A comparison of splicing assays to detect an intronic variant of the OCRL gene in Lowe syndrome.
Sign Up to like & getrecommendations! Published in 2017 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2017.08.001
Abstract: Lowe syndrome is an X-linked inherited disorder diagnosed by congenital cataracts, intellectual impairment, and renal tubular dysfunction. It is caused by pathogenic variants of the oculocerebrorenal syndrome of Lowe gene (OCRL), of which more than… read more here.
Keywords: ocrl; variant; comparison splicing; intronic variant ... See more keywords
Insights into the Effect of Lowe Syndrome-Causing Mutation p.Asn591Lys of OCRL-1 through Protein-Protein Interaction Networks and Molecular Dynamics Simulations
Sign Up to like & getrecommendations! Published in 2020 at "Journal of chemical information and modeling"
DOI: 10.1021/acs.jcim.9b01077
Abstract: Inositol polyphosphate 5-phosphatase (OCRL-1) participates in the regulation of multiple cellular processes, through the conversion of phosphatidylinositol 4,5-phosphate to phosphatidylinositol 4-phosphate. Mutations in this protein are related to Lowe Syndrome and Dent-2 disease. In this… read more here.
Keywords: molecular dynamics; mutation asn591lys; lowe syndrome; interaction ... See more keywords
Effects of Proximal Tubule Shortening on Protein Excretion in a Lowe Syndrome Model.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of the American Society of Nephrology : JASN"
DOI: 10.1681/asn.2019020125
Abstract: BACKGROUND Lowe syndrome (LS) is an X-linked recessive disorder caused by mutations in OCRL, which encodes the enzyme OCRL. Symptoms of LS include proximal tubule (PT) dysfunction typically characterized by low molecular weight proteinuria, renal… read more here.
Keywords: proximal tubule; ocrl; lowe syndrome; cell ... See more keywords
Participation of OCRL1, and APPL1, in the expression, proteolysis, phosphorylation and endosomal trafficking of megalin: Implications for Lowe Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2022.911664
Abstract: Megalin/LRP2 is the primary multiligand receptor for the re-absorption of low molecular weight proteins in the proximal renal tubule. Its function is significantly dependent on its endosomal trafficking. Megalin recycling from endosomal compartments is altered… read more here.
Keywords: megalin; endosomal trafficking; lowe syndrome; trafficking megalin ... See more keywords
Heterogeneity in Lowe Syndrome: Mutations Affecting the Phosphatase Domain of OCRL1 Differ in Impact on Enzymatic Activity and Severity of Cellular Phenotypes
Sign Up to like & getrecommendations! Published in 2023 at "Biomolecules"
DOI: 10.3390/biom13040615
Abstract: Lowe Syndrome (LS) is a condition due to mutations in the OCRL1 gene, characterized by congenital cataracts, intellectual disability, and kidney malfunction. Unfortunately, patients succumb to renal failure after adolescence. This study is centered in… read more here.
Keywords: mutations affecting; domain; lowe syndrome; phosphatase domain ... See more keywords