'Early in development, a part of the embryo is set aside to become the germ cell lineage that will ultimately differentiate to form sperm and eggs and transmit genetic information to the next generation. Men with deletions encompassing the Y-chromosome DAZ genes have few or no germ cells but are ... More
Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation.
AuthorsGoodchild RE, Dauer WT,
JournalProc Natl Acad Sci U S A
PubMed ID14711988
'Primary dystonia is a disease characterized by involuntary twisting movements caused by CNS dysfunction without underlying histopathology. DYT1 dystonia is a form of primary dystonia caused by an in-frame GAG deletion (DeltaE302/3) in the TOR1A gene that encodes the endoplasmic reticulum luminal protein torsinA. We show that torsinA is also ... More
Functional analysis of tryptophans alpha 62 and beta 120 on HLA-DM.
'In the endocytic pathway of antigen-presenting cells, HLA-DM catalyzes the exchange between class II-associated invariant chain peptide (CLIP) and antigenic peptides onto major histocompatibility complex class II molecules. At low pH of lysosomal compartments, both HLA-DM and HLA-DR undergo conformational changes, and it was recently postulated that two partially exposed ... More
Thyrostimulin, a heterodimer of two new human glycoprotein hormone subunits, activates the thyroid-stimulating hormone receptor.
Human thyrotropin (TSH), luteotropin (LH), follitropin (FSH), and chorionic gonadotropin are members of the heterodimeric glycoprotein hormone family. The common alpha subunit forms noncovalent heterodimers with different beta subunits. Two novel human glycoprotein hormonelike genes, alpha2 (A2) and beta5 (B5), recently have been identified. Using a yeast two-hybrid assay, the ... More
Modulation of polyglutamine-induced cell death by genes identified by expression profiling.
Authors Kita Hiroko; Carmichael Jenny; Swartz Jina; Muro Shizuko; Wyttenbach Andreas; Matsubara Kenichi; Rubinsztein David C; Kato Kikuya;
JournalHum Mol Genet
PubMed ID12217956
The majority of triplet-repeat diseases are caused by mutated genes with an extended polyglutamine tract, exemplified by Huntington's disease (HD). In order to model HD pathogenesis in a controlled system, we developed stable PC12 cell lines that express exon 1 fragments of the huntingtin gene with 23 or 74 polyglutamines ... More
Photolabeling of human and murine multidrug resistance protein 1 with the high affinity inhibitor [125I]LY475776 and azidophenacyl-[35S]glutathione.
Authors Qian Yue-Ming; Grant Caroline E; Westlake Christopher J; Zhang Da-Wei; Lander Peter A; Shepard Robert L; Dantzig Anne H; Cole Susan P C; Deeley Roger G;
JournalJ Biol Chem
PubMed ID12138119
Multidrug resistance protein 1 (MRP1/ABCC1) is an ATP-dependent transporter of structurally diverse organic anion conjugates. The protein also actively transports a number of non-conjugated chemotherapeutic drugs and certain anionic conjugates by a presently poorly understood GSH-dependent mechanism. LY475776is a newly developed (125)I-labeled azido tricyclic isoxazole that binds toMRP1 with high ... More