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Directory of Open Access Journals Sweden. Full Text Available Mitochondrial production of reactive oxygen species ROS affects many processes in health and disease. SPG 7 assembles with AFG3L2 into the mAAA protease at the inner membrane of mitochondria, degrades damaged proteins, and regulates the synthesis of mitochondrial ribosomes.

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A variant in SPG 7 that replaces arginine with glutamine Q is associated with several phenotypes, including toxicity of chemotherapeutic agents, type 2 diabetes mellitus, and as reported here coronary artery disease. Our results thus reveal an unexpected link between the phosphorylation-dependent regulation of the mitochondria mAAA protease affecting ROS production and several clinical phenotypes.

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We report here that the revertant mosaicism of a compound heterozygous proband with an autosomal recessive genodermatosis, generalized atrophic benign epidermolysis bullosa, is caused by mitotic gene. Mutations in the pericentrin PCNT gene cause primordial dwarfism.

Rauch, Anita; Thiel, Christian T. Fundamental processes influencing human growth can be revealed by studying extreme short stature.

Using genetic linkage analysis, we find that biallelic loss-of-function mutations in the centrosomal pericentrin PCNT gene on chromosome 21qOwn or manage this property? Claim your listing for free to respond to reviews, update your profile and much. Flights Holiday Rentals Restaurants Things to.

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