Ontology highlight
ABSTRACT:
INSTRUMENT(S): Q Exactive HF-X, Orbitrap Exploris 480
ORGANISM(S): Homo Sapiens (human)
SUBMITTER: Johannes Hevler
LAB HEAD: Albert J. R. Heck
PROVIDER: PXD028313 | Pride | 2022-02-21
REPOSITORIES: Pride
Harding Rachel J RJ Deme Justin C JC Hevler Johannes F JF Tamara Sem S Lemak Alexander A Cantle Jeffrey P JP Szewczyk Magdalena M MM Begeja Nola N Goss Siobhan S Zuo Xiaobing X Loppnau Peter P Seitova Alma A Hutchinson Ashley A Fan Lixin L Truant Ray R Schapira Matthieu M Carroll Jeffrey B JB Heck Albert J R AJR Lea Susan M SM Arrowsmith Cheryl H CH
Communications biology 20211208 1
Huntington's disease results from expansion of a glutamine-coding CAG tract in the huntingtin (HTT) gene, producing an aberrantly functioning form of HTT. Both wildtype and disease-state HTT form a hetero-dimer with HAP40 of unknown functional relevance. We demonstrate in vivo and in cell models that HTT and HAP40 cellular abundance are coupled. Integrating data from a 2.6 Å cryo-electron microscopy structure, cross-linking mass spectrometry, small-angle X-ray scattering, and modeling, we provid ...[more]