A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease

Article Abstract:

Genomic DNA has been studied in 40 examples of autopsy-confirmed early-onset Alzheimer disease, unselected for family history, and a single mutation in the presenilin-1 gene was common to two cases. The mutation involves deletion of a G from the splice-donor consensus sequence of intron 4, associated with shifted reading frames and premature-termination codons. Haploinsufficiency probably resulted from the mutation.

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Mutations of presenilin genes in dilated cardiomyopathy and heart failure

Article Abstract:

The roles of presenilins mutations on dilated cardiomyopathy (DCM) and heart failure are examined. The results have shown that presenilin 1 (PSEN1) and presenilin 2 (PSEN2) mutations are associated with DCM and heart failure and have implicated novel implications of myocardial disease.

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Human RFT1 deficiency leads to a disorder of N-linked glycosylation

Article Abstract:

The functional orthology, as well as patholegic significance of the RFT1 protein present in yeast and human bodies are studied. The RFT1 deficiency is found to lead to profound glycosylation disorder in humans.

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