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Nat Genet. 1996 Oct;14(2):157-62.

The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4- phosphate 5-kinase.

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  • 1Department of Biochemistry and Molecular Genetics, Imperial College School of Medicine at St. Mary's, London, UK.

Abstract

The STM7 gene on chromosome 9 was recently 'excluded' as a candidate for Friedreich's ataxia following the identification of an expanded intronic GAA triplet repeat in the adjacent gene, X25, in patients with the disease. Using RT-PCR, northern and sequence analyses, we now demonstrate that X25 comprises part of the STM7 gene, contributing to at least four splice variants, and report the identification of new coding sequences. Functional analysis of the STM7 recombinant protein corresponding to the reported 2.7-kilobase transcript has demonstrated PtdlnsP 5-kinase activity, supporting the idea that the disease is caused by a defect in the phosphoinositide pathway, possibly affecting vesicular trafficking or synaptic transmission.

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PMID:
8841185
[PubMed - indexed for MEDLINE]
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