Literature DB >> 21680046

Centrosomes and cilia in human disease.

Mónica Bettencourt-Dias1, Friedhelm Hildebrandt, David Pellman, Geoff Woods, Susana A Godinho.   

Abstract

Centrioles are microtubule-derived structures that are essential for the formation of centrosomes, cilia and flagella. The centrosome is the major microtubule organiser in animal cells, participating in a variety of processes, from cell polarisation to cell division, whereas cilia and flagella contribute to several mechanisms in eukaryotic cells, from motility to sensing. Although it was suggested more than a century ago that these microtubule-derived structures are involved in human disease, the molecular bases of this association have only recently been discovered. Surprisingly, there is very little overlap between the genes affected in the different diseases, suggesting that there are tissue-specific requirements for these microtubule-derived structures. Knowledge of these requirements and disease mechanisms has opened new avenues for therapeutical strategies. Here, we give an overview of recent developments in this field, focusing on cancer, diseases of brain development and ciliopathies.
Copyright © 2011 Elsevier Ltd. All rights reserved.

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Year:  2011        PMID: 21680046      PMCID: PMC3144269          DOI: 10.1016/j.tig.2011.05.004

Source DB:  PubMed          Journal:  Trends Genet        ISSN: 0168-9525            Impact factor:   11.639


  95 in total

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3.  Fibrocystin/polyductin modulates renal tubular formation by regulating polycystin-2 expression and function.

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Journal:  J Am Soc Nephrol       Date:  2008-01-30       Impact factor: 10.121

4.  A critical developmental switch defines the kinetics of kidney cyst formation after loss of Pkd1.

Authors:  Klaus Piontek; Luis F Menezes; Miguel A Garcia-Gonzalez; David L Huso; Gregory G Germino
Journal:  Nat Med       Date:  2007-10-28       Impact factor: 53.440

5.  Mutations in the pericentrin (PCNT) gene cause primordial dwarfism.

Authors:  Anita Rauch; Christian T Thiel; Detlev Schindler; Ursula Wick; Yanick J Crow; Arif B Ekici; Anthonie J van Essen; Timm O Goecke; Lihadh Al-Gazali; Krystyna H Chrzanowska; Christiane Zweier; Han G Brunner; Kristin Becker; Cynthia J Curry; Bruno Dallapiccola; Koenraad Devriendt; Arnd Dörfler; Esther Kinning; André Megarbane; Peter Meinecke; Robert K Semple; Stephanie Spranger; Annick Toutain; Richard C Trembath; Egbert Voss; Louise Wilson; Raoul Hennekam; Francis de Zegher; Helmuth-Günther Dörr; André Reis
Journal:  Science       Date:  2008-01-03       Impact factor: 47.728

6.  Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.

Authors:  Carsten Bergmann; Manfred Fliegauf; Nadina Ortiz Brüchle; Valeska Frank; Heike Olbrich; Jan Kirschner; Bernhard Schermer; Ingolf Schmedding; Andreas Kispert; Bettina Kränzlin; Gudrun Nürnberg; Christian Becker; Tiemo Grimm; Gundula Girschick; Sally A Lynch; Peter Kelehan; Jan Senderek; Thomas J Neuhaus; Thomas Stallmach; Hanswalter Zentgraf; Peter Nürnberg; Norbert Gretz; Cecilia Lo; Soeren Lienkamp; Tobias Schäfer; Gerd Walz; Thomas Benzing; Klaus Zerres; Heymut Omran
Journal:  Am J Hum Genet       Date:  2008-03-27       Impact factor: 11.025

7.  From centriole biogenesis to cellular function: centrioles are essential for cell division at critical developmental stages.

Authors:  Ana Rodrigues-Martins; Maria Riparbelli; Giuliano Callaini; David M Glover; Monica Bettencourt-Dias
Journal:  Cell Cycle       Date:  2007-10-26       Impact factor: 4.534

8.  Acute kidney injury and aberrant planar cell polarity induce cyst formation in mice lacking renal cilia.

Authors:  Vishal Patel; Ling Li; Patricia Cobo-Stark; Xinli Shao; Stefan Somlo; Fangming Lin; Peter Igarashi
Journal:  Hum Mol Genet       Date:  2008-02-09       Impact factor: 6.150

9.  The role of centrosomes and astral microtubules during asymmetric division of Drosophila neuroblasts.

Authors:  M G Giansanti; M Gatti; S Bonaccorsi
Journal:  Development       Date:  2001-04       Impact factor: 6.868

10.  Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling.

Authors:  Elen Griffith; Sarah Walker; Carol-Anne Martin; Paola Vagnarelli; Tom Stiff; Bertrand Vernay; Nouriya Al Sanna; Anand Saggar; Ben Hamel; William C Earnshaw; Penny A Jeggo; Andrew P Jackson; Mark O'Driscoll
Journal:  Nat Genet       Date:  2007-12-23       Impact factor: 38.330

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  169 in total

1.  Centrosome amplification and chromosomal instability in human and animal parthenogenetic cell lines.

Authors:  Tiziana A L Brevini; Georgia Pennarossa; Sara Maffei; Gianluca Tettamanti; Arianna Vanelli; Sara Isaac; Amir Eden; Sergio Ledda; Magda de Eguileor; Fulvio Gandolfi
Journal:  Stem Cell Rev Rep       Date:  2012-12       Impact factor: 5.739

2.  ATF5 is an essential protein in the centrosome.

Authors:  Kathleen Lengel; Eugene Kim; David X Liu
Journal:  Cell Cycle       Date:  2015       Impact factor: 4.534

Review 3.  The Janus soul of centrosomes: a paradoxical role in disease?

Authors:  Maddalena Nano; Renata Basto
Journal:  Chromosome Res       Date:  2016-01       Impact factor: 5.239

Review 4.  Exploring the genetic basis of early-onset chronic kidney disease.

Authors:  Asaf Vivante; Friedhelm Hildebrandt
Journal:  Nat Rev Nephrol       Date:  2016-01-11       Impact factor: 28.314

5.  Poc1A and Poc1B act together in human cells to ensure centriole integrity.

Authors:  Magali Venoux; Xavier Tait; Rebecca S Hames; Kees R Straatman; Hugh R Woodland; Andrew M Fry
Journal:  J Cell Sci       Date:  2012-09-26       Impact factor: 5.285

Review 6.  Clinically Applicable Inhibitors Impacting Genome Stability.

Authors:  Anu Prakash; Juan F Garcia-Moreno; James A L Brown; Emer Bourke
Journal:  Molecules       Date:  2018-05-13       Impact factor: 4.411

7.  Centrosomal abnormalities characterize human and rodent cystic cholangiocytes and are associated with Cdc25A overexpression.

Authors:  Tatyana V Masyuk; Seung-Ok Lee; Brynn N Radtke; Angela J Stroope; Bing Huang; Jesús M Banales; Anatoliy I Masyuk; Patrick L Splinter; Sergio A Gradilone; Gabriella B Gajdos; Nicholas F LaRusso
Journal:  Am J Pathol       Date:  2013-11-07       Impact factor: 4.307

Review 8.  A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature.

Authors:  Melinda Zombor; Tibor Kalmár; Nikoletta Nagy; Marianne Berényi; Borbála Telcs; Zoltán Maróti; Oliver Brandau; László Sztriha
Journal:  J Appl Genet       Date:  2019-02-01       Impact factor: 3.240

9.  Sfr13, a member of a large family of asymmetrically localized Sfi1-repeat proteins, is important for basal body separation and stability in Tetrahymena thermophila.

Authors:  Alexander J Stemm-Wolf; Janet B Meehl; Mark Winey
Journal:  J Cell Sci       Date:  2013-02-20       Impact factor: 5.285

10.  CCDC41 is required for ciliary vesicle docking to the mother centriole.

Authors:  Kwangsic Joo; Chang Gun Kim; Mi-Sun Lee; Hyun-Yi Moon; Sang-Hee Lee; Mi Jeong Kim; Hee-Seok Kweon; Woong-Yang Park; Cheol-Hee Kim; Joseph G Gleeson; Joon Kim
Journal:  Proc Natl Acad Sci U S A       Date:  2013-03-25       Impact factor: 11.205

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