Results 21 to 30 of about 1,632 (161)

Whole blood gene expression moderates associations between AD biomarkers and cognitive decline in cognitively unimpaired older adults. [PDF]

Alzheimers Dement
Abstract INTRODUCTION Early biological pathways explaining the risk for Alzheimer's disease (AD)–related cognitive decline remain poorly understood. METHODS Using linear mixed‐effects models, we investigated whether whole blood gene expression (RNA sequencing) moderates the relationship between AD biomarkers measured by amyloid beta (Aβ) and tau‐PET ...
Klinger HM, Seto M, Janve VA, Brown JA, Clifton M, Birkenbihl C, Coughlan GT, Townsend DL, Properzi M, Zyski J, Wang TC, Amariglio RE, Papp KV, Rentz DM, Yang HS, Chhatwal J, Donohue MC, Raman R, Rissman RA, Aisen P, Johnson KA, Sperling RA, Dumitrescu L, Hohman T, Buckley RF.   +24 more
europepmc   +2 more sources

Novel pathogenic OCRL mutations and genotype–phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review

BMC Medical Genomics, 2021
Background Oculocerebrorenal syndrome of Lowe is a rare X-linked disorder characterized by congenital cataracts, mental retardation, and proximal tubulopathy.
Yu Zhang, Linxia Deng, Xiaohong Chen, Yingjie Hu, Yaxian Chen, Kang Chen, Jianhua Zhou   +6 more
doaj   +1 more source

A role of OCRL in clathrin-coated pit dynamics and uncoating revealed by studies of Lowe syndrome cells

eLife, 2014
Mutations in the inositol 5-phosphatase OCRL cause Lowe syndrome and Dent's disease. Although OCRL, a direct clathrin interactor, is recruited to late-stage clathrin-coated pits, clinical manifestations have been primarily attributed to intracellular ...
Ramiro Nández, Daniel M Balkin, Mirko Messa, Liang Liang, Summer Paradise, Heather Czapla, Marco Y Hein, James S Duncan, Matthias Mann, Pietro De Camilli   +9 more
doaj   +1 more source

The unexpected role of Drosophila OCRL during cytokinesis

Communicative & Integrative Biology, 2012
Inositides are intrinsic components of cell membranes that regulate a wide variety of cellular functions. PtdIns(4,5)P(2,) one of the most abundant phosphoinositides, is restricted at the plasma membrane where it regulates numerous functions including cell division.
Ben El Kadhi, Khaled, Emery, Grégory, Carreno, Sebastien   +2 more
openaire   +2 more sources

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

Nature Structural & 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-
Pirruccello, Michelle, Swan, Laura E., Folta-Stogniew, Ewa, De Camilli, Pietro   +3 more
openaire   +2 more sources

Establishment of a human induced pluripotent stem cell line (WMUi031-A) from a Lowe syndrome patient carrying a OCRL gene mutation (c.2626dupA)

Stem Cell Research, 2021
Lowe Syndrome (LS) is a rare X-linked multisystemic disorder syndrome, which can be caused by the gene mutations of OCRL. In present study, the urine cells (UCs) derived from a 12-year-old male LS patient with the hemizygote OCRL gene mutation p.M876N (c.
Rengchen Qian, Long Wang, Huihui Chen, Yinjuan Ding, Dexuan Wang, Congde Chen, Maoping Chu, Xiaoou Shan, Xiaoling Guo   +8 more
doaj   +1 more source

Establishment of patient-specific induced pluripotent stem cell line SDUBMSi009-A from a patient with X-linked Lowe syndrome

Stem Cell Research, 2021
X-linked Lowe syndrome is a multisystem disorder showing major abnormalities in the eyes, kidneys and central nervous system. OCRL gene, which encodes an inositol polyphosphate 5-phosphatase, is associated with Lowe syndrome when mutated.
Xiaolin Liu, Yong Liu, Yanyan Ma, Yaoqin Gong, Qiji Liu, Wenjie Sun, Hui Guo   +6 more
doaj   +1 more source

IPIP27A cooperates with OCRL to support endocytic traffic in the zebrafish pronephric tubule

Human Molecular Genetics, 2021
Abstract Endocytosis is a fundamentally important process through which material is internalized into cells from the extracellular environment. In the renal proximal tubule, endocytosis of the abundant scavenger receptor megalin and its co-receptor cubilin play a vital role in retrieving low molecular weight proteins from the renal ...
Francesca Oltrabella, Anthony Jackson-Crawford, Guanhua Yan, Sarah Rixham, Tobias Starborg, Martin Lowe   +5 more
openaire   +3 more sources

OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome [PDF]

Human Molecular Genetics, 2012
Oculocerebral renal syndrome of Lowe (OCRL or Lowe syndrome), a severe X-linked congenital disorder characterized by congenital cataracts and glaucoma, mental retardation and kidney dysfunction, is caused by mutations in the OCRL gene. OCRL is a phosphoinositide 5-phosphatase that interacts with small GTPases and is involved in intracellular ...
Luo, Na, West, Callah C, Murga-Zamalloa, Carlos A, Sun, Lou, Anderson, Ryan M, Wells, Clark D, Weinreb, Robert N, Travers, Jeffrey B, Khanna, Hemant, Sun, Yang   +9 more
openaire   +4 more sources

Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development

Disease Models & Mechanisms, 2020
A critical barrier in the treatment of endosomal and lysosomal diseases is the lack of understanding of the in vivo functions of the putative causative genes.
Kristin M. Ates, Tong Wang, Trevor Moreland, Rajalakshmi Veeranan-Karmegam, Manxiu Ma, Chelsi Jeter, Priya Anand, Wolfgang Wenzel, Hyung-Goo Kim, Lynne A. Wolfe, Joshi Stephen, David R. Adams, Thomas Markello, Cynthia J. Tifft, Robert Settlage, William A. Gahl, Graydon B. Gonsalvez, May Christine Malicdan, Heather Flanagan-Steet, Y. Albert Pan   +19 more
doaj   +1 more source