Archives of neurology · 2003
A novel central nervous system-enriched spinocerebellar ataxia type 7 gene product.
СтатьяПоддержка исследования: вне правительства СШАПоддержка службы здравоохранения СШАНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Einum David D, Clark Anna M, Townsend Jeannette J, Ptacek Louis J, Fu Ying-Hui
Аннотация
CONTEXT: Polyglutamine-mediated neurodegeneration in spinocerebellar ataxia type 7 (SCA7) involves specific central nervous system structures despite widespread expression of the mutant ataxin-7 protein.
OBJECTIVE: To determine whether expression of multiple gene products could contribute to selective neurodegeneration in SCA7.
RESULTS: We identified a novel SCA7 transcript and protein, both of which are enriched within the central nervous system. An isoform-specific antibody revealed that the novel ataxin-7 variant, in contrast with the previously described protein, localizes to neuronal cytoplasm and not to inclusion bodies present within the tissues of patients with SCA7.
CONCLUSIONS: In addition to expanding our understanding of SCA7 gene expression, identification of a novel ataxin-7 protein enriched in the central nervous system suggests that expression of multiple polyglutamine-containing proteins may play a role in generating the neurodegenerative patterns characteristic of SCA7 and other polyglutamine expansion diseases.
OBJECTIVE: To determine whether expression of multiple gene products could contribute to selective neurodegeneration in SCA7.
RESULTS: We identified a novel SCA7 transcript and protein, both of which are enriched within the central nervous system. An isoform-specific antibody revealed that the novel ataxin-7 variant, in contrast with the previously described protein, localizes to neuronal cytoplasm and not to inclusion bodies present within the tissues of patients with SCA7.
CONCLUSIONS: In addition to expanding our understanding of SCA7 gene expression, identification of a novel ataxin-7 protein enriched in the central nervous system suggests that expression of multiple polyglutamine-containing proteins may play a role in generating the neurodegenerative patterns characteristic of SCA7 and other polyglutamine expansion diseases.