Medical Knowledge Cockpit inclusion body myopathy

• Tight junction
  Homo sapiens (human) one gene

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HNRNPA1

• Mass spectrometry and EST-database searching allows characterization of the multi-protein spliceosome complex.
• Assignment of the human heterogeneous nuclear ribonucleoprotein A1 gene (HNRPA1) to chromosome 12q13.1 by cDNA competitive in situ hybridization
• Analysis of a high-throughput yeast two-hybrid system and its use to predict the function of intracellular proteins encoded within the human MHC class III region

VCP

• UBX domain proteins: major regulators of the AAA ATPase Cdc48/p97
• The general definition of the p97/valosin-containing protein (VCP)-interacting motif (VIM) delineates a new family of p97 cofactors
• The role of a novel p97/valosin-containing protein-interacting motif of gp78 in endoplasmic reticulum-associated degradation
• Identification of SVIP as an endogenous inhibitor of endoplasmic reticulum-associated degradation
• A membrane protein complex mediates retro-translocation from the ER lumen into the cytosol

• The structural and functional basis of the p97/valosin-containing protein (VCP)-interacting motif (VIM): mutually exclusive binding of cofactors to the N-terminal domain of p97
• A complex of mammalian ufd1 and npl4 links the AAA-ATPase, p97, to ubiquitin and nuclear transport pathways
• Control of p97 function by cofactor binding
• Emerging functions of the VCP/p97 AAA-ATPase in the ubiquitin system
• Cleaning up in the endoplasmic reticulum: ubiquitin in charge

GNE

• A bifunctional enzyme catalyzes the first two steps in N-acetylneuraminic acid biosynthesis of rat liver. Molecular cloning and functional expression of UDP-N-acetyl-glucosamine 2-epimerase/N-acetylmannosamine kinase

MYH2

• Type IIx myosin heavy chain transcripts are expressed in type IIb fibers of human skeletal muscle