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PLEKHM1 regulates Salmonella-containing vacuole biogenesis and infection.
McEwan DG, Richter B, Claudi B, Wigge C, Wild P, Farhan H, McGourty K, Coxon FP, Franz-Wachtel M, Perdu B, Akutsu M, Habermann A, Kirchof A, Helfrich MH, Odgren PR, Van Hul W, Frangakis AS, Rajalingam K, Macek B, Holden DW, Bumann D, Dikic I. McEwan DG, et al. Among authors: van hul w. Cell Host Microbe. 2015 Jan 14;17(1):58-71. doi: 10.1016/j.chom.2014.11.011. Epub 2014 Dec 11. Cell Host Microbe. 2015. PMID: 25500191 Free article.
The osteopetrotic mutation toothless (tl) is a loss-of-function frameshift mutation in the rat Csf1 gene: Evidence of a crucial role for CSF-1 in osteoclastogenesis and endochondral ossification.
Van Wesenbeeck L, Odgren PR, MacKay CA, D'Angelo M, Safadi FF, Popoff SN, Van Hul W, Marks SC Jr. Van Wesenbeeck L, et al. Among authors: van hul w. Proc Natl Acad Sci U S A. 2002 Oct 29;99(22):14303-8. doi: 10.1073/pnas.202332999. Epub 2002 Oct 11. Proc Natl Acad Sci U S A. 2002. PMID: 12379742 Free PMC article.
Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans.
Van Wesenbeeck L, Odgren PR, Coxon FP, Frattini A, Moens P, Perdu B, MacKay CA, Van Hul E, Timmermans JP, Vanhoenacker F, Jacobs R, Peruzzi B, Teti A, Helfrich MH, Rogers MJ, Villa A, Van Hul W. Van Wesenbeeck L, et al. Among authors: van hul e, van hul w. J Clin Invest. 2007 Apr;117(4):919-30. doi: 10.1172/JCI30328. J Clin Invest. 2007. PMID: 17404618 Free PMC article.
A new heterozygous mutation (R714C) of the osteopetrosis gene, pleckstrin homolog domain containing family M (with run domain) member 1 (PLEKHM1), impairs vesicular acidification and increases TRACP secretion in osteoclasts.
Del Fattore A, Fornari R, Van Wesenbeeck L, de Freitas F, Timmermans JP, Peruzzi B, Cappariello A, Rucci N, Spera G, Helfrich MH, Van Hul W, Migliaccio S, Teti A. Del Fattore A, et al. Among authors: van wesenbeeck l, van hul w. J Bone Miner Res. 2008 Mar;23(3):380-91. doi: 10.1359/jbmr.071107. J Bone Miner Res. 2008. PMID: 17997709 Free article.
Osteopathia striata with cranial sclerosis owing to WTX gene defect.
Perdu B, de Freitas F, Frints SG, Schouten M, Schrander-Stumpel C, Barbosa M, Pinto-Basto J, Reis-Lima M, de Vernejoul MC, Becker K, Freckmann ML, Keymolen K, Haan E, Savarirayan R, Koenig R, Zabel B, Vanhoenacker FM, Van Hul W. Perdu B, et al. Among authors: van hul w. J Bone Miner Res. 2010 Jan;25(1):82-90. doi: 10.1359/jbmr.090707. J Bone Miner Res. 2010. PMID: 20209645 Free article.
253 results