3
- Pages
- 424-427
- ISSN
- 0364-5134 (ISSN-L)
- 1531-8249
- OpenAlex
- W2019021459
- Cited by
- 245
- References
- 1
- FWCI
- 15.61
- Type
- journal article
- Language
- en
- Open access
- closed
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- Hatano, Y., Li, Y., Sato, K., Asakawa, S., Yamamura, Y., Tomiyama, H., Yoshino, H., Asahina, M., Kobayashi, S., Hassin‐Baer, S., Lu, C., Ng, A. R., Rosales, R. L., Shimizu, N., Toda, T., Mizuno, Y., & Hattori, N. (2004). Novel PINK1 mutations in early‐onset parkinsonism. Annals of Neurology. https://doi.org/10.1002/ana.20251
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