Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII

Article Abstract:

A study was conducted to identify genetic mutations in the ER-Golgi intermediate compartment protein, ERGIC-53, which cause combined deficiency of factors V and VIII, an autosomal recessive bleeding disorder. DNA sequence analysis identified two different mutations, accounting for all affected individuals. It was observed that the two mutations demonstrate complete lack of expression of the mutated gene in immortalized lymphocytes. These findings suggest that ERGIC-53 may function as a molecular escort for the transport from ER to golgi of a specific subset of secreted proteins.

Research, Physiological aspects, Gene mutations, Gene mutation, Blood clotting disorders, Blood coagulation disorders, Genetic aspects

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Procollagen traverses the Golgi stack without leaving the lumen of cisternae: evidence for cisternal maturation

Article Abstract:

The transport of supramolecular aggregates of procollagen type I (PC) along the secretory pathway in embryonic tendon fibroblasts was investigated. Findings revealed that the PC aggregates stay in the lumen of the cisternae when they reach the first cisternae of the Golgi stacks. PC aggregates were discovered to progress in the cis-trans direction without going inside traditional small vesicles or larger dissociative elements. These results suggest that intracellular transport of PC takes place through cisternal maturation.

Analysis, Proteins, Biological transport

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