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1-9 of 9
Keywords: genetic disease
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Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2024) 52 (5): 2059–2075.
Published: 24 October 2024
... and the Biochemical Society under a transformative agreement with JISC. cancer epigenetics genetic disease methylation In mammals, DNA methylation predominantly occurs on the cytosines of CpG dinucleotides [ 1 ] and is thought to facilitate the repression of some gene promoters and retrotransposons...
Articles
RecQ and Fe–S helicases have unique roles in DNA metabolism dictated by their unwinding directionality, substrate specificity, and protein interactions
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Journal:
Biochemical Society Transactions
Biochem Soc Trans (2018) 46 (1): 77–95.
Published: 22 December 2017
... on behalf of the Biochemical Society 2018 cancer DNA replication and recombination DNA synthesis and repair genetic disease genome integrity helicase Although RECQL4 lacks a WH domain, the C-terminal region of the protein is critical for helicase activity [ 2 ]. Nonetheless, the apparent...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2017) 45 (2): 303–311.
Published: 13 April 2017
..., both computationally and experimentally. Structure can also inform our understanding of impacts of mutations in human genetic diseases and drug resistance in cancers and infectious diseases. We discuss the ways that structural insights might be useful in both repurposing off-licence drugs and guide...
Articles
Evolution of spectrin function in cytoskeletal and membrane networks
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Journal:
Biochemical Society Transactions
Biochem Soc Trans (2009) 37 (4): 796–803.
Published: 22 July 2009
... The Authors Journal compilation © 2009 Biochemical Society 2009 anaemia ankyrin evolution genetic disease protein 4.1 spectrin Animal cells face demands that are different from (or at least additional to) those faced by simpler unicellular eukaryotes. For example, the forces engendered...
Articles
Biological functions of TRPs unravelled by spontaneous mutations and transgenic animals
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Journal:
Biochemical Society Transactions
Biochem Soc Trans (2007) 35 (1): 120–123.
Published: 22 January 2007
...-saarland.de ). 21 8 2006 © 2007 The Biochemical Society 2007 genetic disease knockout animal spontaneous mutation transgenic animal transient receptor potential gene (TRP gene) transient receptor potential melastatin 8 (TRPM8) The identification of the biological functions...
Articles
Molecules of the mind: integrating synaptic biochemistry to understand brain function
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Journal:
Biochemical Society Transactions
Biochem Soc Trans (2006) 34 (1): 43–44.
Published: 20 January 2006
... The Biochemical Society 2006 1 To whom correspondence should be addressed (email V.M.O'[email protected] ). genetic disease model organism molecular determinant protein misfolding synapse synaptic function The Biochemical Society focused meeting ‘Molecular Determinants of Synaptic...
Articles
Intracellular ribozyme applications
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Journal:
Biochemical Society Transactions
Biochem Soc Trans (2002) 30 (6): 1140–1145.
Published: 01 November 2002
... genetic disease HIV nucleolus DMPK, dystrophica myotonica-protein kinase MDM2, murine double minute 2 Ribozymes and RNA Catalysis: Focused Meeting Organized by D. M. J. Lilley (Department of Biochemistry, University of Dundee) and F. Eckstein (Max-Planck Institute for Experimental...
Articles
Regulation of de novo sphingolipid biosynthesis and the toxic consequences of its disruption
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Journal:
Biochemical Society Transactions
Biochem Soc Trans (2001) 29 (6): 831–835.
Published: 01 November 2001
... 2001 © 2001 Biochemical Society 2001 apoptosis toxicity xenobiotic genetic disease signal transduction SPT, serine palmitoyltransferase Enzymes that Regulate Lipid Metabolism in Cell Signalling Regulation of de novo sphingolipid biosynthesis and the toxic consequences of its...
Articles
Lipid metabolism in peroxisomes: enzymology, functions and dysfunctions of the fatty acid α- and β-oxidation systems in humans
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Journal:
Biochemical Society Transactions
Biochem Soc Trans (2000) 28 (2): 141–149.
Published: 01 February 2000
... of genetic diseases in which there is an impairment in one or more peroxisomal functions. One of the major functions of peroxisomes concerns their role in lipid metabolism, which includes: (i) fatty acid β-oxidation; (ii) ether phospholipid synthesis; (iii) fatty acid α-oxidation; and (iv) isoprenoid...