Results 41 to 50 of about 1,281 (185)

dOCRL maintains immune cell quiescence in Drosophila by regulating endosomal traffic [PDF]

, 2017
Lowe Syndrome is a developmental disorder characterized by eye, kidney, and neurological pathologies, and is caused by mutations in the phosphatidylinositol-5-phosphatase OCRL.
A Faucherre, A Guha, A Legido, A Maminska, A Witsell, AA Lazareva, AK Satoh, AK Shia, AM Allmendinger, Avital A. Rodal, B Lemaitre, B Zhou, Benjamin H. Rosenfeld, BV Shravage, BZ Shilo, C Cauvin, C Savarin, CJ Noakes, CJ Zettervall, D Dambournet, D Stein, DA Kimbrell, E Beurel, E Kurucz, E Owusu-Ansah, F Oltrabella, G Emery, G Guglielmi, GD Gupta, GR Hammond, H Yang, HR Huang, IB Ramirez, IP Nezis, J Clasadonte, J Manaka, J Zhang, JC Hombria, JM Abrams, JQ Ni, JR van Weering, JW Wang, K Ben El Kadhi, K Ketel, K Koles, K Makhijani, Katherine S. Lehmann, KJ Venken, KS Erdmann, KS Gold, L Sun, M Crozatier, M Erta, M Mavrakis, M Vicinanza, M Yamamoto-Hino, MA De Matteis, ME Haberland, MG De Leo, MJ Williams, MM Davis, MR Schmid, N Luo, N Matova, NC Franc, Norbert Perrimon, P Zhang, PG Billcliff, R Choudhury, R Markus, R Markus, R Nandez, R Wubbolts, RJ Khadilkar, S Codeluppi, S Dunst, S Jean, S Minakhina, S Petraki, S Takats, SA Sinenko, Sarah A. Biber, Sean T. Sweeney, SF Soukup, SH Jung, SP Bothwell, Stephanie R. Heimler, Steven J. Del Signore, SW Brubaker, T Lin, Tania L. Eskin, TM Khuong, V Honti, V Honti, VI Korolchuk, W Mobius, Y Shen, ZB Mehta   +97 more
core   +3 more sources

PDE6δ-mediated sorting of INPP5E into the cilium is determined by cargo-carrier affinity [PDF]

, 2016
The phosphodiesterase 6 delta subunit (PDE6δ) shuttles several farnesylated cargos between membranes. The cargo sorting mechanism between cilia and other compartments is not understood.
Fansa, Eyad Kalawy, Ismail, Shehab, Kösling, Stefanie Kristine, Wittinghofer, Alfred, Zent, Eldar   +4 more
core   +1 more source

OCRL1 engages with the F-BAR protein pacsin 2 to promote biogenesis of membrane-trafficking intermediates [PDF]

, 2015
Mutation of the inositol 5-phosphatase OCRL1 causes Lowe syndrome and Dent-2 disease. Loss of OCRL1 function perturbs several cellular processes, including membrane traffic, but the underlying mechanisms remain poorly defined.
Billcliff, PG, Lowe, M, Mak, L, Mehta, ZB, Noakes, CJ, Woscholski, R, Yan, G   +6 more
core   +1 more source

Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort [PDF]

, 2016
BACKGROUND: Lowe syndrome (LS) and Dent-2 disease (DD2) are disorders associated with mutations in the OCRL gene and characterized by progressive chronic kidney disease (CKD).
Addis, M, Ahn, YH, Anglani, F, Baronio, F, Bockenhauer, D, Bökenkamp, A, Bürger, J, Cheong, HI, Chung, WY, Fonduli, P, Gellermann, J, Gucev, Z, Konrad, M, Kołbuc, M, Krzemień, A, La Manna, A, La Scola, C, Lee, JW, Ludwig, M, Miklaszewska, M, Moczko, J, Niemirska, A, Paglialonga, F, Paripovic, D, Park, SJ, Park, YH, Rogowska-Kalisz, A, Roszak, M, Runowski, D, Rus, R, Said-Conti, V, Sartz, L, Sikora, P, Siteń, G, Stefanidis, CJ, Szczepańska, M, Tasic, V, Wasilewska, A, Zampetoglou, A, Zaniew, M, Załuska-Leśniewska, I, Zurrida, F   +41 more
core   +1 more source

Structural Basis for Rab8a Recruitment of RILPL2 via LRRK2 Phosphorylation of Switch 2 [PDF]

, 2020
Rab8a is associated with the dynamic regulation of membrane protrusions in polarized cells. Rab8a is one of several Rab GTPases that are substrates of leucine-rich repeat kinase 2 (LRRK2), a serine/threonine kinase that is linked to Parkinson's disease ...
Alessi, Dario R., Khan, Amir R., McGrath, Emma, Pal, Prosenjit, Purlyte, Elena, Waschbüsch, Dieter   +5 more
core   +3 more sources

Lowe Syndrome (Oculo-cerebro-renal Syndrome of Lowe): A Case Report from Eastern India [PDF]

Journal of Krishna Institute of Medical Sciences University, 2014
Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL) is a rare X-linked recessive metabolic disorder that primarily affects eyes, kidneys and brain. It is caused by the deficiency of enzyme phosphatidylinositol 4, 5-bisphosphate 5-phosphatase.
Dipankar Das, Shoumini Chakravarty, Jaydeb Ray   +2 more
doaj  

Abstract

, 2022
Research and Practice in Thrombosis and Haemostasis, Volume 6, Issue S1, October 2022.
wiley   +1 more source

Retards mentaux liés à l’X [PDF]

, 2005
Les retards mentaux liés au chromosome X (RMLX), qui touchent 1,8 garçons pour 1 000 naissances masculines, sont classiquement divisés en formes syndromiques et formes non spécifiques, selon la présence ou non de signes particuliers associés au retard ...
Billuart, Pierre, Chelly, Jamel, Gilgenkrantz, Simone   +2 more
core   +1 more source

Activation‐Inactivation Cycling of Rab35 and ARF6 Is Required for Phagocytosis of Zymosan in RAW264 Macrophages

Journal of Immunology Research, Volume 2015, Issue 1, 2015., 2015
Phagocytosis of zymosan by phagocytes is a widely used model of microbial recognition by the innate immune system. Live‐cell imaging showed that fluorescent protein‐fused Rab35 accumulated in the membranes of phagocytic cups and then dissociated from the membranes of newly formed phagosomes.
Youhei Egami, Makoto Fujii, Katsuhisa Kawai, Yurie Ishikawa, Mitsunori Fukuda, Nobukazu Araki, Ghislain Opdenakker   +6 more
wiley   +1 more source

Risk factors evaluation for urolithiasis among children [PDF]

, 1978
BackgroundThe prevalence of pediatric urolithiasis varies from 0.01–0.03%. Urolithiasis may be caused by anatomical, metabolic and environmental factors.
Velásquez-Forero, Francisco, Esparza, Mariela, Salas, Alejandro, Medeiros, Mara, Toussaint, Georgina, Llach, Francisco   +5 more
core   +2 more sources