Cloning, expression and characterization of the SPG4 gene...

Details Cloning, expression and characterization of the SPG4 gene... Cloning, expression and characterization of the SPG4 gene...

2005-08-02

2005-08-02

Nguyen, Dave Trong (Department: 1636)

Chemistry: molecular biology and microbiology

Micro-organism, tissue cell culture or enzyme using process...

Preparing compound containing saccharide radical

C536S023100, C536S024330

Reexamination Certificate

active

06924126

ABSTRACT:
The invention concerns the identification and characterization of the SPG4 gene encoding spastin, and some mutations thereof responsible for the most frequent form of autosomal dominant familial spastic paraplegia, to the cloning and characterization of its cDNA and the corresponding polypeptides. The invention also concerns vectors, transformed cells and transgenic animals as well as diagnostic methods and kits, and methods for selecting a chemical or biological compound capable of directly or indirectly interacting with said polypeptide.

REFERENCES:
R. Kikuno et al, “Prediction of the Coding Sequences of Unidentified Human Genes. XIV. The Complete Sequences of 100 cDNA Clones From Brain for Large Proteins in Vitro.”,DNA RES,Jun. 30, 1999, vol. 6, pp. 197-205 [XP000852618].
R.M. Myers, “Human STS SHGC-44567”, Database EMBL Sequences 'Online!, Accession No. HS1179930, Mar. 29, 1997 [XP002156510].
J. Hazan et al, “Spastin, a New AAA Protein, is Altered in the Most Frequent Form of Autosomal Dominent Spastig Paraplegia”,Nat. Genet.,Nov. 1999, vol. 23, pp. 296-303 [XP000914979].
O. Heinzlef et al, “Mapping of a Complicated Familial Spastic Paraplegia to Locus SPG4 on Chromosome 2p”,J. Med. Genet.,Feb. 1998, vol. 35, No. 2, pp. 89-93 [XP000914971].

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