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Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy
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CMT4C is caused by mutations in the SH3TC2/KIAA1985 gene on chromosome 5q32.
“We have previously shown that CMT4C is caused by mutations in the SH3TC2 (Src homology 3 domain and tetratricopeptide repeats 2)/KIAA1985 gene on chromosome 5q32 (Senderek et al., 2003).”
From SH3TC2, a protein mutant in Charcot–Marie–Tooth neuropathy, links peripheral nerve myelination to endosomal recycling (2010) · cites this paper as Senderek et al., 2003
Mutations in the SH3TC2/Sh3tc2 gene cause demyelinating hereditary neuropathy in humans and mice.
“We have previously shown that mutations in the SH3TC2/Sh3tc2 gene cause demyelinating hereditary neuropathy in humans and mice (Senderek et al., 2003;Arnaud et al., 2009).”
From SH3TC2, a protein mutant in Charcot–Marie–Tooth neuropathy, links peripheral nerve myelination to endosomal recycling (2010) · cites this paper as Senderek et al., 2003
SH3TC2 contains Src homology 3 domains and tetratricopeptide repeats known to mediate the formation of protein complexes.
“Based on the observation that SH3TC2 contains several protein motifs (Src homology 3 domain domains and tetratricopeptide repeat repeats, Fig. 1A) known to mediate the formation of protein complexes (Senderek et al., 2003), we hypothesized that we might be able to deduce the function of SH3TC2 from already known functions of interacting proteins.”
From SH3TC2, a protein mutant in Charcot–Marie–Tooth neuropathy, links peripheral nerve myelination to endosomal recycling (2010) · cites this paper as Senderek et al., 2003
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Protein modules and signalling networks
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Pasinelli, P., & Brown, R. H. (2006) · Nature Reviews Neuroscience · doi:10.1038/nrn1971 · Cited by 1,107
Stendel, C., Roos, A., Kleine, H., Arnaud, E., Özçelik, M., Sidiropoulos, P. N. M., Zenker, J., Schüpfer, F., Lehmann, U., Sobota, R. M., et al. (2010) · Brain · doi:10.1093/brain/awq168 · Cited by 102
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Metadata
- Authors
- Senderek, J., Bergmann, C., Stendel, C., Kirfel, J., Verpoorten, N., De Jonghe, P., Timmerman, V., Chrast, R., Verheijen, M. H. G., Lemke, G., Battaloglu, E., Parman, Y., Erdem, S., Tan, E., Topaloglu, H., Hahn, A., Müller-Felber, W., Rizzuto, N., Fabrizi, G. M., Stuhrmann, M., Rudnik-Schöneborn, S., Züchner, S., Michael Schröder, J., Buchheim, E., Straub, V., Klepper, J., Huehne, K., Rautenstrauss, B., Büttner, R., Nelis, E., & Zerres, K.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2003-11
- Volume
- 73
- Issue
- 5
- Pages
- 1106-1119
- ISSN
- 0002-9297
- Cited by
- 178
- References
- 1
- Language
- en
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