Biochemical and genetic analysis of ANK in arthritis and bone disease

Article Abstract:

A combination of radiotracer flux experiments and transgenic mice is used to characterize the activity of wild-type and mutant ANK proteins in order to understand the normal function of the ankylosis gene (ANK) protein and its role in human disease. The combined biochemical and genetic data has confirmed an important role for ANK in PPi (pyrophosphate) transport and has provided a model to describe how different types of mutations in ANKH (the mouse ortholog Ank) lead to mutant disease.

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C6ORF66 is an assembly factor of mitochondrial complex I

Article Abstract:

A missense mutation in a conserved residue of C6ORF66 gene which encodes a 20.2kDa mitochondrial protein is identified through homozygosity mapping on a consanguineous family. It is suggested that C6ORF66 is an assembly factor of complex I.

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NOBOX homeobox mutation causes premature ovarian failure

Article Abstract:

An argument whether mutations in the newborn ovary homeobox (NOBOX) gene cause premature ovarian failure (POF) is studied and it is concluded that NOBOX mutations can cause POF.

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