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10 documents found
1: Title: ALMS1 and Alström syndrome: a recessive form of metabolic, neurosensory and cardiac deficits.
Authors: Hearn, Tom .
Journal: Journal of molecular medicine (Berlin, Germany) (J Mol Med), Vol. 97 (1): 1-17, 2019 .
Snippet: Alström syndrome (AS) is characterised by metabolic deficits, retinal dystrophy, sensorineural hearing loss, dilated cardiomyopathy and multi-organ fibrosis.
Affiliation: Institute of Life Science, Swansea University Medical School, Singleton Park, Swansea, SA2 8PP, UK. tom.hearn@outlook.com. .
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2: Title: PPP1R35 ensures centriole homeostasis by promoting centriole-to-centrosome conversion.
Authors: Fong, Chii Shyang, et.al. .
Journal: Molecular biology of the cell (Mol Biol Cell), Vol. 29 (23): 2801-2808, 2018 .
Snippet: In the absence of PPP1R35, centriole assembly initiates normally in S phase, but none of the nascent centrioles can form active centrosomes or recruit CEP295, an essential factor for CCC.
Affiliation: Cell Biology Program, Memorial Sloan Kettering Cancer Center, New York, NY 10065. Weill Cornell Graduate School of Medical Sciences, Cornell University, New York, NY 10065. .
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3: Title: Human microcephaly protein RTTN interacts with STIL and is required to build full-length centrioles.
Authors: Chen, Hsin-Yi, et.al. .
Journal: Nature communications (Nat Commun), Vol. 8 (1): 247, 2017 .
Snippet: Additional analyses show that RTTN serves as an upstream effector of CEP295, which mediates the loading of POC1B and POC5 to the distal-half centrioles.
Affiliation: Graduate Institution of Life Sciences, National Defense Medical Center, Taipei, Taiwan. Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan. Taiwan International Graduate Program in Interdisciplinary Neuroscience, National Yang-Ming University and Academia Sinica, Taipei, Taiwan. Institute of Biochemistry and Molecular Biology, College of Life Sciences, National Yang-Ming University, Taipei, Taiwan. Graduate Institution of Life Sciences, National Defense Medical Center, Taipei, Taiwan. tktang@ibms.sinica.edu.tw. Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan. tktang@ibms.sinica.edu.tw. Taiwan International Graduate Program in Interdisciplinary Neuroscience, National Yang-Ming University and Academia Sinica, Taipei, Taiwan. tktang@ibms.sinica.edu.tw. .
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4: Title: Cep295 is a conserved scaffold protein required for generation of a bona fide mother centriole.
Authors: Tsuchiya, Yuki, et.al. .
Journal: Nature communications (Nat Commun), Vol. 7, 2016 .
Snippet: Here we show that Cep295, an evolutionarily conserved protein, is required for generation of a bona fide mother centriole organizing a functional centrosome.
Affiliation: Department of Molecular Genetics, Division of Centrosome Biology, National Institute of Genetics, Mishima, Shizuoka 411-8540, Japan. Department of Genetics, School of Life Science, The Graduate University for Advanced Studies (SOKENDAI), Mishima, Shizuoka 411-8540, Japan. .
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5: Title: How the newborn centriole becomes a mother.
Authors: Fu, Jingyan, et.al. .
Journal: Cell cycle (Georgetown, Tex.) (Cell Cycle), Vol. 15 (12): 1521-2, 2016 .
No Abstract available.
Affiliation: a Department of Genetics , University of Cambridge , Cambridge , UK. .
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6: Title: Drosophila Ana1 is required for centrosome assembly and centriole elongation.
Authors: Saurya, Saroj, et.al. .
Journal: Journal of cell science (J Cell Sci), Vol. 129 (13): 2514-25, 2016 .
Snippet: It has recently been shown that Cep135 (also known as Bld10) initially recruits Ana1 to newly formed centrioles, and that Ana1 then recruits Asl (known as Cep152 in mammals) to promote the conversion of these centrioles into centrosomes.
Affiliation: Sir William Dunn School of Pathology, University of Oxford, South Parks Road, Oxford OX1 3RE, UK. Micron Oxford Advanced Bioimaging Unit, Department of Biochemistry, University of Oxford, South Parks Road, Oxford OX1 3QU, UK. Sir William Dunn School of Pathology, University of Oxford, South Parks Road, Oxford OX1 3RE, UK jordan.raff@path.ox.ac.uk. .
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7: Title: CEP295 interacts with microtubules and is required for centriole elongation.
Authors: Chang, Ching-Wen, et.al. .
Journal: Journal of cell science (J Cell Sci), Vol. 129 (13): 2501-13, 2016 .
Snippet: Using super-resolution and immunogold electron microscopy, we demonstrate that CEP295 is recruited to the proximal end of procentrioles in early S phase, when it is also localized at the centriolar microtubule wall that surrounds the human SAS6 cartwheel hub.
Affiliation: Institute of Biomedical Sciences, Academia Sinica, Taipei 11529, Taiwan. Institute of Biomedical Sciences, Academia Sinica, Taipei 11529, Taiwan tktang@ibms.sinica.edu.tw. .
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8: Title: Conserved molecular interactions in centriole-to-centrosome conversion.
Authors: Fu, Jingyan, et.al. .
Journal: Nature cell biology (Nat Cell Biol), Vol. 18 (1): 87-99, 2016 .
Snippet: Here we show that centriole-to-centrosome conversion requires sequential loading of Cep135, Ana1 (Cep295) and Asterless (Cep152) onto daughter centrioles during mitotic progression in both Drosophila melanogaster and human.
Affiliation: Department of Genetics, University of Cambridge, Cambridge CB2 3EH, UK. Department of Life Sciences, University of Siena, Via A. Moro 4, 53100 Siena, Italy. .
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9: Title: Gene-based meta-analysis of genome-wide association studies implicates new loci involved in obesity.
Authors: Hägg, Sara, et.al. .
Journal: Human molecular genetics (Hum Mol Genet), Vol. 24 (23): 6849-60, 2015 .
Snippet: In Stage 1, two known (FTO and TMEM18) and six novel (PEX2, MTFR2, SSFA2, IARS2, CEP295 and TXNDC12) loci were associated with BMI (P < 2.8 × 10(-6) for 17 941 gene tests).
Affiliation: Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden, Molecular Epidemiology and Science for Life Laboratory, Department of Medical Sciences, Uppsala University, SE-751 41 Uppsala, Sweden. Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA, Analytical and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA. Laboratory of Experimental Cardiology, Division of Heart and Lungs, University Medical Center Utrecht, Utrecht 3584 CX, The Netherlands. Divisions of Endocrinology and Genetics and Center for Basic and Translational Obesity Research, Boston Children's Hospital, Boston, MA 02115, USA, Broad Institute of the Massachusetts Institute of Technology and Harvard University, Cambridge, MA 02142, USA, Department of Genetics, Harvard Medical School, Boston, MA 02115, USA, Estonian Genome Center, University of Tartu, Tartu 51010, Estonia. Divisions of Endocrinology and Genetics and Center for Basic and Translational Obesity Research, Boston Children's Hospital, Boston, MA 02115, USA, Broad Institute of the Massachusetts Institute of Technology and Harvard University, Cambridge, MA 02142, USA, Department of Genetics, Harvard Medical School, Boston, MA 02115, USA, Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark, Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, Copenhagen, Denmark. Center for Statistical Genetics, Department of Biostatistics. Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA. Department of Epidemiology. Department of Internal Medicine, Division of Gastroenterology, Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI 48109, USA. Laboratory of Experimental Cardiology, Division of Heart and Lungs, University Medical Center Utrecht, Utrecht 3584 CX, The Netherlands, Laboratory of Clinical Chemistry and Hematology, Division Laboratories & Pharmacy, UMC Utrecht, Utrecht, The Netherlands. St George's, University of London, London SW17 0RE, UK. Department of Epidemiology, Carolina Center for Genome Sciences, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA. MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Addenbrooke's Hospital, Hills Road, Cambridge CB2 0QQ, UK, The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA, The Genetics of Obesity and Related Metabolic Traits Program, The Mindich Child Health and Development Institute. Divisions of Endocrinology and Genetics and Center for Basic and Translational Obesity Research, Boston Children's Hospital, Boston, MA 02115, USA, Broad Institute of the Massachusetts Institute of Technology and Harvard University, Cambridge, MA 02142, USA, Department of Genetics, Harvard Medical School, Boston, MA 02115, USA. Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden. Molecular Epidemiology and Science for Life Laboratory, Department of Medical Sciences, Uppsala University, SE-751 41 Uppsala, Sweden, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK and Department of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA erik.ingelsson@medsci.uu.se. .
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10: Title: Stabilization of Cartwheel-less Centrioles for Duplication Requires CEP295-Mediated Centriole-to-Centrosome Conversion.
Authors: Izquierdo, Denisse, et.al. .
Journal: Cell reports (Cell Rep), Vol. 8 (4): 957-65, 2014 .
Snippet: In the absence of CEP295, centrioles form in the S/G2 phase and lose their associated cartwheel in mitosis but cannot be converted to centrosomes, uncoupling the two events.
Affiliation: Cell Biology Program, Memorial Sloan-Kettering Cancer Center, New York, NY 10065, USA; Weill Cornell Graduate School of Medical Sciences, Cornell University, New York, NY 10065, USA. Cell Biology Program, Memorial Sloan-Kettering Cancer Center, New York, NY 10065, USA. Electron Microscopy Resource Center, Rockefeller University, New York, NY 10065, USA. Cell Biology Program, Memorial Sloan-Kettering Cancer Center, New York, NY 10065, USA; Weill Cornell Graduate School of Medical Sciences, Cornell University, New York, NY 10065, USA. Electronic address: tsoum@mskcc.org. .
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