Novel HIF2A mutations disrupt oxygen sensing, leading to polycythemia, paragangliomas, and somatostatinomas Blood, Mar 2013; 121: 2563 - 2566.
[anti-HA]
Regulation of the PI3-K/Akt Survival Pathway in the Rat Endometrium Biol Reprod, Mar 2013; 88: 79.
[Akt3]
RNA elements directing in vivo assembly of the 7SK/MePCE/Larp7 transcriptional regulatory snRNP Nucleic Acids Res., Mar 2013; 10.1093/nar/gkt159.
[LA]
Ruxolitinib as potential targeted therapy for patients with JAK2 rearrangements Haematologica, Mar 2013; 98: 404 - 408.
[JAK2]
The lysosomal integral membrane protein 2 (LIMP2) is a heavily glycosylated type III transmembrane protein, the majority of which exists in the lumen of the lysosome and a cytoplasmic domain of approximately 20 amino acids. A deficiency of LIMP2 in mice causes uretic pelvic junction obstruction, deafness, and peripheral neuropathy associated with impaired vesicular trafficking and distribution of apically expressed proteins. More recently, LIMP2 was shown to act as a receptor to bind b-glucocerebrosidase, the enzyme defective in Gaucher disease, a lysosomal storage disorder. LIMP2-deficient mice showed missorted as well as secreted b-glucocerebrosidase, suggesting that LIMP2 also functions as the mannose-6-phosphate-independent trafficking receptor. Despite its predicted molecular weight, LIMP2 runs at approximately 80 – 85 kDa in SDS-PAGE.
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