Shinsei Minoshima

TL;DR: The results of an international collaboration to produce and make freely available a draft sequence of the human genome are reported and an initial analysis is presented, describing some of the insights that can be gleaned from the sequence.

TL;DR: Mutations in the newly identified gene appear to be responsible for the pathogenesis of Autosomal recessive juvenile parkinsonism, and the protein product is named ‘Parkin’.

TL;DR: The findings indicate that accumulation of proteins that have yet to be identified causes a selective neural cell death without formation of Lewy bodies, and should enhance the exploration of the molecular mechanisms of neurodegeneration in Parkinson disease as well as in other Neurodegenerative diseases that are characterized by involvement of abnormal protein ubiquitination.

TL;DR: In this article, the authors reported the sequence and gene catalogue of the long arm of chromosome 21 and sequenced 33,546,361 base pairs (bp) of DNA with very high accuracy, the largest contig being 25,491,867 bp.

TL;DR: Results indicate that this gene is responsible for the pathogenesis of APECED, a autosomal-recessive disorder that maps to human chromosome 21q22.3 and should facilitate the genetic diagnosis and potential treatment of the disease and enhance the general understanding of the mechanisms underlying autoimmune diseases.