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Ataxin-10, the spinocerebellar ataxia type 10 neurodegenerative disorder protein, is essential for survival of cerebellar neurons. Paper-10534074. We have cloned the rat SCA10 gene and expressed the corresponding protein in HEK293 cells. Paper-10534074.
Atx-10 has an apparent molecular mass of approximately 55 kDa and belongs to the family of armadillo repeat proteins. Paper-10534074.
In solution, it tends to form homotrimeric complexes, which associate via a tip-to-tip contact with the concave sides of the molecules facing each other.
Although clinical features of the disease are well characterized, nothing is known so far about the affected SCA10 gene product, ataxin-10 ( Atx-10). Paper-10534074.
Atx-10 immunostaining of mouse and human brain sections revealed a predominantly cytoplasmic and perinuclear localization with a clear restriction to olivocerebellar regions. Paper-10534074.
Spinocerebellar ataxia (SCA) type 10, an autosomal dominant disease characterized by cerebellar ataxia, is caused by a novel pentanucleotide (ATTCT) repeat expansion in the SCA10 gene. Paper-10534074.
Knock down of SCA10 in primary neuronal cells by small interfering RNAs resulted in an increased apoptosis of cerebellar neurons, arguing for a loss-of-function phenotype in SCA10 patients. Paper-10534074.
Important links !
iHOP - Information Hyperlinked over Proteins .
Concept & Implementation by Robert Hoffmann.