Spastin: الفرق بين النسختين

'''Spastin'''{{فاصل}} ('''Spastin''') هوَ [[بروتين]] [[منطقة مشفرة|يُشَفر]] بواسطة [[جين]] Spastin في [[إنسان|الإنسان]].<ref>{{cite journal |vauthors=Roll-Mecak A, Vale RD | title = Structural basis of microtubule severing by the hereditary spastic paraplegia protein spastin | journal = [[Nature (journal)|Nature]] | volume = 451 | issue = 7176| pages = 363–7 | year = 2008 | pmid = 18202664 | pmc = 2882799 | doi = 10.1038/nature06482 }}</ref><ref>{{cite web | title = Entrez Gene: SPAST spastin| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6683| accessdate = }}</ref>

==الوظيفة==

==الأهمية السريرية==

==المراجع==

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*{{cite journal |vauthors=Meijer IA, Hand CK, Cossette P, etal |title=Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia. |journal=[[Arch. Neurol.]] |volume=59 |issue= 2 |pages= 281–6 |year= 2002 |pmid= 11843700 |doi=10.1001/archneur.59.2.281 }}

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*{{cite journal |vauthors=Sauter S, Miterski B, Klimpe S, etal |title=Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia. |journal=[[Hum. Mutat.]] |volume=20 |issue= 2 |pages= 127–32 |year= 2002 |pmid= 12124993 |doi= 10.1002/humu.10105 }}

*{{cite journal |vauthors=Yabe I, Sasaki H, Tashiro K, etal |title=Spastin gene mutation in Japanese with hereditary spastic paraplegia. |journal=[[J. Med. Genet.]] |volume=39 |issue= 8 |pages= e46 |year= 2002 |pmid= 12161613 |doi=10.1136/jmg.39.8.e46 | pmc=1735214 }}

*{{cite journal |vauthors=Proukakis C, Hart PE, Cornish A, etal |title=Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia. |journal=[[J. Neurol. Sci.]] |volume=201 |issue= 1-2 |pages= 65–9 |year= 2002 |pmid= 12163196 |doi=10.1016/S0022-510X(02)00192-2 }}

*{{cite journal |vauthors=Ki CS, Lee WY, Han DH, etal |title=A novel missense mutation (I344K) in the SPG4gene in a Korean family with autosomal-dominant hereditary spastic paraplegia. |journal=[[J. Hum. Genet.]] |volume=47 |issue= 9 |pages= 473–7 |year= 2002 |pmid= 12202986 |doi= 10.1007/s100380200068 }}

*{{cite journal |vauthors=Namekawa M, Takiyama Y, Sakoe K, etal |title=A Japanese SPG4 family with a novel missense mutation of the SPG4 gene: intrafamilial variability in age at onset and clinical severity. |journal=[[Acta Neurol. Scand.]] |volume=106 |issue= 6 |pages= 387–91 |year= 2003 |pmid= 12460147 |doi=10.1034/j.1600-0404.2002.01254.x }}

*{{cite journal |vauthors=Starling A, Rocco P, Passos-Bueno MR, etal |title=Autosomal dominant (AD) pure spastic paraplegia (HSP) linked to locus SPG4 affects almost exclusively males in a large pedigree. |journal=[[J. Med. Genet.]] |volume=39 |issue= 12 |pages= e77 |year= 2003 |pmid= 12471215 |doi=10.1136/jmg.39.12.e77 | pmc=1757223 }}

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