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https://scholarbank.nus.edu.sg/handle/10635/138910
DC Field | Value | |
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dc.title | LOSS-OF-FUNCTION MUTATIONS IN CARBOXYPEPTIDASE D CAUSE A NEW SYNDROME WITH LYMPHEDEMA AND SENSORINEURAL HEARING LOSS | |
dc.contributor.author | LAUPHEIMER SIMONE | |
dc.date.accessioned | 2018-02-15T18:00:17Z | |
dc.date.available | 2018-02-15T18:00:17Z | |
dc.date.issued | 2017-08-03 | |
dc.identifier.citation | LAUPHEIMER SIMONE (2017-08-03). LOSS-OF-FUNCTION MUTATIONS IN CARBOXYPEPTIDASE D CAUSE A NEW SYNDROME WITH LYMPHEDEMA AND SENSORINEURAL HEARING LOSS. ScholarBank@NUS Repository. | |
dc.identifier.uri | http://scholarbank.nus.edu.sg/handle/10635/138910 | |
dc.description.abstract | Lymphedema is the consequence of inefficient uptake and/or reduced lymph flow, which leads to the accumulation of high-protein fluid beneath the skin and chronic swelling of extremities. Here, we report three individuals diagnosed with a new recessive syndrome presenting with progressive lymphedema and sensorineural hearing loss (SNHL). Whole-exome sequencing identified causative mutations, including a protein-null allele, in CPD which encodes for Carboxypeptidase D. We successfully established cpda knock-out zebrafish lines, which revealed severe developmental defects in the lymphatic system. Resulting in the development of lymphedema, successfully modelling the patient phenotype. CPD is a circulating protease which hydrolyses proteins with a lysine or arginine at their C-terminus. To date, no endogenous substrates for CPD have been identified. Using patient-derived primary cells and our zebrafish knockout animals, we aim to understand the pathogenesis of this new disease to develop CPD as a potential therapeutic for the treatment of lymphedema. | |
dc.language.iso | en | |
dc.subject | CPD, Lymphedema,human patients, cpda, zebrafish, knockout | |
dc.type | Thesis | |
dc.contributor.department | PAEDIATRICS | |
dc.contributor.supervisor | Bruno Reversade | |
dc.description.degree | Ph.D | |
dc.description.degreeconferred | DOCTOR OF PHILOSOPHY (SOM) | |
Appears in Collections: | Ph.D Theses (Open) |
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LaupheimerSL.Thesis.pdf | 7.68 MB | Adobe PDF | OPEN | None | View/Download |
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