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Skip to Search Results- 2Lohmeier, Elke Monika, 1955-
- 2Veldhoen, Richard
- 1ALSHUMAIMERI, NADA A.
- 1Acevedo Morantes, Claudia Y
- 1Aderibigbe, Ayodeji O.
- 1Ahsan, Irfan.
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Fall 2015
Congenital hereditary endothelial corneal dystrophy type 2 (CHED2), Harboyan Syndrome (HS) and Fuchs endothelial corneal dystrophy (FECD) are caused by SLC4A11 mutations. The majority of SLC4A11 point mutations cause SLC4A11 misfolding and retention in the endoplasmic reticulum (ER). This impairs...
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SLC4A11 in Blinding Endothelial Corneal Dystrophies: Characterization, Molecular Defect and Potential Therapeutic Strategy
DownloadFall 2019
Endothelial Corneal Dystrophies (ECD), genetic blinding diseases with a heterogeneous pathophysiology, are the leading cause of endothelial keratopathy (corneal transplants). Patients manifest symptoms, including corneal edema with increased corneal thickness and loss of corneal endothelial cells...
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Fall 2018
Protein kinases are critical players in cell signaling processes and their activity leads to the phosphorylation of substrates, often regulating enzymatic activity. 518 protein kinases are encoded in the human genome, however, there are many features within the catalytic domain of these proteins...
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Fall 2020
Tauopathies are a class of neurological disorders associated with the aggregation of the tau protein into neurofibrillary tangles. The most prominent tauopathy is Alzheimer’s disease (AD), which presents as two forms: early onset (familial, fAD) and late onset (sporadic, sAD). sAD does not have a...