keyword
MENU ▼
Read by QxMD icon Read
search

Cilia

keyword
https://www.readbyqxmd.com/read/28334871/proteomics-insights-into-infantile-neuronal-ceroid-lipofuscinosis-cln1-point-to-the-involvement-of-cilia-pathology-in-the-disease
#1
Michal Segal-Salto, Karin Hansson, Tamar Sapir, Anna Kaplan, Talia Levy, Michaela Schwizer, Michael Frotscher, Peter James, Orly Reiner
Mutations in the depalmitoylation enzyme, palmitoyl protein thioesterase (PPT1), result in the early onset neurodegenerative disease known as Infantile Neuronal Ceroid Lipofuscinosis. Here, we provide proteomic evidence suggesting that PPT1 deficiency could be considered as a ciliopathy. Analysis of membrane proteins from brain enriched for acylated proteins from neonate Ppt1 knock out and control mice revealed a list of 88 proteins with differential expression levels. Amongst them, we identified Rab3IP, which regulates ciliogenesis in concert with Rab8 and Rab11...
March 6, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28332779/intrafamilial-phenotypic-variability-in-a-polish-family-with-sensenbrenner-syndrome-and-biallelic-wdr35-mutations
#2
Joanna Walczak-Sztulpa, Anna Wawrocka, Agata Sobierajewicz, Lukasz Kuszel, Jan Zawadzki, Ryszard Grenda, Anna Swiader-Lesniak, Beata Kocyla-Karczmarewicz, Anna Wnuk, Anna Latos-Bielenska, Krystyna H Chrzanowska
Sensenbrenner syndrome (cranioectodermal dysplasia, CED) is a very rare autosomal recessive ciliopathy. Cranioectodermal dysplasia is characterized by craniofacial, skeletal, and ectodermal abnormalities. About 50 patients have been described to date. Sensenbrenner syndrome belongs to a group of ciliary chondrodysplasias and is a genetically heterogeneous disorder. Mutations in five genes: IFT122, WDR35, IFT43, WDR19, and IFT52 have been associated with CED. All known genes encode proteins that are part of the intraflagellar transport complex, which plays an important role in the assembly and maintenance of cilia...
March 23, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28332491/corrigendum-endocytic-recycling-protein-ehd1-regulates-primary-cilia-morphogenesis-and-shh-signaling-during-neural-tube-development
#3
Sohinee Bhattacharyya, Mark A Rainey, Priyanka Arya, Bhopal C Mohapatra, Insha Mushtaq, Samikshan Dutta, Manju George, Matthew D Storck, Rodney D McComb, David Muirhead, Gordon L Todd, Karen Gould, Kaustubh Datta, Janee Gelineau-van Waes, Vimla Band, Hamid Band
No abstract text is available yet for this article.
March 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28332184/primary-cilium-alterations-and-expression-changes-of-patched1-proteins-in-niemann-pick-type-c-disease
#4
Patrizia Formichi, Carla Battisti, Maria Margherita De Santi, Raffaella Guazzo, Sergio Antonio Tripodi, Elena Radi, Benedetta Rossi, Ermelinda Tarquini, Antonio Federico
Niemann-Pick type C disease (NPC) is a disorder characterized by abnormal intracellular accumulation of unesterified cholesterol and glycolipids. Two distinct disease-causing genes have been isolated, NPC1 and NPC2. The NPC1 protein is involved in the sorting and recycling of cholesterol and glycosphingolipids in the late endosomal/lysosomal system. It has extensive homology with the Patched 1 (Ptc1) receptor, a transmembrane protein localized in the primary cilium and involved in the Hedgehog signaling (Shh) pathway...
March 23, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28320755/ciliary-mechanisms-of-cyst-formation-in-polycystic-kidney-disease
#5
Ming Ma, Anna-Rachel Gallagher, Stefan Somlo
Autosomal-dominant polycystic kidney disease (ADPKD) is a disease of defective tissue homeostasis resulting in active remodeling of nephrons and bile ducts to form fluid-filled sacs called cysts. The causal genes PKD1 and PKD2 encode transmembrane proteins polycystin 1 (PC1) and polycystin 2 (PC2), respectively. Together, the polycystins localize to the solitary primary cilium that protrudes from the apical surface of most kidney tubule cells and is thought to function as a privileged compartment that the cell uses for signal integration of sensory inputs...
March 20, 2017: Cold Spring Harbor Perspectives in Biology
https://www.readbyqxmd.com/read/28318980/cell-specific-%C3%AE-tubulin-isotype-regulates-ciliary-microtubule-ultrastructure-intraflagellar-transport-and-extracellular-vesicle-biology
#6
Malan Silva, Natalia Morsci, Ken C Q Nguyen, Anza Rizvi, Christopher Rongo, David H Hall, Maureen M Barr
Cilia are found on most non-dividing cells in the human body and, when faulty, cause a wide range of pathologies called ciliopathies. Ciliary specialization in form and function is observed throughout the animal kingdom, yet mechanisms generating ciliary diversity are poorly understood. The "tubulin code"-a combination of tubulin isotypes and tubulin post-translational modifications-can generate microtubule diversity. Using C. elegans, we show that α-tubulin isotype TBA-6 sculpts 18 A- and B-tubule singlets from nine ciliary A-B doublet microtubules in cephalic male (CEM) neurons...
March 8, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28317394/an-update-on-the-pathophysiology-and-management-of-polycystic-liver-disease
#7
May Yw Wong, Geoffrey W McCaughan, Simone I Strasser
Polycystic liver disease (PLD) is characterized by the presence of multiple cholangiocyte-derived hepatic cysts that progressively replace liver tissue. They are classified as an inherited ciliopathy /cholangiopathy as pathology exists at the level of the primary cilia of cholangiocytes. Aberrant expression of the proteins in primary cilia can impair their structures and functions, thereby promoting cystogenesis. Areas covered: This review begins by looking at the epidemiology of PLD and its natural history...
March 18, 2017: Expert Review of Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28303622/morphology-and-phylogeny-of-the-soil-ciliate-metopus-yantaiensis-n-sp-ciliophora-metopida-with-identification-of-the-intracellular-bacteria
#8
Atef Omar, Qianqian Zhang, Songbao Zou, Jun Gong
The morphology and infraciliature of a new ciliate, Metopus yantaiensis n. sp., discovered in coastal soil of northern China, were investigated. It is distinguished from its congeners by a combination of the following features: nuclear apparatus situated in the preoral dome; 18-21 somatic ciliary rows, of which three extend onto the preoral dome (dome kineties); three to five distinctly elongated caudal cilia, and 21-29 adoral polykinetids. The 18S rRNA genes of this new species and two congeners, M. contortus and M...
March 17, 2017: Journal of Eukaryotic Microbiology
https://www.readbyqxmd.com/read/28302912/intraflagellar-transport-protein-ift52-recruits-ift46-to-the-basal-body-and-flagella
#9
Bo Lv, Lei Wan, Michael Taschner, Xi Cheng, Esben Lorentzen, Kaiyao Huang
Cilia are microtubule based organelles and perform motile, sensing and signaling functions. The assembly and maintenance of cilia depend on intraflagellar transport. Besides ciliary localization, most IFT proteins accumulate at basal bodies. However, little is known about the molecular mechanism of basal body targeting of IFT proteins. We first identified the possible basal body targeting sequence of IFT46 by expressing IFT46 truncations in ift46-1 mutant. The C-terminal sequence 246-321 aa, termed BBTS3, was sufficient to target YFPs to basal bodies in ift46-1 Interestingly, BBTS3 is also responsible for the ciliary targeting of IFT46...
March 16, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/28302668/sulphated-glycosaminoglycans-support-an-assortment-of-planarian-rhabdite-structures
#10
Matthew J Hayes
Planaria are soft-bodied, bilateral flatworms of the phylum Playhelminthes. They are covered in cilia and use ciliary-gliding to traverse the substratum while hunting. Their body surface is covered in a layer of viscous slime primarily derived from specialised secretory granules known as rhabdites. The slime must somehow stay associated with the surface of the animal in aqueous environments whilst also lubricating the interface of the animal and the surfaces over which the animal moves. The slime prevents damage to the animal's soft body and also contributes to adhesion to the substratum...
March 16, 2017: Biology Open
https://www.readbyqxmd.com/read/28301269/the-long-tale-of-the-calcium-activated-cl-channels-in-olfactory-transduction
#11
Michele Dibattista, Simone Pifferi, Anna Boccaccio, Anna Menini, Johannes Reisert
Ca(2+)-activated Cl(-) currents have been implicated in many cellular processes in different cells, but for many years, their molecular identity remained unknown. Particularly intriguing are Ca(2+)-activated Cl(-) currents in olfactory transduction, first described in the early 90s. Well characterized electrophysiologically, they carry most of the odorant-induced receptor current in the cilia of olfactory sensory neurons (OSNs). After many attempts to determine their molecular identity, TMEM16B was found to be abundantly expressed in the cilia of OSNs in 2009 and having biophysical properties like those of the native olfactory channel...
March 16, 2017: Channels
https://www.readbyqxmd.com/read/28298440/structural-basis-of-outer-dynein-arm-intraflagellar-transport-by-the-transport-adaptor-protein-oda16-and-the-intraflagellar-transport-protein-ift46
#12
Michael Taschner, André Mourão, Mayanka Awasthi, Jerome Basquin, Esben Lorentzen
Motile cilia are found on unicellular organisms such as the green alga Chlamydomonas reinhardtii, on sperm cells, and on cells that line the trachea and fallopian tubes in mammals. The motility of cilia relies on a number of large protein complexes including the force-generating outer dynein arms (ODAs). The transport of ODAs into cilia has been previously shown to require the transport adaptor ODA16 as well as the intraflagellar transport (IFT) protein IFT46, but the molecular mechanism by which ODAs are recognized and transported into motile cilia is still unclear...
March 15, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28293419/cilia-before-and-after
#13
REVIEW
Peter Satir
This is a history of cilia research before and after the discovery of intraflagellar transport (IFT) and the link between primary cilia ciliogenesis and polycystic kidney disease (PKD). Before IFT, ca. the beginning of the new millennium, although sensory and primary cilia were well described, research was largely focused on motile cilia, their structure, movement, and biogenesis. After IFT and the link to PKD, although work on motile cilia has continued to progress, research on primary cilia has exploded, leading to new insights into the role of cilia in cell signaling and development...
2017: Cilia
https://www.readbyqxmd.com/read/28292419/wnt-pcp-instructions-for-cilia-in-left-right-asymmetry
#14
Jun Wu, Marek Mlodzik
Wnt-Frizzled/planar cell polarity (PCP) signaling establishes cell orientation within the epithelial plane, but whether Wnts are instructive or permissive is debated. Reporting in Developmental Cell, Minegishi et al. (2017) uncover an instructive link from Wnt5a/b gradients to PCP-factor-regulated polarized cilia positioning that is essential to mouse embryo left-right asymmetry establishment.
March 13, 2017: Developmental Cell
https://www.readbyqxmd.com/read/28291836/unique-spatiotemporal-requirements-for-intraflagellar-transport-genes-during-forebrain-development
#15
John Snedeker, Elizabeth N Schock, Jamie N Struve, Ching-Fang Chang, Megan Cionni, Pamela V Tran, Samantha A Brugmann, Rolf W Stottmann
Primary cilia are organelles extended from virtually all cells and are required for the proper regulation of a number of canonical developmental pathways. The role in cortical development of proteins important for ciliary form and function is a relatively understudied area. Here we have taken a genetic approach to define the role in forebrain development of three intraflagellar transport proteins known to be important for primary cilia function. We have genetically ablated Kif3a, Ift88, and Ttc21b in a series of specific spatiotemporal domains...
2017: PloS One
https://www.readbyqxmd.com/read/28291807/the-meckel-syndrome-associated-protein-mks1-functionally-interacts-with-components-of-the-bbsome-and-ift-complexes-to-mediate-ciliary-trafficking-and-hedgehog-signaling
#16
Sarah C Goetz, Fiona Bangs, Chloe L Barrington, Nicholas Katsanis, Kathryn V Anderson
The importance of primary cilia in human health is underscored by the link between ciliary dysfunction and a group of primarily recessive genetic disorders with overlapping clinical features, now known as ciliopathies. Many of the proteins encoded by ciliopathy-associated genes are components of a handful of multi-protein complexes important for the transport of cargo to the basal body and/or into the cilium. A key question is whether different complexes cooperate in cilia formation, and whether they participate in cilium assembly in conjunction with intraflagellar transport (IFT) proteins...
2017: PloS One
https://www.readbyqxmd.com/read/28290481/identification-of-elongated-primary-cilia-with-impaired-mechanotransduction-in-idiopathic-scoliosis-patients
#17
Niaz Oliazadeh, Kristen F Gorman, Robert Eveleigh, Guillaume Bourque, Alain Moreau
The primary cilium is an outward projecting antenna-like organelle with an important role in bone mechanotransduction. The capacity to sense mechanical stimuli can affect important cellular and molecular aspects of bone tissue. Idiopathic scoliosis (IS) is a complex pediatric disease of unknown cause, defined by abnormal spinal curvatures. We demonstrate significant elongation of primary cilia in IS patient bone cells. In response to mechanical stimulation, these IS cells differentially express osteogenic factors, mechanosensitive genes, and signaling genes...
March 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28290230/cilia-and-ear
#18
Gioia Piatti, Maria Margherita De Santi, Sara Torretta, Lorenzo Pignataro, Daniela Soi, Umberto Ambrosetti
OBJECTIVE: To investigate the prevalence of otological complications derived from primary ciliary dyskinesia (PCD) in adulthood. METHODS: Twenty-three patients with diagnosed PCD underwent medical history aimed at recording the presence of ear, nose, and throat manifestations (ENT) and any surgical treatments. The ENT objectivity was annotated, and then patients were subjected to audiometric test, tympanometry, registration of otoacoustic emission, and vestibular evaluation...
April 2017: Annals of Otology, Rhinology, and Laryngology
https://www.readbyqxmd.com/read/28289724/flagellar-synchronization-is-a-simple-alternative-to-cell-cycle-synchronization-for-ciliary-and-flagellar-studies
#19
Soumita Dutta, Prachee Avasthi
The unicellular green alga Chlamydomonas reinhardtii is an ideal model organism for studies of ciliary function and assembly. In assays for biological and biochemical effects of various factors on flagellar structure and function, synchronous culture is advantageous for minimizing variability. Here, we have characterized a method in which 100% synchronization is achieved with respect to flagellar length but not with respect to the cell cycle. The method requires inducing flagellar regeneration by amputation of the entire cell population and limiting regeneration time...
March 2017: MSphere
https://www.readbyqxmd.com/read/28289722/assessment-of-ciliary-phenotype-in-primary-ciliary-dyskinesia-by-micro-optical-coherence-tomography
#20
George M Solomon, Richard Francis, Kengyeh K Chu, Susan E Birket, George Gabriel, John E Trombley, Kristi L Lemke, Nikolai Klena, Brett Turner, Guillermo J Tearney, Cecilia W Lo, Steven M Rowe
Ciliary motion defects cause defective mucociliary transport (MCT) in primary ciliary dyskinesia (PCD). Current diagnostic tests do not assess how MCT is affected by perturbation of ciliary motion. In this study, we sought to use micro-optical coherence tomography (μOCT) to delineate the mechanistic basis of cilia motion defects of PCD genes by functional categorization of cilia motion. Tracheae from three PCD mouse models were analyzed using μOCT to characterize ciliary motion and measure MCT. We developed multiple measures of ciliary activity, integrated these measures, and quantified dyskinesia by the angular range of the cilia effective stroke (ARC)...
March 9, 2017: JCI Insight
keyword
keyword
5312
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"