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Debora Rapaport

Explore the profile of Debora Rapaport including associated specialties, affiliations and a list of published articles. Areas
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Articles 16
Citations 628
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Recent Articles
1.
Maor G, Rapaport D, Horowitz M
Hum Mol Genet . 2019 Jan; 28(11):1768-1781. PMID: 30615125
Gaucher disease (GD) patients and carriers of GD mutations have a higher propensity to develop Parkinson's disease (PD) in comparison to the non-GD population. This implies that mutant GBA1 allele...
2.
Rapaport D, Fichtman B, Weidberg H, Sprecher E, Horowitz M
Biochem Biophys Res Commun . 2018 Feb; 497(2):605-611. PMID: 29454964
Intracellular membrane fusion depends on the presence of specific mediators, the vesicle (v-) and the target (t-) SNAREs (Soluble N-ethylmaleimide-sensitive factor, NSF, attachment protein SNAP receptors), whose interaction brings apposing...
3.
Schiller S, Seebode C, Wieser G, Goebbels S, Ruhwedel T, Horowitz M, et al.
Exp Dermatol . 2016 Apr; 25(8):647-9. PMID: 27095090
No abstract available.
4.
Bendikov-Bar I, Rapaport D, Larisch S, Horowitz M
Orphanet J Rare Dis . 2014 Jun; 9:86. PMID: 24935484
Background: Parkinson's disease (PD) is a movement neurodegenerative disorder characterized by death of dopaminergic neurons in the substantia nigra pars compacta of the brain that leads to movement impairments including...
5.
Samuelov L, Sarig O, Harmon R, Rapaport D, Ishida-Yamamoto A, Isakov O, et al.
Nat Genet . 2013 Aug; 45(10):1244-1248. PMID: 23974871
The relative contribution of immunological dysregulation and impaired epithelial barrier function to allergic diseases is still a matter of debate. Here we describe a new syndrome featuring severe dermatitis, multiple...
6.
Sarig O, Nahum S, Rapaport D, Ishida-Yamamoto A, Fuchs-Telem D, Qiaoli L, et al.
Am J Hum Genet . 2012 Jul; 91(2):337-42. PMID: 22840363
Disproportionate short stature refers to a heterogeneous group of hereditary disorders that are classified according to their mode of inheritance, clinical skeletal and nonskeletal manifestations, and radiological characteristics. In the...
7.
Benjamin S, Weidberg H, Rapaport D, Pekar O, Nudelman M, Segal D, et al.
Biochem J . 2011 Jul; 439(3):433-42. PMID: 21756249
EHDs [EH (Eps15 homology)-domain-containing proteins] participate in different stages of endocytosis. EHD2 is a plasma-membrane-associated EHD which regulates trafficking from the plasma membrane and recycling. EHD2 has a role in...
8.
Ron I, Rapaport D, Horowitz M
Hum Mol Genet . 2010 Jul; 19(19):3771-81. PMID: 20643691
Gaucher disease (GD), a sphingolipidosis characterized by impaired activity of the lysosomal enzyme glucocerebrosidase (GCase), results from mutations in the GCase-encoding gene, GBA. We have shown that mutant GCase variants...
9.
Rapaport D, Lugassy Y, Sprecher E, Horowitz M
PLoS One . 2010 Mar; 5(3):e9759. PMID: 20305790
Intracellular membrane trafficking depends on the ordered formation and consumption of transport intermediates and requires that membranes fuse with each other in a tightly regulated and highly specific manner. Membrane...
10.
Basel-Vanagaite L, Sarig O, Hershkovitz D, Fuchs-Telem D, Rapaport D, Gat A, et al.
Am J Hum Genet . 2009 Jul; 85(2):254-63. PMID: 19631308
Inherited disorders of elastic tissue represent a complex and heterogeneous group of diseases, characterized often by sagging skin and occasionally by life-threatening visceral complications. In the present study, we report...