Characterization of a nonsense mutation in the ceruloplasmin gene resulting in diabetes and neurodegenerative disease.

@article{Takahashi1996CharacterizationOA,
  title={Characterization of a nonsense mutation in the ceruloplasmin gene resulting in diabetes and neurodegenerative disease.},
  author={Yoshitomo Takahashi and Hiroaki Miyajima and Susumu Shirabe and Shigenobu Nagataki and Akihito Suenaga and Jonathan D. Gitlin},
  journal={Human molecular genetics},
  year={1996},
  volume={5 1},
  pages={
          81-84
        },
  url={https://api.semanticscholar.org/CorpusID:14550389}
}
Identification of this kindred extends the spectrum of ceruloplasmin gene mutations resulting in this autosomal recessive, late-onset neurodegenerative disease and highlights the importance of recognizing aceruloplAsminemia as a genetic cause of diabetes and neurologic disease.
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23 References

Aceruloplasminemia: molecular characterization of this disorder of iron metabolism.

The identification of a genetic defect in the ceruloplasmin gene in a patient previously noted to have a total absence of circulating serum cerulplasmin in association with late-onset retinal and basal ganglia degeneration and identifies aceruloplasmemia as an autosomal recessive disorder of iron metabolism is reported.

A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans

The mutation in the Cp gene is associated with systemic hemosiderosis in humans because of a premature termination codon at the amino acid position 991 by defective splicing.

Hereditary ceruloplasmin deficiency with hemosiderosis: A clinicopathological study of a japanese family

Examination of the central nervous system revealed severe destruction of the basal ganglia and dentate nucleus, with considerable iron deposition in neuronal and glial cells, whereas the cerebral cortex showed mildIron deposition in glial Cells without neuronal involvement.

Hereditary caeruloplasmin deficiency, dementia and diabetes mellitus.

The absence of copper overload, and the linkage of the deficiency with chromosome 3q25, distinguish this condition from Wilson's disease.

The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene

The predicted functional properties of the pWD gene together with its strong homology to Mc1, genetic mapping data and identification of four independent disease–specific mutations, provide convincing evidence that pWD is the Wilson disease gene.

Hereditary hemochromatosis: A prevalent disorder of iron metabolism with an elusive etiology

Screening studies to detect hemochromatosis are most effectively accomplished by measurement of the serum iron and total iron binding capacity, and treatment is most effectively performed by frequent phlebotomy until body stores are empty and then 3 to 4 times yearly for life.

Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease.

The putative copper and ATP-binding domains of the human Menkes disease gene were used as probes to screen a human liver cDNA library at reduced stringency and suggest that this cDNA is a candidate gene for Wilson disease and that the protein encoded at this locus is a member of the P-type ATPase family.

The Wilson disease gene is a putative copper transporting P–type ATPase similar to the Menkes gene

It is shown that this sequence forms part of a P–type ATPase gene (referred to here as Wc1) that is very similar to MNK, with six putative metal binding regions similar to those found in prokaryotic heavy metal transporters.

Isolation and characterization of a processed gene for human ceruloplasmin.

The pseudogene that is identified seems to comprise the only sequence in the human genome that is closely related to the wild-type gene, and is mapped to human chromosome 8.

FAMILIAL HEMOCHROMATOSIS: CHARACTERISTICS OF THE PRE‐CIRRHOTIC STAGE IN A LARGE KINDRED

Using excess hepatic iron as a marker for inheritance of hemochromatosis, results of liver biopsies on 31 family members suggest an auto-somal dominant mode of inheritance with incomplete expressivity and a relationship between alcohol intake and excess liver iron.