Ontology highlight
ABSTRACT:
SUBMITTER: Martin DA
PROVIDER: S-EPMC16370 | biostudies-literature | 1999 Apr
REPOSITORIES: biostudies-literature
Martin D A DA Zheng L L Siegel R M RM Huang B B Fisher G H GH Wang J J Jackson C E CE Puck J M JM Dale J J Straus S E SE Peter M E ME Krammer P H PH Fesik S S Lenardo M J MJ
Proceedings of the National Academy of Sciences of the United States of America 19990401 8
Heterozygous mutations in the CD95 (APO-1/Fas) receptor occur in most individuals with autoimmune lymphoproliferative syndrome (ALPS) and dominantly interfere with apoptosis by an unknown mechanism. We show that local or global alterations in the structure of the cytoplasmic death domain from nine independent ALPS CD95 death-domain mutations result in a failure to bind the FADD/MORT1 signaling protein. Despite heterozygosity for the abnormal allele, lymphocytes from ALPS patients showed markedly ...[more]