| http://purl.uniprot.org/citations/8717042 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8717042 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8717042 | http://www.w3.org/2000/01/rdf-schema#comment | "Vesicular transport to and from the lysosome and late endosome is defective in patients with Chediak-Higashi syndrome (CHS) and in mutant beige (bg) mice. CHS and bg cells have giant, perinuclear vesicles with characteristics of late endosomes and lysosomes that arise from dysregulated homotypic fusion. CHS and bg lysosomes also exhibit compartmental missorting of proteins, such as elastase, glucuronidase and cathepsin G. Lyst, a candidate gene for bg, was identified by direct complementary DNA selection from a yeast artificial chromosome (YAC) clone containing a 650-kilobase segment of the bg-critical region on mouse chromosome 13. Lyst is disrupted by a 5-kilobase deletion in bg mice, and Lyst messenger RNA is markedly reduced in bg homozygotes. The homologous human gene, LYST, is highly conserved with mouse Lyst, and contains a frame-shift mutation at nucleotides 117-118 of the coding domain in a CHS patient. Thus bg mice and human CHS patients have homologous disorders associated with Lyst mutations. Lyst encodes a protein with a carboxy-terminal prenylation motif and multiple potential phosphorylation sites. Lyst protein is predicted to form extended helical domains, and has a region of sequence similar to stathmin, a coiled-coil phosphoprotein thought to act as a relay integrating cellular signal response coupling."xsd:string |
| http://purl.uniprot.org/citations/8717042 | http://purl.org/dc/terms/identifier | "doi:10.1038/382262a0"xsd:string |
| http://purl.uniprot.org/citations/8717042 | http://purl.org/dc/terms/identifier | "doi:10.1038/382262a0"xsd:string |
| http://purl.uniprot.org/citations/8717042 | http://purl.uniprot.org/core/author | "Detter J.C."xsd:string |
| http://purl.uniprot.org/citations/8717042 | http://purl.uniprot.org/core/author | "Detter J.C."xsd:string |
| http://purl.uniprot.org/citations/8717042 | http://purl.uniprot.org/core/author | "Lovett M."xsd:string |
| http://purl.uniprot.org/citations/8717042 | http://purl.uniprot.org/core/author | "Lovett M."xsd:string |
| http://purl.uniprot.org/citations/8717042 | http://purl.uniprot.org/core/author | "Chotai D."xsd:string |
| http://purl.uniprot.org/citations/8717042 | http://purl.uniprot.org/core/author | "Chotai D."xsd:string |
| http://purl.uniprot.org/citations/8717042 | http://purl.uniprot.org/core/author | "Kingsmore S.F."xsd:string |
| http://purl.uniprot.org/citations/8717042 | http://purl.uniprot.org/core/author | "Kingsmore S.F."xsd:string |
| http://purl.uniprot.org/citations/8717042 | http://purl.uniprot.org/core/author | "Barbosa M.D.F.S."xsd:string |
| http://purl.uniprot.org/citations/8717042 | http://purl.uniprot.org/core/author | "Barbosa M.D.F.S."xsd:string |
| http://purl.uniprot.org/citations/8717042 | http://purl.uniprot.org/core/author | "Tchernev V.T."xsd:string |
| http://purl.uniprot.org/citations/8717042 | http://purl.uniprot.org/core/author | "Tchernev V.T."xsd:string |
| http://purl.uniprot.org/citations/8717042 | http://purl.uniprot.org/core/author | "Ashley J.A."xsd:string |
| http://purl.uniprot.org/citations/8717042 | http://purl.uniprot.org/core/author | "Ashley J.A."xsd:string |
| http://purl.uniprot.org/citations/8717042 | http://purl.uniprot.org/core/author | "Brandt S.J."xsd:string |
| http://purl.uniprot.org/citations/8717042 | http://purl.uniprot.org/core/author | "Brandt S.J."xsd:string |
| http://purl.uniprot.org/citations/8717042 | http://purl.uniprot.org/core/author | "Blaydes S.M."xsd:string |
| http://purl.uniprot.org/citations/8717042 | http://purl.uniprot.org/core/author | "Blaydes S.M."xsd:string |
| http://purl.uniprot.org/citations/8717042 | http://purl.uniprot.org/core/author | "Hodgman C."xsd:string |
| http://purl.uniprot.org/citations/8717042 | http://purl.uniprot.org/core/author | "Hodgman C."xsd:string |