Results 1 to 10 of about 1,632 (161)

Mitochondrial structure and function in OCRL depleted cells [PDF]

Frontiers in Cell and Developmental Biology
Lowe syndrome (LS) is an X-linked, recessive disease with a characteristic clinical triad of eye, brain, and kidney defects. LS results from mutations in the OCRL gene that encodes for inositol polyphosphate 5-phosphatase enzyme.
Ron George Philip, Ron George Philip, Priyanka Bhatia, Yojet Sharma, Yojet Sharma, Padinjat Raghu   +5 more
doaj   +4 more sources

SdhA blocks disruption of the Legionella-containing vacuole by hijacking the OCRL phosphatase [PDF]

Cell Reports, 2021
Summary: Legionella pneumophila grows intracellularly within a replication vacuole via action of Icm/Dot-secreted proteins. One such protein, SdhA, maintains the integrity of the vacuolar membrane, thereby preventing cytoplasmic degradation of bacteria ...
Wenwen Huo, Ralph Isberg
exaly   +8 more sources

Comprehensive Splice Pattern Analysis for Previously Reported OCRL Splicing Variants and Their Phenotypic Contributions [PDF]

Kidney International Reports
Introduction: Two distinct phenotypes of Dent disease-2 and Lowe syndrome are caused by oculocerebrorenal syndrome of Lowe (OCRL) abnormality. Previous genetic studies demonstrated that truncating variants in exons 1 to 7 results in Dent disease-2 and in
Yuta Inoki, Rini Rossanti
exaly   +4 more sources

Enhanced Notch dependent gliogenesis and delayed physiological maturation underlie neurodevelopmental defects in Lowe syndrome [PDF]

EMBO Molecular Medicine
Coordination of cellular and physiological development by signaling is required for normal brain structure and function. Mutations in OCRL, a phosphatidylinositol 4,5 bisphosphate [PI(4,5)P2], 5-phosphatase leads to Lowe Syndrome (LS).
Yojet Sharma, Priyanka Bhatia, Gagana Rangappa, Sankhanil Saha, Padinjat Raghu   +4 more
doaj   +3 more sources

Clinical variation in Lowe syndrome: what and how? [PDF]

Frontiers in Cell and Developmental Biology
Lowe syndrome is an X-linked disorder caused by mutations of the OCRL gene which encodes the enzyme inositol polyphosphate-5-phosphatase OCRL (Ocrl1) and is expressed in almost all body cells.
Eileen D. Brewer
doaj   +2 more sources

Modelling Lowe syndrome and Dent-2 disease using zebrafish [PDF]

Frontiers in Cell and Developmental Biology
Lowe syndrome and Dent-2 disease are caused by mutations in the gene encoding OCRL, an inositol 5-phosphatase. The phenotype manifests in the eyes, brain and kidney, with the extra-renal features milder in the case of Dent-2 disease.
Martin Lowe
doaj   +2 more sources

Characterization of pre-mRNA Splicing Defects Caused by CLCN5 and OCRL Mutations and Identification of Novel Variants Associated with Dent Disease [PDF]

Biomedicines, 2023
Dent disease (DD) is an X-linked renal tubulopathy characterized by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis and progressive renal failure.
Glorián Mura-Escorche, Ana Perdomo-Ramírez, Elena Ramos-Trujillo, Carmen Jane Trujillo-Frías, Félix Claverie-Martín   +4 more
doaj   +2 more sources

Development and assessment of a reactive oxygen species generator independent of external stimuli utilizing metal–organic frameworks [PDF]

Scientific Reports
Our research showed that the nanoparticles incorporated within the Metal–Organic Framework (MOF) substrate can facilitate self-driven electron transfer without the need for external stimulation to produce reactive oxygen species (ROS).
Omid Feghhe Miri, Ali Ramazani, Ali Morsali, Somayeh Tarasi   +3 more
doaj   +2 more sources

Multiple analytical perspectives of mitochondrial genes in the context of preeclampsia: potential diagnostic markers [PDF]

Frontiers in Immunology
Preeclampsia(PE) is closely linked to adverse maternal and fetal outcomes. Given the pivotal roles of mitochondria in various human diseases and the limited research on their involvement in PE, this study identified biomarkers linked to mitochondrial ...
Can Li, Can Li, Fang Liu, Chao Li, Xiangzhong Zhao, Qiulan Lv, Aiping Jiang, Shuping Zhao   +7 more
doaj   +2 more sources

Clinical features and genetic analysis of nine Chinese children with Dent disease and identification of three novel CLCN5 and OCRL variants [PDF]

Renal Failure
Objective This study aims to elucidate the genetic and phenotypic characteristics of pediatric patients with potential Dent disease (DD).Methods High-throughput sequencing was conducted on 11 pediatric patients with potential cases of DD.
Xinyi Jiang, Hongzhou Lin, Qifan Zhu, Huihui Chen, Yutong Huang, Xiu-Feng Huang, Dexuan Wang   +6 more
doaj   +2 more sources