Retention of pendrin in the endoplasmic reticulum is a major mechanism for Pendred syndrome

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Signals and mechanisms for protein retention in the endoplasmic reticulum

ER before being further transported downstream in the secretory system. Polypeptides that fail to fold properly After their co-translational insertion into the ER lumen or never become part of a multisubunit complex are or the ER membrane, most proteins are transported retained within this compartment. It seems that multiple via the Golgi apparatus downstream on the secretory proteolytic pathwa...

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Expression of pendrin and the Pendred syndrome (PDS) gene in human thyroid tissues.

The gene recently cloned that is responsible for the Pendred syndrome (PDS), an autosomal recessive disease characterized by goiter and congenital sensorineural deafness, is mainly expressed in the thyroid gland. Its product, designated pendrin, was shown to transport chloride and iodide. To investigate whether the PDS gene is altered during thyroid tumorigenesis, PDS gene expression and pendri...

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ژورنال

عنوان ژورنال: Human Molecular Genetics

سال: 2002

ISSN: 1460-2083

DOI: 10.1093/hmg/11.21.2625