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A novel KIAA0196 mutation in a Chinese patient with spastic paraplegia 8: A case report
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Eight of eleven pathogenic SPG8 mutations are located in the central spectrin domain of strumpellin, and five of those are between residues 608 and 790.
“Eight of eleven mutations identified in SPG8 patients localize to the spectrin-repeat domain, suggesting that this region could be particularly critical for SPG8 pathogenesis (8, 25, 32).”
From Hereditary spastic paraplegia SPG8 mutations impair CAV1-dependent, integrin-mediated cell adhesion (2020) · cites this paper as [25]
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Research works printed but not linked: 7
- Ichinose, 2016, Exome sequencing reveals a novel missense mutation in the KIAA0196 gene in a Japanese patient with SPG8, Clin Neurol Neurosurg, 144, 36, 10.1016/j.clineuro.2016.02.031 · DOI · Paper page
- Jahic, 2015, The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8, Orphanet J Rare Dis, 10, 147, 10.1186/s13023-015-0359-x · DOI · Paper page
- Chrestian, 2017, Clinical and genetic study of hereditary spastic paraplegia in Canada, Neurol Genet, 3, e122, 10.1212/NXG.0000000000000122 · DOI
- Valdmanis, 2007, Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia, Am J Hum Genet, 80, 152, 10.1086/510782 · DOI · Paper page
- Gasser, 2010, EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias, Eur J Neurol, 17, 179, 10.1111/j.1468-1331.2009.02873.x · DOI
- Jahic, 2014, A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8, J Neurol Sci, 347, 372, 10.1016/j.jns.2014.10.018 · DOI
- Elliott, 2013, A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort, J Med Genet, 50, 819, 10.1136/jmedgenet-2013-101715 · DOI · Paper page
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Hereditary spastic paraplegia SPG8 mutations impair CAV1-dependent, integrin-mediated cell adhesion
Lee, S., Park, H., Zhu, P.-P., Jung, S.-Y., Blackstone, C., & Chang, J. (2020) · Science Signaling · doi:10.1126/scisignal.aau7500 · Cited by 22
Case report: A novel WASHC5 variant altering mRNA splicing causes spastic paraplegia in a patient
Gao, S.-Y., Liu, Y.-X., Dong, Y., Fan, L.-L., Ding, Q., & Liu, L. (2023) · Frontiers in Genetics · doi:10.3389/fgene.2023.1205052 · Cited by 2
Metadata
- Authors
- Ma, L., Shi, Y., Chen, Z., Li, S., Qin, W., & Zhang, J.
- Venue
- Medicine
- Published
- 2018-05
- Volume
- 97
- Issue
- 20
- Pages
- e10760
- ISSN
- 0025-7974
- PMC
- PMC5976306
- Cited by
- 7
- References
- 0
- Language
- en
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