A NOVEL MUTATION IN ISOFORM 3 OF THE PLASMA MEMBRANE CALCIUM PUMP IMPAIRS CALCIUM HOMEOSTASIS IN A P

来源 :上海浦东免疫化学国际生物论坛 | 被引量 : 0次 | 上传用户：guxingyiren

【摘要】

：

Isoform 3 of the plasma membrane calcium ATPase (PMCA3 pump), which is highly expressed in brain and cerebellum, plays an important role in the regulation of ne

【作者】

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Tito Cali Raffaele Lopreiato Joshua Shimony Marisa Vineyard Martina Frizzarin GinevraZanni Giuseppe Zanotti Marisa Brini Marwan Shinawi Ernesto Carafoli

【机构】

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DepartmentofBiomedicalScience,UniversityofPadova,ItalyMallinkrodtInstituteofRadiology,WashingtonUniv

【出处】

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上海浦东免疫化学国际生物论坛

【发表日期】

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2015年11期

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Isoform 3 of the plasma membrane calcium ATPase (PMCA3 pump), which is highly expressed in brain and cerebellum, plays an important role in the regulation of neuronal calcium signaling.A novel mutation in the ATP2B3 gene encoding the PMCA3 pump has been discovered in a patient with global developmental delay, generalized hypotonia, and cerebellar ataxia.

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A NOVEL MUTATION IN ISOFORM 3 OF THE PLASMA MEMBRANE CALCIUM PUMP IMPAIRS CALCIUM HOMEOSTASIS IN A P

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