Membrane defects and genetic redundancy: Are we at a turning point for DYT1 dystonia?
Sign Up to like & getrecommendations! Published in 2017 at "Movement Disorders"
DOI: 10.1002/mds.26880
Abstract: Heterozygosity for a 3‐base pair deletion (ΔGAG) in TOR1A/torsinA is one of the most common causes of hereditary dystonia. In this review, we highlight current understanding of how this mutation causes disease from research spanning… read more here.
Keywords: gag; defects genetic; dystonia; genetic redundancy ... See more keywords
Choroidal neovascularization secondary to pathological myopia—macular Bruch membrane defects as prognostic factor to anti-VEGF treatment
Sign Up to like & getrecommendations! Published in 2021 at "Graefe's Archive for Clinical and Experimental Ophthalmology"
DOI: 10.1007/s00417-021-05142-y
Abstract: To evaluate the prevalence and visual outcomes of macular Bruch membrane (BM) defects in patients treated with anti-vascular endothelial growth factors (VEGF) for choroidal neovascularization secondary to pathological myopia (mCNV). Single-center retrospective observational case series… read more here.
Keywords: anti vegf; macular bruch; choroidal neovascularization; bruch membrane ... See more keywords
Membrane Defects Recruit C-Terminus of Complexin to Synaptic Vesicles
Sign Up to like & getrecommendations! Published in 2017 at "Biophysical Journal"
DOI: 10.1016/j.bpj.2016.11.2138
Abstract: Single vesicle-vesicle fusion assays based on FRET of lipid or content mixing [1-3] are widely used to investigate complexin on vesicle docking [4] and fast fusion process [5]. Most recently, we discovered the important role… read more here.
Keywords: synaptic vesicles; diao; complexin; membrane defects ... See more keywords
Macular Bruch's membrane defects and other myopic lesions in high myopia.
Sign Up to like & getrecommendations! Published in 2022 at "International journal of ophthalmology"
DOI: 10.18240/ijo.2022.03.15
Abstract: AIM To compare the ocular fundus features of highly myopic eyes with and without macular Bruch's membrane (BM) defects and investigate the associations between macular BM defects and other myopic lesions. METHODS This retrospective, observational… read more here.
Keywords: macular defects; myopic lesions; bruch membrane; defects myopic ... See more keywords
Basement Membrane Defects in Genetic Kidney Diseases
Sign Up to like & getrecommendations! Published in 2018 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2018.00011
Abstract: The glomerular basement membrane (GBM) is a specialized structure with a significant role in maintaining the glomerular filtration barrier. This GBM is formed from the fusion of two basement membranes during development and its function… read more here.
Keywords: gbm; basement membrane; disease; glomerular disease ... See more keywords