Calcium homeostasis • molecular diagnostics • endocrine • functional analysis
My research focuses on the molecular genetics of mineral metabolism disorders with a focus on functional analysis of inherited mutations in genes controlling blood calcium and skeletal homeostasis.
Puzhko, S., Goodyer, C.G., Kerachian, M.A., Canaff, L., Misra, M., Jüppner, H., Bastepe, M., Hendy, G.N. Parathyroid hormone signaling via Gas is selectively inhibited by an NH2-terminally truncated Gas: implications for pseudohypoparathyroidism. J. Bone Miner. Res. 26:2473-2485, 2011.
Canaff, L., Vanbellinghen, J-F., Kanazawa, I., Kwak, H., Garfield, N., Vautour, L., Hendy, G.N. Menin missense mutants encoded by the MEN1 gene that are targeted to the proteasome: restoration of expression and activity by CHIP siRNA. J. Clin. Endocrinol. Metab. 97:E282-E291, 2012.
Canaff, L., Vanbellinghen, J-F., Kaji, H., Goltzman, D., Hendy, G.N. Impaired transforming growth factor-beta (TGF-b) transcriptional activity and cell proliferation control of a menin in-frame deletion mutant associated with Multiple Endocrine Neoplasia type 1 (MEN1). J. Biol. Chem. 287:8584-8597, 2012.
Hendy, G.N., Canaff, L., Cole, D.E.C. The CASR gene: Alternative splicing and transcriptional control, and calcium-sensing receptor (CaSR) protein: Structure and ligand binding sites. Best Pract Res Clin Endocrinol Metab 27: 285-301, 2013
Hendy, G.N., Cole, D.E.C. Invited Editorial. Ruling in a suspect: the role of AP2S1 mutations in familial hypocalciuric hypercalcemia type 3. J. Clin. Endocrinol. Metab. In press. 2013.