Publications by authors named "Keith Philibert"

The neuropeptide kisspeptin (Kiss1) is integral to the advent of puberty and the generation of cyclical LH surges. Although many complex actions of Kiss1 are known, the mechanisms governing the processing/regulation of this peptide have not been unveiled. The metallo enzyme, endopeptidase 24.

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Currently, there are very limited pharmaceutical interventions for Alzheimer's disease (AD) to alleviate the amyloid burden implicated in the pathophysiology of the disease. Alzheimer's disease is characterized immunohistologically by the accumulation of senile plaques in the brain with afflicted patients progressively losing short-term memory and, ultimately, cognition. Although significant improvements in clinical diagnosis and care for AD patients have been made, effective treatments for this devastating disease remain elusive.

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Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH) is an autosomal-dominant syndrome characterized by bone dysplasia, myopathy, and bone cancer. We previously mapped the DMS-MFH tumor-suppressing-gene locus to chromosomal region 9p21-22 but failed to identify mutations in known genes in this region. We now demonstrate that DMS-MFH results from mutations in the most proximal of three previously uncharacterized terminal exons of the gene encoding methylthioadenosine phosphorylase, MTAP.

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Article Synopsis
  • Neurofibrillary tangles, primarily made up of the Tau protein, are a key feature in Alzheimer's disease and other related disorders; however, these tangles form after some early toxic Tau aggregates.
  • Research using a special technique to study Tau interactions found that dimer formation (pairs of Tau proteins) is an early step in the aggregation process, leading to larger toxic aggregates.
  • A new monoclonal antibody was developed to specifically target these Tau dimers and small aggregates, which are significantly increased in Alzheimer's disease and may play a role in the early stages of neurodegeneration.
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