Novel ORAI1 Mutation Disrupts Channel Trafficking Resulting in Combined Immunodeficiency

Novel ORAI1 Mutation Disrupts Channel Trafficking Resulting in Combined Immunodeficiency

<p dir="ltr">Store-operated Ca<sup>2+</sup> entry (SOCE) represents a predominant Ca<sup>2+</sup> influx pathway in non-excitable cells. SOCE is required for immune cell activation and is mediated by the plasma membrane (PM) channel ORAI1 and the endoplasmic r...

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Bibliographic Details
Main Author: Fang Yu (156838) (author)
Other Authors: Nourhen Agrebi (14151222) (author), Rafah Mackeh (14151225) (author), Khaled Abouhazima (9401925) (author), Khadija KhudaBakhsh (14151228) (author), Mehdi Adeli (11855663) (author), Bernice Lo (3441317) (author), Amel Hassan (14151231) (author), Khaled Machaca (194372) (author)
Published: 2021
Subjects:
Biological sciences
Genetics
Biomedical and clinical sciences
Clinical sciences
Immunology
Combined immunodeficiency
ORAI1
store-operated Ca2+ entry
trafficking
integral membrane protein
channel
Ca2+ signaling
immune cell function
myotonia
anhidrosis
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