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The glucocerebrosidase D409H mutation in Gaucher disease.
Pasmanik-Chor M, Laadan S, Elroy-Stein O, Zimran A, Abrahamov A, Gatt S, Horowitz M. Pasmanik-Chor M, et al. Biochem Mol Med. 1996 Dec;59(2):125-33. doi: 10.1006/bmme.1996.0077. Biochem Mol Med. 1996. PMID: 8986634
Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population.
Horowitz M, Pasmanik-Chor M, Borochowitz Z, Falik-Zaccai T, Heldmann K, Carmi R, Parvari R, Beit-Or H, Goldman B, Peleg L, Levy-Lahad E, Renbaum P, Legum S, Shomrat R, Yeger H, Benbenisti D, Navon R, Dror V, Shohat M, Magal N, Navot N, Eyal N. Horowitz M, et al. Hum Mutat. 1998;12(4):240-4. doi: 10.1002/(SICI)1098-1004(1998)12:4<240::AID-HUMU4>3.0.CO;2-J. Hum Mutat. 1998. PMID: 9744474
Importance of splicing for prosaposin sorting.
Madar-Shapiro L, Pasmanik-Chor M, Vaccaro AM, Dinur T, Dagan A, Gatt S, Horowitz M. Madar-Shapiro L, et al. Biochem J. 1999 Feb 1;337 ( Pt 3)(Pt 3):433-43. Biochem J. 1999. PMID: 9895286 Free PMC article.
Recycling to the plasma membrane is delayed in EHD1 knockout mice.
Rapaport D, Auerbach W, Naslavsky N, Pasmanik-Chor M, Galperin E, Fein A, Caplan S, Joyner AL, Horowitz M. Rapaport D, et al. Traffic. 2006 Jan;7(1):52-60. doi: 10.1111/j.1600-0854.2005.00359.x. Traffic. 2006. PMID: 16445686 Free article.
151 results