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| 1 | Genetic and structural analyses suggest that a novel SPG3A mutation causes severe phenotypes of hereditary spastic paraplegia显示文摘Hereditary spastic paraplegia (HSP) is a group of neurodegenerative diseases. The genotypes and phenotypes of HSP are extremely heterogenous. SPG3A is one of the identified genes underlying HSP, and codes for a GTPase, atlastin. Mutations in SPG3A are currently believed to be associated with early onset and mild phenotypes. And most structura predictions could not detect gross changes in the mutant protein. However, in a severely affected HSP family we have identified a novel SPG3A mutation, c.1228G>A (p.G410R), in a Tibetan kindred. The mutation occurred at the highly conserved nucleotide and co-segregated with the disease, and was absent in the control subjects. Structural predictions showed that the Tibetan mutation occurred at the linking part between the guanylate-binding protein domain (GB, the ball region) and the transmembrane helices (TM, the rod region) at the start point of an α-helix, which may disrupt the helix, and cause changes in the overall structure of the transmembrane region of the molecule. Our results indicate that severe pheno- types can also arise from SPG3A mutations and the linking part of the guanylate-binding protein domainand the transmembrane helices might be crucial in determining the severity of the disease. This paper not only presents the first SPG3A mutational report from the Chinese population, but also provides po- tential evidence for a possible correlation between the severity of the phenotypes of HSP with the ex- tension of the changes in the protein structures of atlastin. | CHEN Suqin ZHOU Yan LI Xunhua Labu HUANG Shuang HUANG Weijun ZHOU Chunlong MAXWELL Patrick H WANG Yiming | 2006 | Chinese Science Bulletin2006，51，16： | 2 |
| 2 | An energy optimi- zation strategy for power-split drivetrain plug-in hybrid electric vehicles 显示文摘 | Yiming H Mashrur C Pierluigi P | 2012 | Transportation Research Part C: Emerging Technologies2012，22，： | 1 |
| 3 | Neuroprotective effects of breviscapine against apoptosis induced by transient focal cerebral ischaemia in rats 显示文摘 | Yiming L Wei H Aihua L | 2008 | J Pharm Pharmacol2008，60，3： | 1 |
| 4 | Autogenous coronoid process pedicled on temporal muscle grafts for reconstruction of the mandible condylar in patients with temporomandibular joint ankylosis显示文摘 | YIMING L I U JIHUA L I JING H U | 2010 | Oral Surgery Oral Medicine Oral Pathology Oral Radiology and Endodontology2010，109，2： | 1 |
| 5 | Mechanistic diversity and regulation of type II fatty acid synthesis显示文摘 | MARRAKCHI H ZHANG Yiming ROCK C O | 2002 | Biochemical Society2002，30，6： | 1 |
| 6 | Enhancing Antifoul- ing Property of Polysulfone Ultrafiltration Membrane by Grafting Zwitterionic Copolymer via UV-Initiated Polymerization显示文摘 | Yu H Gao Yiming Kang Guodong | 2009 | Jour- nal of Membrane Science2009，342，： | 1 |
| 7 | Reverse logistics in the elec- tronic industry of China: A case study显示文摘 | Lau K H Wang Yiming | 2009 | Supply Chain Management: An International Journal2009，14，6： | 1 |
| 8 | UV or Visible-light-induced Degradation of X-3B on TiO2 Nanoparticles:The Influence of Adsorption显示文摘 | Xu Yiming Cooper H Langford | 2001 | Langmuir2001，17，： | 1 |
| 9 | Neuroprotective effects of breviscapine against apoptosis induced by transient focal cerebral ischaemia in rats显示文摘 | Yiming L Wei H Aihua L | 2008 | J Pharm Pharmacol2008，60，3： | 1 |
| 10 | Reverse logistics in the elec- tronic industry of China: A case study 显示文摘 | Kwok H L Wang Yiming | 2009 | Supply Chain Management An International Journal2009，14，6： | 1 |
| 11 | Esti- mating value at risk of crude oil price and its spillover effect using the GED-GARCH approach 显示文摘 | Fan Ying Zhang Yuejun Tsai H T Wei Yiming | 2008 | Energy Economics2008，30，6： | 1 |
| 12 | A novel photosensitizer of palladium (Ⅱ) phthalocyanine tetrasulfonate for chlorophenol oxidation under visible light irradiation显示文摘 | Yiming X Zhigang X | 2004 | Chem Lett2004，33，9： | 1 |
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