Proteomic and Transcriptomic Landscapes of Alstrom and Bardet-Biedl Syndromes.

ABSTRACT: Alström syndrome (ALMS) and Bardet-Biedl syndrome (BBS) are rare genetic diseases with a number of common clinical features ranging from early-childhood obesity and retinal degeneration. ALMS and BBS belong to the ciliopathies, which are known to have the expression products of genes, encoding them as cilia-localized proteins in multiple target organs. The aim of this study was to perform transcriptomic and proteomic analysis on cellular models of ALMS and BBS syndromes to identify common and distinct pathological mechanisms present in both syndromes. For this purpose, epithelial cells were isolated from the urine of patients and healthy subjects, which were then cultured and reprogrammed into induced pluripotent stem (iPS) cells. The pathways of genes associated with the metabolism of lip

SUBMITTER: Smyczynska U 

PROVIDER: S-EPMC9777683 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature