keyword
MENU ▼
Read by QxMD icon Read
search

primary cilia brain

keyword
https://www.readbyqxmd.com/read/29464516/quantitative-comparison-of-primary-cilia-marker-expression-and-length-in-the-mouse-brain
#1
Éva Sipos, Sámuel Komoly, Péter Ács
Primary cilia are small, special cellular organelles that provide important sensory and signaling functions during the development of mammalian organs and coordination of postnatal cellular processes. Dysfunction of primary cilia are thought to be the main cause of ciliopathies, a group of genetic disorders characterized by overlapping developmental defects and prominent neurodevelopmental features. Although, disrupted cilia-linked signaling pathways have been implicated in the regulation of numerous neuronal functions, the precise role of primary cilia in the brain are still unknown...
February 20, 2018: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/29444177/kidney-differentiated-cells-derived-from-lowe-syndrome-patient-s-ipscs-show-ciliogenesis-defects-and-six2-retention-at-the-golgi-complex
#2
Wen-Chieh Hsieh, Swetha Ramadesikan, Donna Fekete, Ruben Claudio Aguilar
Lowe syndrome is an X-linked condition characterized by congenital cataracts, neurological abnormalities and kidney malfunction. This lethal disease is caused by mutations in the OCRL1 gene, which encodes for the phosphatidylinositol 5-phosphatase Ocrl1. While in the past decade we witnessed substantial progress in the identification and characterization of LS patient cellular phenotypes, many of these studies have been performed in knocked-down cell lines or patient's cells from accessible cell types such as skin fibroblasts, and not from the organs affected...
2018: PloS One
https://www.readbyqxmd.com/read/29378965/disruption-of-the-ciliary-gtpase-arl13b-suppresses-sonic-hedgehog-overactivation-and-inhibits-medulloblastoma-formation
#3
Sarah N Bay, Alyssa B Long, Tamara Caspary
Medulloblastoma (MB) is the most common malignant pediatric brain tumor, and overactivation of the Sonic Hedgehog (Shh) signaling pathway, which requires the primary cilium, causes 30% of MBs. Current treatments have known negative side effects or resistance mechanisms, so new treatments are necessary. Shh signaling mutations, like those that remove Patched1 (Ptch1) or activate Smoothened (Smo), cause tumors dependent on the presence of cilia. Genetic ablation of cilia prevents these tumors by removing Gli activator, but cilia are a poor therapeutic target since they support many biological processes...
January 29, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29321663/lpa-signaling-is-regulated-through-the-primary-cilium-a-novel-target-in-glioblastoma
#4
Yuriy V Loskutov, Caryn L Griffin, Kristina M Marinak, Andrey Bobko, Naira V Margaryan, Werner J Geldenhuys, Jann N Sarkaria, Elena N Pugacheva
The primary cilium is a ubiquitous organelle presented on most human cells. It is a crucial signaling hub for multiple pathways including growth factor and G-protein coupled receptors. Loss of primary cilia, observed in various cancers, has been shown to affect cell proliferation. Primary cilia formation is drastically decreased in glioblastoma (GBM), however, the role of cilia in normal astrocyte or glioblastoma proliferation has not been explored. Here, we report that loss of primary cilia in human astrocytes stimulates growth rate in a lysophosphatidic acid (LPA)-dependent manner...
January 11, 2018: Oncogene
https://www.readbyqxmd.com/read/29229923/eml1-loss-impairs-apical-progenitor-spindle-length-and-soma-shape-in-the-developing-cerebral-cortex
#5
Sara Bizzotto, Ana Uzquiano, Florent Dingli, Dmitry Ershov, Anne Houllier, Guillaume Arras, Mark Richards, Damarys Loew, Nicolas Minc, Alexandre Croquelois, Anne Houdusse, Fiona Francis
The ventricular zone (VZ) of the developing cerebral cortex is a pseudostratified epithelium that contains progenitors undergoing precisely regulated divisions at its most apical side, the ventricular lining (VL). Mitotic perturbations can contribute to pathological mechanisms leading to cortical malformations. The HeCo mutant mouse exhibits subcortical band heterotopia (SBH), likely to be initiated by progenitor delamination from the VZ early during corticogenesis. The causes for this are however, currently unknown...
December 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29130579/a-homozygous-deleterious-cdk10-mutation-in-a-patient-with-agenesis-of-corpus-callosum-retinopathy-and-deafness
#6
Vincent J Guen, Simon Edvardson, Nitay D Fraenkel, Aviva Fattal-Valevski, Chaim Jalas, Irene Anteby, Avraham Shaag, Talia Dor, David Gillis, Eitan Kerem, Jacqueline A Lees, Pierre Colas, Orly Elpeleg
The primary cilium is a key organelle in numerous physiological and developmental processes. Genetic defects in the formation of this non-motile structure, in its maintenance and function, underlie a wide array of ciliopathies in human, including craniofacial, brain and heart malformations, and retinal and hearing defects. We used exome sequencing to study the molecular basis of disease in an 11-year-old female patient who suffered from growth retardation, global developmental delay with absent speech acquisition, agenesis of corpus callosum and paucity of white matter, sensorineural deafness, retinitis pigmentosa, vertebral anomalies, patent ductus arteriosus, and facial dysmorphism reminiscent of STAR syndrome, a suspected ciliopathy...
November 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29110094/mapping-gpr88-venus-illuminates-a-novel-role-for-gpr88-in-sensory-processing
#7
Aliza T Ehrlich, Meriem Semache, Julie Bailly, Stefan Wojcik, Tanzil M Arefin, Christine Colley, Christian Le Gouill, Florence Gross, Viktoriya Lukasheva, Mireille Hogue, Emmanuel Darcq, Laura-Adela Harsan, Michel Bouvier, Brigitte L Kieffer
GPR88 is an orphan G-protein coupled receptor originally characterized as a striatal-enriched transcript and is a potential target for neuropsychiatric disorders. At present, gene knockout studies in the mouse have essentially focused on striatal-related functions and a comprehensive knowledge of GPR88 protein distribution and function in the brain is still lacking. Here, we first created Gpr88-Venus knock-in mice expressing a functional fluorescent receptor to fine-map GPR88 localization in the brain. The receptor protein was detected in neuronal soma, fibers and primary cilia depending on the brain region, and remarkably, whole-brain mapping revealed a yet unreported layer-4 cortical lamination pattern specifically in sensory processing areas...
November 6, 2017: Brain Structure & Function
https://www.readbyqxmd.com/read/29081827/study-of-genetic-association-with-dcdc2-and-developmental-dyslexia-in-hong-kong-chinese-children
#8
Mary M Y Waye, Lim K Poo, Connie S-H Ho
BACKGROUND: Doublecortin domain-containing 2 (DCDC2) is a doublecortin domain-containing gene family member and the doublecortin domain has been demonstrated to bind to tubulin and enhance microtubule polymerization. It has been associated with developmental dyslexia and this protein family member is thought to function in neuronal migration where it may affect the signaling of primary cilia. OBJECTIVES: The objective of the study is to find out if there is any association of genetic variants of DCDC2 with developmental dyslexia in Chinese children from Hong Kong...
2017: Clinical Practice and Epidemiology in Mental Health: CP & EMH
https://www.readbyqxmd.com/read/29061345/branchanalysis2d-3d-automates-morphometry-analyses-of-branching-structures
#9
Aditya Srinivasan, Jesús Muñoz-Estrada, Justin R Bourgeois, Julia W Nalwalk, Kevin M Pumiglia, Volney L Sheen, Russell J Ferland
BACKGROUND: Morphometric analyses of biological features have become increasingly common in recent years with such analyses being subject to a large degree of observer bias, variability, and time consumption. While commercial software packages exist to perform these analyses, they are expensive, require extensive user training, and are usually dependent on the observer tracing the morphology. NEW METHOD: To address these issues, we have developed a broadly applicable, no-cost ImageJ plugin we call 'BranchAnalysis2D/3D', to perform morphometric analyses of structures with branching morphologies, such as neuronal dendritic spines, vascular morphology, and primary cilia...
October 20, 2017: Journal of Neuroscience Methods
https://www.readbyqxmd.com/read/29030052/primary-cilia-in-brain-development-and-diseases
#10
REVIEW
Yong H Youn, Young-Goo Han
The primary cilium, a sensory appendage that is present in most mammalian cells, plays critical roles in signaling pathways and cell cycle progression. Mutations that affect the structure or function of primary cilia result in ciliopathies, a group of developmental and degenerative diseases that affect almost all organs and tissues. Our understanding of the constituents, development, and function of primary cilia has advanced considerably in recent years, revealing pathogenic mechanisms that potentially underlie ciliopathies...
October 10, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28941984/neural-crest-cells-utilize-primary-cilia-to-regulate-ventral-forebrain-morphogenesis-via-hedgehog-dependent-regulation-of-oriented-cell-division
#11
Elizabeth N Schock, Samantha A Brugmann
Development of the brain directly influences the development of the face via both physical growth and Sonic hedgehog (SHH) activity; however, little is known about how neural crest cells (NCCs), the mesenchymal population that comprise the developing facial prominences, influence the development of the brain. We utilized the conditional ciliary mutant Wnt1-Cre;Kif3a(fl/fl) to demonstrate that loss of primary cilia on NCCs resulted in a widened ventral forebrain. We found that neuroectodermal Shh expression, dorsal/ventral patterning, and amount of proliferation in the ventral neuroectoderm was not changed in Wnt1-Cre;Kif3a(fl/fl) mutants; however, tissue polarity and directional cell division were disrupted...
November 15, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28927861/primary-cilia-formation-is-diminished-in-schizophrenia-and-bipolar-disorder-a-possible-marker-for-these-psychiatric-diseases
#12
Jesús Muñoz-Estrada, Alejandra Lora-Castellanos, Isaura Meza, Salvador Alarcón Elizalde, Gloria Benítez-King
Primary cilium (PC) is a microtubule-rich organelle that protrudes from the plasma membrane and acts as a cellular antenna sensing extracellular signals during brain development. DISC1 (Disrupted-in-Schizophrenia-1) is involved in PC formation and is considered a risk factor for neuropsychiatric disorders. We have previously described altered subcellular distribution of DISC1 and an aberrant microtubule organization in olfactory neuronal precursors (ONP) obtained from schizophrenia (SCZ) and bipolar disorder (BD) patients...
September 16, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28863455/characterization-of-2-novel-ependymoma-cell-lines-with-chromosome-1q-gain-derived-from-posterior-fossa-tumors-of-childhood
#13
Vladimir Amani, Andrew M Donson, Seth C Lummus, Eric W Prince, Andrea M Griesinger, Davis A Witt, Todd C Hankinson, Michael H Handler, Kathleen Dorris, Rajeev Vibhakar, Nicholas K Foreman, Lindsey M Hoffman
Ependymoma (EPN) is a common brain tumor of childhood that, despite standard surgery and radiation therapy, has a relapse rate of 50%. Clinical trials have been unsuccessful in improving outcome by addition of chemotherapy, and identification of novel therapeutics has been hampered by a lack of in vitro and in vivo models. We describe 2 unique EPN cell lines (811 and 928) derived from recurrent intracranial metastases. Both cell lines harbor the high-risk chromosome 1q gain (1q+) and a derivative chromosome 6, and both are classified as molecular group A according to transcriptomic analysis...
July 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28842217/cytoskeleton-related-regulation-of-primary-cilia-shortening-mediated-by-melanin-concentrating-hormone-receptor-1
#14
Sakura Tomoshige, Yuki Kobayashi, Kosuke Hosoba, Akie Hamamoto, Tatsuo Miyamoto, Yumiko Saito
Primary cilia are specialized microtubule-based organelles. Their importance is highlighted by the gamut of ciliary diseases associated with various syndromes including diabetes and obesity. Primary cilia serve as signaling hubs through selective interactions with ion channels and conventional G-protein-coupled receptors (GPCRs). Melanin-concentrating hormone (MCH) receptor 1 (MCHR1), a key regulator of feeding, is selectively expressed in neuronal primary cilia in distinct regions of the mouse brain. We previously found that MCH acts on ciliary MCHR1 and induces cilia shortening through a Gi/o-dependent Akt pathway with no cell cycle progression...
August 23, 2017: General and Comparative Endocrinology
https://www.readbyqxmd.com/read/28842124/phencyclidine-induced-dysregulation-of-primary-cilia-in-the-rodent-brain
#15
Hiroki Shiwaku, Asami Umino, Masakazu Umino, Toru Nishikawa
Significant roles of the primary cilia in the central nervous system have been reported in neural generation and cognitive functions. However, little is known about the possible pathological changes in brain primary cilia in neuropsychiatric disorders. To obtain an insight into the relationship between cilial dysregulation and schizophrenia, we presently investigated the effects of psychotomimetics, phencyclidine, MK-801 (dizocilpine), and methamphetamine, on morphological and molecular indices in the rodent brain...
August 22, 2017: Brain Research
https://www.readbyqxmd.com/read/28729419/the-exocyst-is-required-for-photoreceptor-ciliogenesis-and-retinal-development
#16
Glenn P Lobo, Diana Fulmer, Lilong Guo, Xiaofeng Zuo, Yujing Dang, Seok-Hyung Kim, Yanhui Su, Kola George, Elisabeth Obert, Ben Fogelgren, Deepak Nihalani, Russell A Norris, Bärbel Rohrer, Joshua H Lipschutz
We previously have shown that the highly conserved eight-protein exocyst trafficking complex is required for ciliogenesis in kidney tubule cells. We hypothesized here that ciliogenic programs are conserved across organs and species. To determine whether renal primary ciliogenic programs are conserved in the eye, and to characterize the function and mechanisms by which the exocyst regulates eye development in zebrafish, we focused on exoc5, a central component of the exocyst complex, by analyzing both exoc5 zebrafish mutants, and photoreceptor-specific Exoc5 knock-out mice...
September 8, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28650469/a-compartmentalized-phosphoinositide-signaling-axis-at-cilia-is-regulated-by-inpp5e-to-maintain-cilia-and-promote-sonic-hedgehog-medulloblastoma
#17
S E Conduit, V Ramaswamy, M Remke, D N Watkins, B J Wainwright, M D Taylor, C A Mitchell, J M Dyson
Sonic Hedgehog (SHH) signaling at primary cilia drives the proliferation and progression of a subset of medulloblastomas, the most common malignant paediatric brain tumor. Severe side effects associated with conventional treatments and resistance to targeted therapies has led to the need for new strategies. SHH signaling is dependent on primary cilia for signal transduction suggesting the potential for cilia destabilizing mechanisms as a therapeutic target. INPP5E is an inositol polyphosphate 5-phosphatase that hydrolyses PtdIns(4,5)P2 and more potently, the phosphoinositide (PI) 3-kinase product PtdIns(3,4,5)P3...
October 26, 2017: Oncogene
https://www.readbyqxmd.com/read/28625504/mutations-in-armc9-which-encodes-a-basal-body-protein-cause-joubert-syndrome-in-humans-and-ciliopathy-phenotypes-in-zebrafish
#18
Julie C Van De Weghe, Tamara D S Rusterholz, Brooke Latour, Megan E Grout, Kimberly A Aldinger, Ranad Shaheen, Jennifer C Dempsey, Sateesh Maddirevula, Yong-Han H Cheng, Ian G Phelps, Matthias Gesemann, Himanshu Goel, Ohad S Birk, Talal Alanzi, Rifaat Rawashdeh, Arif O Khan, Michael J Bamshad, Deborah A Nickerson, Stephan C F Neuhauss, William B Dobyns, Fowzan S Alkuraya, Ronald Roepman, Ruxandra Bachmann-Gagescu, Dan Doherty
Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by hypotonia, ataxia, abnormal eye movements, and variable cognitive impairment. It is defined by a distinctive brain malformation known as the "molar tooth sign" on axial MRI. Subsets of affected individuals have malformations such as coloboma, polydactyly, and encephalocele, as well as progressive retinal dystrophy, fibrocystic kidney disease, and liver fibrosis. More than 35 genes have been associated with JS, but in a subset of families the genetic cause remains unknown...
July 6, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28473847/the-radial-organization-of-neuronal-primary-cilia-is-acutely-disrupted-by-seizure-and-ischemic-brain-injury
#19
Gregory W Kirschen, Hanxiao Liu, Tracy Lang, Xuelin Liang, Shaoyu Ge, Qiaojie Xiong
BACKGROUND: Neuronal primary cilia are sensory organelles that are critically involved in the proper growth, development, and function of the central nervous system (CNS). Recent work also suggests that they signal in the context of CNS injury, and that abnormal ciliary signaling may be implicated in neurological diseases. METHODS: We quantified the distribution of neuronal primary cilia alignment throughout the normal adult mouse brain by immunohistochemical staining for the primary cilia marker adenylyl cyclase III (ACIII) and measuring the angles of primary cilia with respect to global and local coordinate planes...
April 2017: Frontiers in Biology
https://www.readbyqxmd.com/read/28448009/using-primary-neurosphere-cultures-to-study-primary-cilia
#20
Issei S Shimada, Hemant Badgandi, Bandarigoda N Somatilaka, Saikat Mukhopadhyay
The primary cilium is fundamentally important for the proliferation of neural stem/progenitor cells and for neuronal differentiation during embryonic, postnatal, and adult life. In addition, most differentiated neurons possess primary cilia that house signaling receptors, such as G-protein-coupled receptors, and signaling molecules, such as adenylyl cyclases. The primary cilium determines the activity of multiple developmental pathways, including the sonic hedgehog pathway during embryonic neuronal development, and also functions in promoting compartmentalized subcellular signaling during adult neuronal function...
April 14, 2017: Journal of Visualized Experiments: JoVE
keyword
keyword
92097
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"