34 results found
Saeed S, Bonnefond A, Tamanini F, et al., 2018, Loss-of-function mutations in ADCY3 cause monogenic severe obesity, NATURE GENETICS, Vol: 50, Pages: 175-179, ISSN: 1061-4036
Study of monogenic forms of obesity has demonstrated the pivotal role of the central leptin–melanocortin pathway in controlling energy balance, appetite and body weight1. The majority of loss-of-function mutations (mostly recessive or co-dominant) have been identified in genes that are directly involved in leptin–melanocortin signaling. These genes, however, only explain obesity in <5% of cases, predominantly from outbred populations2. We previously showed that, in a consanguineous population in Pakistan, recessive mutations in known obesity-related genes explain ~30% of cases with severe obesity3,4,5. These data suggested that new monogenic forms of obesity could also be identified in this population. Here we identify and functionally characterize homozygous mutations in the ADCY3 gene encoding adenylate cyclase 3 in children with severe obesity from consanguineous Pakistani families, as well as compound heterozygous mutations in a severely obese child of European-American descent. These findings highlight ADCY3 as an important mediator of energy homeostasis and an attractive pharmacological target in the treatment of obesity.
Huisman SA, Oklejewicz M, Ahmadi AR, et al., 2015, Colorectal liver metastases with a disrupted circadian rhythm phase shift the peripheral clock in liver and kidney, INTERNATIONAL JOURNAL OF CANCER, Vol: 136, Pages: 1024-1032, ISSN: 0020-7136
Feillet C, Krusche P, Tamanini F, et al., 2014, Phase locking and multiple oscillating attractors for the coupled mammalian clock and cell cycle, PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, Vol: 111, Pages: 9828-9833, ISSN: 0027-8424
Destici E, Jacobs EH, Tamanini F, et al., 2013, Altered Phase-Relationship between Peripheral Oscillators and Environmental Time in Cry1 or Cry2 Deficient Mouse Models for Early and Late Chronotypes, PLOS ONE, Vol: 8, ISSN: 1932-6203
Engelen E, Janssens RC, Yagita K, et al., 2013, Mammalian TIMELESS Is Involved in Period Determination and DNA Damage-Dependent Phase Advancing of the Circadian Clock, PLOS ONE, Vol: 8, ISSN: 1932-6203
Valekunja UK, Edgar RS, Oklejewicz M, et al., 2013, Histone methyltransferase MLL3 contributes to genome-scale circadian transcription, PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, Vol: 110, Pages: 1554-1559, ISSN: 0027-8424
Stratmann M, Stadler F, Tamanini F, et al., 2010, Flexible phase adjustment of circadian albumin D site-binding protein (Dbp) gene expression by CRYPTOCHROME1, GENES & DEVELOPMENT, Vol: 24, Pages: 1317-1328, ISSN: 0890-9369
Destici E, Oklejewicz M, Nijman R, et al., 2009, Impact of the circadian clock on in vitro genotoxic risk assessment assays, MUTATION RESEARCH-GENETIC TOXICOLOGY AND ENVIRONMENTAL MUTAGENESIS, Vol: 680, Pages: 87-94, ISSN: 1383-5718
Zhang J, Fang Z, Jud C, et al., 2008, Fragile X-related proteins regulate mammalian circadian behavioral rhythms, AMERICAN JOURNAL OF HUMAN GENETICS, Vol: 83, Pages: 43-52, ISSN: 0002-9297
Oklejewicz M, Destici E, Tamanini F, et al., 2008, Phase resetting of the mammalian circadian clock by DNA damage, CURRENT BIOLOGY, Vol: 18, Pages: 286-291, ISSN: 0960-9822
Jakubcakova V, Oster H, Tamanini F, et al., 2007, Light entrainment of the mammalian circadian clock by a PRKCA-dependent posttranslational mechanism, NEURON, Vol: 54, Pages: 831-843, ISSN: 0896-6273
Tamanini F, Chaves I, Bajek MI, et al., 2007, Structure function analysis of mammalian cryptochromes, COLD SPRING HARBOR SYMPOSIA ON QUANTITATIVE BIOLOGY, Vol: 72, Pages: 133-139, ISSN: 0091-7451
Tamanini F, 2007, Immunofluorescence analysis of circadian protein dynamics in cultured mammalian cells., Methods Mol Biol, Vol: 362, Pages: 561-568, ISSN: 1064-3745
The timing of both entry and permanence of core-clock proteins in the nucleus is critical to maintain the correct pace of the clock mechanism. Several such proteins, namely CRYPTOCHROMEs (CRY), PERIODs (PER), and BMAL1, were recently shown to contain nuclear transport signals that facilitate their "shuttling" between the nucleus and the cytoplasm. This type of dynamic intracellular movement not only regulates protein localization, but also often affects functions by determining interactive partners and protein turnover. Because most clock genes have been identified by genetic screening in Drosophila and by gene knockdown in mammals, it is important to develop cellular techniques to study the structure-function and regulation of the corresponding proteins. Here we present working protocols for immunofluorescence studies of clock proteins in mammalian cultured cells. This technique allows the visualization in the cell of one or multiple proteins at the same time.
Tamanini F, 2007, Manipulation of mammalian cell lines for circadian studies., Methods Mol Biol, Vol: 362, Pages: 443-453, ISSN: 1064-3745
In mammals, the central circadian pacemaker resides in the hypothalamic suprachiasmatic nucleus (SCN), but circadian oscillators also exist in peripheral tissues. We have used wild-type and cryptochrome (mCry)-deficient mouse embryonic fibroblasts (MEFs) to demonstrate that the peripheral oscillator is mechanistically very similar to the oscillator in the SCN. Following serum shock activation, fibroblasts are able to sustain an SCN-like temporal expression profile of all known genes (i.e., antiphase oscillation of Bmal1 and Dbp genes), but are not able to produce oscillations in the absence of functional mCry genes. Remarkably, the analysis of mCry1-/- and mCry2-/- MEFs revealed the capacity to control period length in immortalized cell lines. Thus, the use of mammalian cells has become one of the most convenient methods for monitoring the molecular clock machinery and analyzing clock proteins at the functional/structural level. Here, we present the necessary protocols to (1) derive and culture a fibroblast cell line from wild-type and knockout mouse skin and (2) transfect cells at high efficiency to use in functional clock-protein studies.
Kiyohara YB, Tagao S, Tamanini F, et al., 2006, The BMAL1 C terminus regulates the circadian transcription feedback loop, PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, Vol: 103, Pages: 10074-10079, ISSN: 0027-8424
Chaves I, Yagita K, Barnhoorn S, et al., 2006, Functional evolution of the photolyase/cryptochrome protein family: Importance of the C terminus of mammalian CRY1 for circadian core oscillator performance, MOLECULAR AND CELLULAR BIOLOGY, Vol: 26, Pages: 1743-1753, ISSN: 0270-7306
Yagita K, Tamanini F, Yasuda M, et al., 2002, Nucleocytoplasmic shuttling and mCRY-dependent inhibition of ubiquitylation of the mPER2 clock protein, EMBO JOURNAL, Vol: 21, Pages: 1301-1314, ISSN: 0261-4189
Yagita K, Tamanini F, van der Horst GTJ, et al., 2001, Molecular mechanisms of the biological clock in cultured fibroblasts, SCIENCE, Vol: 292, Pages: 278-281, ISSN: 0036-8075
Tamanini F, Kirkpatrick LL, Schonkeren J, et al., 2000, The fragile X-related proteins FXR1P and FXR2P contain a functional nucleolar-targeting signal equivalent to the HIV-1 regulatory proteins, HUMAN MOLECULAR GENETICS, Vol: 9, Pages: 1487-1493, ISSN: 0964-6906
Yagita K, Yamaguchi S, Tamanini F, et al., 2000, Dimerization and nuclear entry of mPER proteins in mammalian cells, GENES & DEVELOPMENT, Vol: 14, Pages: 1353-1363, ISSN: 0890-9369
Tamanini F, van Unen L, Bakker C, et al., 1999, Oligomerization properties of fragile-X mental-retardation protein (FMRP) and the fragile-X-related proteins FXR1P and FXR2P, BIOCHEMICAL JOURNAL, Vol: 343, Pages: 517-523, ISSN: 0264-6021
Tamanini F, Bontekoe C, Bakker CE, et al., 1999, Different targets for the fragile X-related proteins revealed by their distinct nuclear localizations, HUMAN MOLECULAR GENETICS, Vol: 8, Pages: 863-869, ISSN: 0964-6906
D'Adamo P, Menegon A, Lo Nigro C, et al., 1998, Mutations in GDI1 are responsible for X-linked non-specific mental retardation, NATURE GENETICS, Vol: 19, Pages: 134-139, ISSN: 1061-4036
Sacchi N, Tamanini F, Willemsen R, et al., 1998, Subcellular localization of the oncoprotein MTG8 (CDR/ETO) in neural cells, ONCOGENE, Vol: 16, Pages: 2609-2615, ISSN: 0950-9232
Tamanini F, Willemsen R, vanUnen L, et al., 1997, Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis, HUMAN MOLECULAR GENETICS, Vol: 6, Pages: 1315-1322, ISSN: 0964-6906
Willemsen R, Bontekoe C, Tamanini F, et al., 1996, Association of FMRP with ribosomal precursor particles in the nucleolus, BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, Vol: 225, Pages: 27-33, ISSN: 0006-291X
Maestrini E, Tamagnone L, Longati P, et al., 1996, A family of transmembrane proteins with homology to the MET-hepatocyte growth factor receptor, PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, Vol: 93, Pages: 674-678, ISSN: 0027-8424
RIVELLA S, TAMANINI F, BIONE S, et al., 1995, A COMPARATIVE TRANSCRIPTIONAL MAP OF A REGION OF 250 KB ON THE HUMAN AND MOUSE X-CHROMOSOME BETWEEN THE G6PD AND THE FLN1 GENES, GENOMICS, Vol: 28, Pages: 377-382, ISSN: 0888-7543
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