期刊
NEUROREPORT
卷 15, 期 5, 页码 873-876出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/00001756-200404090-00028
关键词
amyotrophic lateral sclerosis; giant axonal neuropathy; gigaxonin; neurofilaments
资金
- Medical Research Council [G0000749] Funding Source: Medline
- MRC [G0000749] Funding Source: UKRI
Mutations in the gigaxonin gene cause giant axonal neuropathy. The amino-terminus of gigaxonin contains a BTB domain but no binding partners for this domain have so far been identified. Here, we demonstrate that the gigaxonin BTB domain forms homodimers. Other BTB-bearing proteins have also been shown to dimerise via their BTB domains with the dinners then capable of interacting with other ligands. Thus, the gigaxonin BTB domain may function in a similar manner. We also demonstrate that gigaxonin is expressed in a wide variety of neuronal cell types where a significant proportion exists in cell bodies. Confocal microscope studies of gigaxonin-transfected COS-7 cells and cultured neurones revealed that a proportion of gigaxonin localises to the Golgi and endoplasmic reticulum.
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