Results 21 to 30 of about 4,156 (218)

Role of oculocerebrorenal syndrome of Lowe (OCRL) protein in megakaryocyte maturation, platelet production and functions: a study in patients with Lowe syndrome

British Journal of Haematology, 2021
Lowe syndrome (LS) is an oculocerebrorenal syndrome of Lowe (OCRL1) genetic disorder resulting in a defect of the OCRL protein, a phosphatidylinositol‐4,5‐bisphosphate 5‐phosphatase containing various domains including a Rho GTPase‐activating protein ...
Dominique Lasne, Tristan Mirault, Dominique Pidard   +2 more
exaly   +2 more sources

Novel mutation in OCRL leading to a severe form of Lowe syndrome [PDF]

International Journal of Ophthalmology, 2019
AIM: To investigate the phenotype and genotype of a family with X-linked recessive Lowe syndrome. METHODS: All the members in the Chinese pedigree underwent comprehensive ophthalmologic and systemic examinations. Genomic DNA was isolated from peripheral
Feng-Qi Zhou, Qi-Wei Wang, Zhen-Zhen Liu, Xu-Lin Zhang, Dong-Ni Wang, Mei-Mei Dongye, Hao-Tian Lin, Wei-Rong Chen   +7 more
doaj   +3 more sources

Identification of novel OCRL isoforms associated with phenotypic differences between Dent disease-2 and Lowe syndrome

Nephrology Dialysis Transplantation, 2021
BACKGROUND Although Lowe syndrome and Dent disease-2 are both caused by OCRL mutations, their clinical severities differ substantially, and their molecular mechanisms remain unclear.
Nana Sakakibara, Tomoko Horinouchi, Tomohiko Yamamura   +2 more
exaly   +2 more sources

Kidney Tubular Ablation of Ocrl/Inpp5b Phenocopies Lowe Syndrome Tubulopathy. [PDF]

Journal of the American Society of Nephrology, 2017
Lowe syndrome and Dent disease are two conditions that result from mutations of the inositol 5-phosphatase oculocerebrorenal syndrome of Lowe (OCRL) and share the feature of impaired kidney proximal tubule function. Genetic ablation of Ocrl in mice failed to recapitulate the human phenotypes, possibly because of the redundant functions of OCRL and its ...
Kazunori Inoue, Daniel M Balkin, Lijuan Liu, Ramiro Nández, Yumei Wu, Xuefei Tian, Tong Wang, R. Nussbaum, P. De Camilli, S. Ishibe   +9 more
semanticscholar   +3 more sources

The inositol 5-phosphatases OCRL and INPP5B: Cellular functions and roles in disease.

Biochimica and Biophysica Acta. Molecular and Cell Biology of Lipids
OCRL and INPP5B are evolutionary conserved inositol 5-phosphatases that are preferentially hydrolyse PI(4,5)P2, a key regulator of numerous cellular processes.
Aloka de Sa, Gaoyu Li, Connor Byrne, Martin Lowe   +3 more
semanticscholar   +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

Loss of OCRL increases ciliary PI(4,5)P2 in Lowe oculocerebrorenal syndrome [PDF]

Journal of Cell Science, 2017
ABSTRACT Lowe syndrome is a rare X-linked disorder characterized by bilateral congenital cataracts and glaucoma, mental retardation, and proximal renal tubular dysfunction. Mutations in OCRL, an inositol polyphosphate 5-phosphatase that dephosphorylates PI(4,5)P2, cause Lowe syndrome.
Philipp P. Prosseda, Na Luo, Biao Wang, J. Alvarado, Yang Hu, Yang Sun   +5 more
semanticscholar   +3 more sources

Oculocerebrorenal syndrome of Lowe (OCRL) controls leukemic T-cell survival by preventing excessive PI(4,5)P2 hydrolysis in the plasma membrane [PDF]

J Biol Chem, 2023
T-cell acute lymphoblastic leukemia (T-ALL) is one of the deadliest and most aggressive hematological malignancies, but its pathological mechanism in controlling cell survival is not fully understood. Oculocerebrorenal syndrome of Lowe is a rare X-linked
Huanzhao Chen, Chen Lu, Yuhui Tan, Marion Weber-Boyvat, Jie Zheng, Mengyang Xu, Jie Xiao, Shuang Liu, Zhiquan Tang, Chaofeng Lai, Mingchuan Li, V. Olkkonen, Daoguang Yan, Wenbin Zhong   +13 more
semanticscholar   +2 more sources

Recognition of the F&H motif by the Lowe syndrome protein OCRL [PDF]

Nature Structural and Molecular Biology, 2011
Lowe syndrome and type 2 Dent disease are caused by defects in the inositol 5-phosphatase OCRL. Most missense mutations in the OCRL ASH-RhoGAP domain that are found in affected individuals abolish interactions with the endocytic adaptors APPL1 and Ses (both Ses1 and Ses2), which bind OCRL through a short phenylalanine and histidine (F&H) motif. Using X-
Laura E Swan
exaly   +3 more sources