Affiliation: Max Planck Institute for Molecular Genetics
- The Opitz syndrome gene product, MID1, associates with microtubulesS Schweiger
Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany
Proc Natl Acad Sci U S A 96:2794-9. 1999..These data give an idea of the possible molecular pathomechanism underlying the OS phenotype...
- AIRE encodes a nuclear protein co-localizing with cytoskeletal filaments: altered sub-cellular distribution of mutants lacking the PHD zinc fingersC Rinderle
Max Planck Institute for Molecular Genetics, Ihnestrasse 73, D 14195 Berlin, Germany
Hum Mol Genet 8:277-90. 1999..N-terminal AIRE fragments deleted for the PHD domain show altered nuclear localization, suggesting that the APECED mutations may elicit their primary effects in the nucleus...
- Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22N A Quaderi
Telethon Institute of Genetics and Medicine TIGEM, Milan, Italy
Nat Genet 17:285-91. 1997..The association of MID1 with OS suggests an important role for this gene in midline development...
- MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradationA Trockenbacher
Institute of Biochemistry, Peter Mayr Strasse 1a, 6020 Innsbruck, Austria
Nat Genet 29:287-94. 2001..Elevated PP2Ac causes hypophosphorylation of MAPs, a pathological mechanism that is consistent with the OS phenotype...
- DXS6673E encodes a predominantly nuclear protein, and its mouse ortholog DXHXS6673E is alternatively spliced in a developmental- and tissue-specific mannerM P Scheer
Max Planck Institut fur Molekulare Genetik, Ihnestrasse 73, Berlin Dahlem, D 14195, Germany
Genomics 63:123-32. 2000..Three distinct protein distribution patterns in COS-7 cells could be identified...