The Role of ZFYVE27/Protrudin in Hereditary Spastic Paraplegia

American Journal of Human Genetics

Volumn 83, Issue 1, 2008, Pages 127-128

  Martignoni, Monica ^a   Riano, Elena ^a   Rugarli, Elena I ^a,b  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b UNIVERSITY OF MILANO BICOCCA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

SPASTIN; ZFYVE 27;

DNA POLYMORPHISM; DOWN REGULATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC CODE; GENETIC HETEROGENEITY; HAPLOTYPE MAP; HELA CELL; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HUMAN; IMMUNOFLUORESCENCE; LETTER; MISSENSE MUTATION; NEURITE; PRIORITY JOURNAL;

ALLELES; ANIMALS; CARRIER PROTEINS; CELL LINE, TRANSFORMED; CELL LINE, TUMOR; GENE FREQUENCY; GENES, DOMINANT; GENETICS, POPULATION; HAPLOTYPES; HELA CELLS; HUMANS; MITOCHONDRIAL PROTEINS; MUTATION, MISSENSE; NEURONS; PEDIGREE; POLYMORPHISM, GENETIC; RATS; SPASTIC PARAPLEGIA, HEREDITARY; VESICULAR TRANSPORT PROTEINS;

EID: 46149108590     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2008.05.014     Document Type: Letter

References (4)

1. Fink J.K. Hereditary spastic paraplegia. Curr. Neurol. Neurosci. Rep. 6 (2006) 65-76
2. Hazan J., Fonknechten N., Mavel D., Paternotte C., Samson D., Artiguenave F., Davoine C.S., Cruaud C., Durr A., Wincker P., et al. Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat. Genet. 23 (1999) 296-303
3. Mannan A.U., Krawen P., Sauter S.M., Boehm J., Chronowska A., Paulus W., Neesen J., and Engel W. ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia. Am. J. Hum. Genet. 79 (2006) 351-357
4. Shirane M., and Nakayama K.I. Protrudin induces neurite formation by directional membrane trafficking. Science 314 (2006) 818-821