Results 41 to 50 of about 1,632 (161)

Regulation of Phagocytosis in Dictyostelium by the Inositol 5‐Phosphatase OCRL Homolog Dd5P4 [PDF]

Traffic, 2007
Phosphoinositides are involved in endocytosis in both mammalian cells and the amoeba Dictyostelium discoideum. Dd5P4 is the Dictyostelium homolog of human OCRL (oculocerebrorenal syndrome of Lowe); both have a RhoGAP domain and a 5‐phosphatase domain that acts on phosphatidylinositol 4,5‐bisphosphate/phosphatidylinositol 3,4,5‐trisphosphate (PI(3,4,5 ...
van Haastert, Peter J. M., Loovers, Harriet M., Kortholt, Arjan, de Groote, Hendrie, Whitty, Leslie, Nussbaum, Robert L.   +5 more
openaire   +4 more sources

Whole‐genome sequencing revealed an interstitial deletion encompassing OCRL and SMARCA1 gene in a patient with Lowe syndrome

Molecular Genetics & Genomic Medicine, 2019
Background Lowe syndrome is a rare X‑linked syndrome that is characterized by involvement of the eyes, central nervous system, and kidneys. The aim of the present study was to determine the molecular basis of four patients with congenital cataract ...
Bixia Zheng, Qiuxia Chen, Chunli Wang, Wei Zhou, Ying Chen, Guixia Ding, Zhanjun Jia, Aihua Zhang, SongMing Huang   +8 more
doaj   +1 more source

Bleeding and hemostatic defects in Lowe syndrome: the role of OCRL in platelets

Frontiers in Cell and Developmental Biology
Lowe syndrome (LS) is an X-linked disorder caused by OCRL mutations, encoding a phosphatidylinositol 5-phosphatase. OCRL regulates phosphatidylinositol-(4,5)-bisphosphate [PI(4,5)P2]-dependent cytoskeletal dynamics and membrane trafficking in multiple ...
Ana Bura, Antonija Jurak Begonja
doaj   +1 more source

Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao, Yan Wang, Gang Li, Zhitao Zhang, Yuan Lv, Lizhu Chen   +5 more
wiley   +1 more source

Rational design of k-casein peptides to modulate GSK-3B dynamics for Alzheimer’s therapy

Scientific Reports
GSK-3β is an important therapeutic target in Alzheimer’s disease due to its central role in tau hyperphosphorylation, and synaptic dysfunction. In this study, a κ-casein-derived peptide (LALTLPFLGA) was identified via HADDOCK and introduced to MD ...
Neda Moghaddam, Ali Ramazani, Armin Zarei   +2 more
doaj   +1 more source

Enzymatic Prenylation of Proteins and Peptides: From Cysteine S‐Prenylation to Tryptophan‐Selective Biocatalysis

Chemistry – A European Journal, Volume 32, Issue 24, 23 June 2026.
This review highlights biocatalytic prenylation as a versatile strategy for tailoring the functional properties of peptides and proteins. By comparing branched isoprenoids with linear lipids, we illustrate how specific prenyl architectures modulate the behaviors of lipidated proteins within membrane environments.
Daisuke Fujinami, Hikari Ozawa, Sohei Ito   +2 more
wiley   +1 more source

Lowe syndrome: case report

Zdravniški Vestnik, 2018
Lowe syndrome is a rare X-linked multisystemic disorder, caused by mutation of the OCRL gene which encodes OCRL-1 protein. The disease is characterized by the triad of congenital cataracts, intellectual disability, and Fanconi-like proximal renal tubular
Eva Bahor, Rina Rus
doaj   +1 more source

Vacuolization as a Novel Approach to Cancer Therapy

Journal of Biochemical and Molecular Toxicology, Volume 40, Issue 6, June 2026.
This review discusses the novel strategy of inducing vacuole formation in cancer cells using small molecules, that induce nonapoptotic cell death mechanisms, such as paraptosis, oncosis, autophagy, and methuosis, and its potential in overcoming resistance to apoptosis‐based cancer therapies.
Mariah Pasternak, Noor Hussein, Veronica Piedra, Saloni Malla, Chandrabose Karthikeyan, Haneen Amawi, Harish Rajak, Charles R. Ashby Jr., R. Jayachandra Babu, Amit K. Tiwari   +9 more
wiley   +1 more source

Confirmation of Exome Sequencing Results Using Sanger Sequencing—Considerations in a Low‐Resource Setting

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
In our African developmental disorder cohort, high confidence variants in the first 64 probands that underwent ES were confirmed using Sanger sequencing. Our study suggests that confirming exome sequencing results with an orthogonal approach like Sanger sequencing is unnecessary in a resource‐limited setting, when robust, context‐informed quality ...
Nadja Louw, Samantha Schnell, Mhlekazi Molatoli, Ingrid Smit, Robyn Kerr, Koen Devriendt, Aimé Lumaka, Amanda Krause, Nadia Carstens, Zané Lombard, for DDD‐Africa as members of the H3Africa Consortium   +10 more
wiley   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source