{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Madhivanan K"],"funding":["Clinical Translational Science Institute","NIDDK NIH HHS","National Institutes of Health"],"pagination":["1700-1715"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7322567"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["29(10)"],"pubmed_abstract":["Lowe syndrome (LS) is an X-linked developmental disease characterized by cognitive deficiencies, bilateral congenital cataracts and renal dysfunction. Unfortunately, this disease leads to the early death of affected children often due to kidney failure. Although this condition was first described in the early 1950s and the affected gene (OCRL1) was identified in the early 1990s, its pathophysiological mechanism is not fully understood and there is no LS-specific cure available to patients. Here we report two important signaling pathways affected in LS patient cells. While RhoGTPase signaling abnormalities led to adhesion and spreading defects as compared to normal controls, PI3K/mTOR hyperactivation interfered with primary cilia assembly (scenario also observed in other ciliopathies with c"],"journal":["Human molecular genetics"],"pubmed_title":["Lowe syndrome patient cells display mTOR- and RhoGTPase-dependent phenotypes alleviated by rapamycin and statins."],"pmcid":["PMC7322567"],"funding_grant_id":["1R01DK109398–01","CTSI 106564/8000063783","P30 DK079312","R01 DK109398"],"pubmed_authors":["Aguilar RC","Hsieh WC","Bacallao RL","Hanna CB","Ramadesikan S","Madhivanan K","Aguilar MC"],"additional_accession":[]},"is_claimable":false,"name":"Lowe syndrome patient cells display mTOR- and RhoGTPase-dependent phenotypes alleviated by rapamycin and statins.","description":"Lowe syndrome (LS) is an X-linked developmental disease characterized by cognitive deficiencies, bilateral congenital cataracts and renal dysfunction. Unfortunately, this disease leads to the early death of affected children often due to kidney failure. Although this condition was first described in the early 1950s and the affected gene (OCRL1) was identified in the early 1990s, its pathophysiological mechanism is not fully understood and there is no LS-specific cure available to patients. Here we report two important signaling pathways affected in LS patient cells. While RhoGTPase signaling abnormalities led to adhesion and spreading defects as compared to normal controls, PI3K/mTOR hyperactivation interfered with primary cilia assembly (scenario also observed in other ciliopathies with c","dates":{"release":"2020-01-01T00:00:00Z","publication":"2020 Jun","modification":"2026-04-29T00:03:19.69Z","creation":"2022-02-10T16:19:02.318Z"},"accession":"S-EPMC7322567","cross_references":{"pubmed":["32391547"],"doi":["10.1093/hmg/ddaa086"]}}