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Mutations in the KIAA0196 Gene at the SPG8 Locus Cause Hereditary Spastic Paraplegia
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“Mutations in the gene encoding strumpellin cause autosomal dominant hereditary spastic paraplegia (HSP), in which there is degeneration of corticospinal tract axons.”
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In the citing paper
“Consistent with the idea that complexes containing mutant strumpellin are non-functional, human wild-type, but not mutant, strumpellin could rescue the curly tail phenotype seen in zebrafish lacking strumpellin [8].”
In the citing paper
“Three disease-causing mutations in strumpellin have been described, V626F, L619F and N471D, and all lie in highly conserved sequences [8].”
In the citing paper
“Three disease-causing mutations in strumpellin have been described, V626F, L619F and N471D, and all lie in highly conserved sequences [8].”
In the citing paper
“Expression of disease-mutant strumpellin on a wild-type background did not cause a phenotype, suggesting that the mutant proteins do not act by a dominant negative effect [8].”
In the citing paper
“These results are consistent with findings in zebrafish, where expression of disease-mutant strumpellin in animals in which endogenous strumpellin was present did not cause a phenotype [8].”
In the citing paper
“In zebrafish, morpholino-mediated depletion of strumpellin caused a curly tail phenotype that was rescued by expression of wild-type but not disease-mutant human strumpellin, indicating that the mutants are non-functional.”
In the citing paper
“In zebrafish, morpholino-mediated depletion of strumpellin caused a curly tail phenotype that was rescued by expression of wild-type but not disease-mutant human strumpellin, indicating that the mutants are non-functional.”
In the citing paper
“Expression of disease-mutant strumpellin on a wild-type background did not cause a phenotype, suggesting that the mutant proteins do not act by a dominant negative effect [8].”
In the citing paper
“In zebrafish, morpholino-mediated depletion of strumpellin caused a curly tail phenotype that was rescued by expression of wild-type but not disease-mutant human strumpellin, indicating that the mutants are non-functional.”
In the citing paper
“Mutations in WASHC5 (also known as KIAA0196) cause autosomal dominant hereditary spastic paraplegia (HSP) type SPG8.”
From Hereditary spastic paraplegia SPG8 mutations impair CAV1-dependent, integrin-mediated cell adhesion (2020) · cites this paper as [6]
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Research works printed but not linked: 35
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Self-citation
Metadata
- Authors
- Valdmanis, P. N., Meijer, I. A., Reynolds, A., Lei, A., MacLeod, P., Schlesinger, D., Zatz, M., Reid, E., Dion, P. A., Drapeau, P., & Rouleau, G. A.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2007-01
- Volume
- 80
- Issue
- 1
- Pages
- 152-161
- ISSN
- 0002-9297
- Cited by
- 182
- References
- 0
- Language
- en
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