M H Polymeropoulos

TL;DR: Transfection of NP-C fibroblasts with wild-type NPC1 cDNA resulted in correction of their excessive lysosomal storage of LDL cholesterol, thereby defining the critical role of NPC1 in regulation of intracellular cholesterol trafficking.

TL;DR: An antibody that recognizes the C-terminal 12 amino acids of the human alphasynuclein protein is developed and it is demonstrated that alpha synuclein is an abundant component of the Lewy bodies found within the degenerating neurons of patients with Parkinson's disease.

TL;DR: The hypothesis that heterozygous carriers of the gene for the Wolfram syndrome (WS) are predisposed to psychiatric illness was supported previously by the finding of an excess of psychiatric hospitalizations and suicides in WS blood relatives compared to spouse controls and is tested further.

TL;DR: Analysis of meiotic chromosomal breakpoint patterns among the affected individuals indicated that the NPC gene is pericentromerically localized on human chromosome 18.

TL;DR: It is proposed that aberrant interaction of mutant huntingtin with other proteins, including alpha-synuclein, may influence disease progression and be used as a marker for huntingtin polyglutamine aggregates in both human and mice.