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primary cilia brain

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https://www.readbyqxmd.com/read/28379358/loss-of-dynein-2-intermediate-chain-wdr34-results-in-defects-in-retrograde-ciliary-protein-trafficking-and-hedgehog-signaling-in-the-mouse
#1
Chuanqing Wu, Jia Li, Andrew Peterson, Kaixiong Tao, Baolin Wang
The Wdr34 gene encodes an intermediate chain of cytoplasmic dynein 2, the motor for retrograde intraflagellar transport (IFT) in primary cilia. Although mutations in human WDR34 have recently been reported, the association of WDR34 function with Hedgehog (Hh) signaling has not been established, and actual cilia defects in the WDR34 mutant cells have also not been completely characterized. In the present study, we show that Wdr34 mutant mice die in midgestation and exhibit open brain and polydactyly phenotypes...
March 31, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28371265/oral-facial-digital-syndrome-type-1-in-males-congenital-heart-defects-are-included-in-its-phenotypic-spectrum
#2
Arjan Bouman, Mariëlle Alders, Roelof Jan Oostra, Elisabeth van Leeuwen, Nikki Thuijs, Anne-Marie van der Kevie-Kersemaekers, Merel van Maarle
Oral-facial-digital syndrome type 1 (OFD1; OMIM# 311200) is an X-linked dominant ciliopathy caused by mutations in the OFD1 gene. This condition is characterized by facial anomalies and abnormalities of oral tissues, digits, brain, and kidneys. Almost all affected patients are female, as OFD1 is presumed to be lethal in males, mostly in the first or second trimester of pregnancy. Live born males with OFD1 are a rare occurrence, with only five reported patients to date. In four patients the presence of a congenital heart defect (CHD) was observed...
April 3, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28291836/unique-spatiotemporal-requirements-for-intraflagellar-transport-genes-during-forebrain-development
#3
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/28125008/primary-cilia-as-a-possible-link-between-left-right-asymmetry-and-neurodevelopmental-diseases
#4
REVIEW
Andrey Trulioff, Alexander Ermakov, Yegor Malashichev
Cilia have multiple functions in the development of the entire organism, and participate in the development and functioning of the central nervous system. In the last decade, studies have shown that they are implicated in the development of the visceral left-right asymmetry in different vertebrates. At the same time, some neuropsychiatric disorders, such as schizophrenia, autism, bipolar disorder, and dyslexia, are known to be associated with lateralization failure. In this review, we consider possible links in the mechanisms of determination of visceral asymmetry and brain lateralization, through cilia...
January 25, 2017: Genes
https://www.readbyqxmd.com/read/28087224/5-ht6-receptor-blockade-regulates-primary-cilia-morphology-in-striatal-neurons
#5
Matthew Brodsky, Adam J Lesiak, Alex Croicu, Nathalie Cohenca, Jane M Sullivan, John F Neumaier
The 5-HT6 receptor has been implicated in a variety of cognitive processes including habitual behaviors, learning, and memory. It is found almost exclusively in the brain, is expressed abundantly in striatum, and localizes to neuronal primary cilia. Primary cilia are antenna-like, sensory organelles found on most neurons that receive both chemical and mechanical signals from other cells and the surrounding environment; however, the effect of 5-HT6 receptor function on cellular morphology has not been examined...
April 1, 2017: Brain Research
https://www.readbyqxmd.com/read/28067220/bi-and-uniciliated-ependymal-cells-define-continuous-floor-plate-derived-tanycytic-territories
#6
Zaman Mirzadeh, Yael Kusne, Maria Duran-Moreno, Elaine Cabrales, Sara Gil-Perotin, Christian Ortiz, Bin Chen, Jose Manuel Garcia-Verdugo, Nader Sanai, Arturo Alvarez-Buylla
Multiciliated ependymal (E1) cells line the brain ventricles and are essential for brain homeostasis. We previously identified in the lateral ventricles a rare ependymal subpopulation (E2) with only two cilia and unique basal bodies. Here we show that E2 cells form a distinct biciliated epithelium extending along the ventral third into the fourth ventricle. In the third ventricle floor, apical profiles with only primary cilia define an additional uniciliated (E3) epithelium. E2 and E3 cells' ultrastructure, marker expression and basal processes indicate that they correspond to subtypes of tanycytes...
January 9, 2017: Nature Communications
https://www.readbyqxmd.com/read/27999145/progress-in-ciliary-ion-channel-physiology
#7
Juan Lorenzo Pablo, Paul G DeCaen, David E Clapham
Mammalian cilia are ubiquitous appendages found on the apical surface of cells. Primary and motile cilia are distinct in both morphology and function. Most cells have a solitary primary cilium (9+0), which lacks the central microtubule doublet characteristic of motile cilia (9+2). The immotile primary cilia house unique signaling components and sequester several important transcription factors. In contrast, motile cilia commonly extend into the lumen of respiratory airways, fallopian tubes, and brain ventricles to move their contents and/or produce gradients...
January 2017: Journal of General Physiology
https://www.readbyqxmd.com/read/27993979/mtorc1-signaling-and-primary-cilia-are-required-for-brain-ventricle-morphogenesis
#8
Philippe Foerster, Marie Daclin, Shihavuddin Asm, Marion Faucourt, Alessandra Boletta, Auguste Genovesio, Nathalie Spassky
Radial glial cells (RCGs) are self-renewing progenitor cells that give rise to neurons and glia during embryonic development. Throughout neurogenesis, these cells contact the cerebral ventricles and bear a primary cilium. Although the role of the primary cilium in embryonic patterning has been studied, its role in brain ventricular morphogenesis is poorly characterized. Using conditional mutants, we show that the primary cilia of radial glia determine the size of the surface of their ventricular apical domain through regulation of the mTORC1 pathway...
January 15, 2017: Development
https://www.readbyqxmd.com/read/27793968/ciliopathies
#9
Daniela A Braun, Friedhelm Hildebrandt
Nephronophthisis-related ciliopathies (NPHP-RC) are a group of inherited diseases that affect genes encoding proteins that localize to primary cilia or centrosomes. With few exceptions, ciliopathies are inherited in an autosomal recessive manner, and affected individuals manifest early during childhood or adolescence. NPHP-RC are genetically very heterogeneous, and, currently, mutations in more than 90 genes have been described as single-gene causes. The phenotypes of NPHP-RC are very diverse, and include cystic-fibrotic kidney disease, brain developmental defects, retinal degeneration, skeletal deformities, facial dimorphism, and, in some cases, laterality defects, and congenital heart disease...
October 28, 2016: Cold Spring Harbor Perspectives in Biology
https://www.readbyqxmd.com/read/27785336/type-3-adenylyl-cyclase-a-key-enzyme-mediating-the-camp-signaling-in-neuronal-cilia
#10
REVIEW
Liyan Qiu, Robert P LeBel, Daniel R Storm, Xuanmao Chen
Cilia are rigid, centriole-derived, microtubule-based organelles present in a majority of vertebrate cells including neurons. They are considered the cellular "antennae" attuned for detecting a range of extracellular signals including photons, odorants, morphogens, hormones and mechanical forces. The ciliary microenvironment is distinct from most actin-based subcellular structures such as microvilli or synapses. In the nervous system, there is no evidence that neuronal cilia process any synaptic structure. Apparently, the structural features of neuronal cilia do not allow them to harbor any synaptic connections...
2016: International Journal of Physiology, Pathophysiology and Pharmacology
https://www.readbyqxmd.com/read/27651963/an-atypical-presentation-of-a-male-with-oral-facial-digital-syndrome-type-1-related-ciliopathy
#11
Sheena Sharma, Jennifer M Kalish, Ethan M Goldberg, Francis Jeshira Reynoso, Madhura Pradhan
Background. Oral-facial-digital syndrome type 1 (OFD1) is a rare condition with X-linked dominant inheritance caused by mutations in the Cxorf5 (OFD1) gene. This gene encodes the OFD1 protein located within centrosomes and basal bodies of primary cilia. Approximately 15-50% of patients with OFD1 progress to end-stage kidney disease following development of polycystic changes within the kidneys. This condition almost always causes intrauterine lethality in males. Description of Case Diagnosis and Treatment. A Caucasian male aged 9 years and 9 months presented with increased urinary frequency, increased thirst, and decreased appetite...
2016: Case Reports in Nephrology
https://www.readbyqxmd.com/read/27553190/severe-nde1-mediated-microcephaly-results-from-neural-progenitor-cell-cycle-arrests-at-multiple-specific-stages
#12
David J Doobin, Shahrnaz Kemal, Tiago J Dantas, Richard B Vallee
Microcephaly is a cortical malformation disorder characterized by an abnormally small brain. Recent studies have revealed severe cases of microcephaly resulting from human mutations in the NDE1 gene, which is involved in the regulation of cytoplasmic dynein. Here using in utero electroporation of NDE1 short hairpin RNA (shRNA) in embryonic rat brains, we observe cell cycle arrest of proliferating neural progenitors at three distinct stages: during apical interkinetic nuclear migration, at the G2-to-M transition and in regulation of primary cilia at the G1-to-S transition...
August 24, 2016: Nature Communications
https://www.readbyqxmd.com/read/27303293/type-3-adenylyl-cyclase-and-somatostatin-receptor-3-expression-persists-in-aged-rat-neocortical-and-hippocampal-neuronal-cilia
#13
Sarah M Guadiana, Alexander K Parker, Gileno F Filho, Ashton Sequeira, Susan Semple-Rowland, Gerry Shaw, Ronald J Mandel, Thomas C Foster, Ashok Kumar, Matthew R Sarkisian
The primary cilia of forebrain neurons assemble around birth and become enriched with neuromodulatory receptors. Our understanding of the permanence of these structures and their associated signaling pathways in the aging brain is poor, but they are worthy of investigation because disruptions in neuronal cilia signaling have been implicated in changes in learning and memory, depression-like symptoms, and sleep anomalies. Here, we asked whether neurons in aged forebrain retain primary cilia and whether the staining characteristics of aged cilia for type 3 adenylyl cyclase (ACIII), somatostatin receptor 3 (SSTR3), and pericentrin resemble those of cilia in younger forebrain...
2016: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/27209022/complement-system-activation-contributes-to-the-ependymal-damage-induced-by-microbial-neuraminidase
#14
Pablo Granados-Durán, María Dolores López-Ávalos, Timothy R Hughes, Krista Johnson, B Paul Morgan, Paul P Tamburini, Pedro Fernández-Llebrez, Jesús M Grondona
BACKGROUND: In the rat brain, a single intracerebroventricular injection of neuraminidase from Clostridium perfringens induces ependymal detachment and death. This injury occurs before the infiltration of inflammatory blood cells; some reports implicate the complement system as a cause of these injuries. Here, we set out to test the role of complement. METHODS: The assembly of the complement membrane attack complex on the ependymal epithelium of rats injected with neuraminidase was analyzed by immunohistochemistry...
2016: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/27141300/update-on-oral-facial-digital-syndromes-ofds
#15
REVIEW
Brunella Franco, Christel Thauvin-Robinet
Oral-facial-digital syndromes (OFDS) represent a heterogeneous group of rare developmental disorders affecting the mouth, the face and the digits. Additional signs may involve brain, kidneys and other organs thus better defining the different clinical subtypes. With the exception of OFD types I and VIII, which are X-linked, the majority of OFDS is transmitted as an autosomal recessive syndrome. A number of genes have already found to be mutated in OFDS and most of the encoded proteins are predicted or proven to be involved in primary cilia/basal body function...
2016: Cilia
https://www.readbyqxmd.com/read/26999738/sonic-hedgehog-promotes-proliferation-of-notch-dependent-monociliated-choroid-plexus-tumour-cells
#16
Li Li, Katie B Grausam, Jun Wang, Melody P Lun, Jasmin Ohli, Hart G W Lidov, Monica L Calicchio, Erliang Zeng, Jeffrey L Salisbury, Robert J Wechsler-Reya, Maria K Lehtinen, Ulrich Schüller, Haotian Zhao
Aberrant Notch signalling has been linked to many cancers including choroid plexus (CP) tumours, a group of rare and predominantly paediatric brain neoplasms. We developed animal models of CP tumours, by inducing sustained expression of Notch1, that recapitulate properties of human CP tumours with aberrant NOTCH signalling. Whole-transcriptome and functional analyses showed that tumour cell proliferation is associated with Sonic Hedgehog (Shh) in the tumour microenvironment. Unlike CP epithelial cells, which have multiple primary cilia, tumour cells possess a solitary primary cilium as a result of Notch-mediated suppression of multiciliate differentiation...
April 2016: Nature Cell Biology
https://www.readbyqxmd.com/read/26940245/expanding-the-phenotype-of-rttn-varations-a-new-family-with-primary-microcephaly-severe-growth-failure-brain-malformations-and-dermatitis
#17
Anna Grandone, Annalaura Torella, Claudia Santoro, Teresa Giugliano, Francesca Del Vecchio Blanco, Margherita Mutarelli, Mario Cirillo, Grazia Cirillo, Giulio Piluso, Carlo Capristo, Adalgisa Festa, Pierluigi Marzuillo, Emanuele Miraglia Del Giudice, Laura Perrone, Vincenzo Nigro
Primary autosomal recessive microcephaly (MCPH) is a developmental disorder characterized by prenatal onset of abnormal brain growth. MCPH occurs both alone and as part of a broad range of neurodevelopmental syndromes with or without cortical malformations and growth retardation. Here we report a consanguineous Moroccan family with two siblings affected by severe primary microcephaly, failure to thrive, congenital dermatitis and severe developmental delay. Brain MRI showed lissencephaly of frontal lobes and periventricular heterotopia of the grey matter...
March 4, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/26880018/a-homozygous-nonsense-variant-in-ift52-is-associated-with-a-human-skeletal-ciliopathy
#18
Katta Mohan Girisha, Anju Shukla, Daniel Trujillano, Gandham SriLakshmi Bhavani, Malavika Hebbar, Rajagopal Kadavigere, Arndt Rolfs
Intraflagellar transport (IFT) is vital for the functioning of primary cilia. Defects in several components of IFT complexes cause a spectrum of ciliopathies with variable involvement of skeleton, brain, eyes, ectoderm and kidneys. We examined a child from a consanguineous family who had short stature, narrow thorax, short hands and feet, post-axial polydactyly of hands, pigmentary retinopathy, small teeth and skeletal dysplasia. The clinical phenotype of the child shows significant overlap with cranioectodermal dysplasia type I (Sensenbrenner syndrome)...
February 16, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/26710751/interkinetic-nuclear-migration-in-the-mouse-embryonic-ureteric-epithelium-possible-implication-for-congenital-anomalies-of-the-kidney-and-urinary-tract
#19
Tomoyuki Motoya, Noriko Ogawa, Tetsuya Nitta, Ashiq Mahmood Rafiq, Esrat Jahan, Motohide Furuya, Akihiro Matsumoto, Jun Udagawa, Hiroki Otani
Interkinetic nuclear migration (INM) is a phenomenon in which progenitor cell nuclei migrate along the apico-basal axis of the pseudostratified epithelium, which is characterized by the presence of apical primary cilia, in synchrony with the cell cycle in a manner of apical mitosis. INM is suggested to regulate not only stem/progenitor cell proliferation/differentiation but also organ size and shape. INM has been reported in epithelia of both ectoderm and endoderm origin. We examined whether INM exists in the mesoderm-derived ureteric epithelium...
May 2016: Congenital Anomalies
https://www.readbyqxmd.com/read/26700226/intracellular-localization-of-%C3%AE-tubulin-acetyltransferase-atat1-in-rat-ciliated-cells
#20
Takashi Nakakura, Takeshi Suzuki, Takahiro Nemoto, Hideyuki Tanaka, Anshin Asano-Hoshino, Kenjiro Arisawa, Yoshimi Nishijima, Yoshiko Kiuchi, Haruo Hagiwara
Cilia are microtubule-based hair-like organelles on basal bodies located beneath the cell membrane in various tissues of multicellular animals, and are usually classified into motile cilia and primary cilia. Microtubules are assembled from the heterodimers of α- and β-tubulin. The lysine residue at position 40 (K40) of α-tubulin is an important site for acetylation, and this site is acetylated in the cilium. α-Tubulin N-acetyltransferase 1 (ATAT1) is an acetyltransferase specific to the K40 residue of α-tubulin; however, its intracellular distribution in mammalian tissues remains unclear...
September 2016: Medical Molecular Morphology
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