换一批Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis.
第一作者：
Ginevra,Zanni
第一单位：
Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, Istituti di Ricovero e Cura a Carattere Scientifico, 00165 Rome, Italy.
作者：
医学主题词
水母荧光素(Aequorin);氨基酸序列(Amino Acid Sequence);碱基序列(Base Sequence);印迹法, 蛋白质(Blotting, Western);钙(Calcium);小脑共济失调(Cerebellar Ataxia);DNA引物(DNA Primers);遗传性疾病, X连锁(Genetic Diseases, X-Linked);内环境稳定(Homeostasis);人类(Humans);模型, 分子(Models, Molecular);分子序列数据(Molecular Sequence Data);诱变, 定点(Mutagenesis, Site-Directed);突变(Mutation);神经元(Neurons);系谱(Pedigree);质膜钙转运ATP酶类(Plasma Membrane Calcium-Transporting ATPases);蛋白质亚型(Protein Isoforms);序列分析, DNA(Sequence Analysis, DNA)
DOI
10.1073/pnas.1207488109
PMID
22912398
发布时间
2025-05-29
基金项目
492/B/TI_/Telethon/Italy
GGP08145/TI_/Telethon/Italy
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