Abstract:
:Mutations in the LMNA gene, encoding the nuclear intermediate filaments the A-type lamins, result in a wide variety of diseases known as laminopathies. Some of them, such as familial partial lipodystrophy of Dunnigan and metabolic laminopathies, are characterized by lipodystrophic syndromes with altered fat distribution and severe metabolic alterations with insulin resistance and dyslipidaemia. Metabolic disturbances could be due either to the inability of adipose tissue to adequately store triacylglycerols or to other cellular alterations linked to A-type lamin mutations. Indeed, abnormal prelamin A accumulation and farnesylation, which are clearly involved in laminopathic premature aging syndromes, could play important roles in lipodystrophies. In addition, gene expression alterations, and signalling abnormalities affecting SREBP1 (sterol-regulatory-element-binding protein 1) and MAPK (mitogen-activated protein kinase) pathways, could participate in the pathophysiological mechanisms leading to LMNA (lamin A/C)-linked metabolic alterations and lipodystrophies. In the present review, we describe the clinical phenotype of LMNA-linked lipodystrophies and discuss the current physiological and biochemical hypotheses regarding the pathophysiology of these diseases.
journal_name
Biochem Soc Transjournal_title
Biochemical Society transactionsauthors
Bidault G,Vatier C,Capeau J,Vigouroux C,Béréziat Vdoi
10.1042/BST20110675subject
Has Abstractpub_date
2011-12-01 00:00:00pages
1752-7issue
6eissn
0300-5127issn
1470-8752pii
BST20110675journal_volume
39pub_type
杂志文章,评审abstract::LRRK2 (leucine-rich repeat kinase 2) is an enzyme implicated in human disease, containing kinase and GTPase functions within the same multidomain open reading frame. Dominant mutations in the LRRK2 gene are the most common cause of familial PD (Parkinson's disease). Additionally, in genome-wide association studies, th...
journal_title:Biochemical Society transactions
pub_type: 杂志文章,评审
doi:10.1042/BST20120126
更新日期:2012-10-01 00:00:00
abstract::DNA methylation at the fifth position of cytosine is a major epigenetic mark conserved in plants and mammals. Genome-wide DNA methylation patterns are dynamically controlled by integrated activities of establishment, maintenance, and removal. In both plants and mammals, a pattern of global DNA hypomethylation coupled ...
journal_title:Biochemical Society transactions
pub_type: 杂志文章,评审
doi:10.1042/BST20180218
更新日期:2019-08-30 00:00:00
abstract::A limited number of bacteria, yeast and fungi can convert hemicellulose or its monomers (xylose, arabinose, mannose and galactose) into ethanol with a satisfactory yield and productivity. In the present study we tested a number of thermophilic enrichment cultures, and new isolates of thermophilic anaerobic bacterial s...
journal_title:Biochemical Society transactions
pub_type: 杂志文章
doi:10.1042/bst0320283
更新日期:2004-04-01 00:00:00
abstract::We have identified three groups of growth-constraint genes using mosaic genetic screens in Drosophila melanogaster, including PTEN (phosphatase and tensin homologue deleted on chromosome 10), and the tuberous sclerosis complex (TSC) genes, Tsc1 and Tsc2. Our studies show that all three groups of genes participate in m...
journal_title:Biochemical Society transactions
pub_type: 杂志文章,评审
doi:10.1042/bst0310584
更新日期:2003-06-01 00:00:00
abstract::The ability to permit gene expression is managed by a set of relatively well known regulatory mechanisms. Nonetheless, this property can also be acquired during a life span as a consequence of environmental stimuli. Interestingly, some acquired information can be passed to the next generation of individuals without mo...
journal_title:Biochemical Society transactions
pub_type: 杂志文章,评审
doi:10.1042/BST20170335
更新日期:2018-02-19 00:00:00
abstract::Congenital malformations are major causes of disease and death during the first years of life and, most of the time, functional replacement of the missing or damaged organs remains an unmet clinical need. Particularly relevant for the treatment of congenital malformation would be to collect the stem cells at diagnosis...
journal_title:Biochemical Society transactions
pub_type: 杂志文章
doi:10.1042/BST20140069
更新日期:2014-06-01 00:00:00
abstract::Two decades ago, patients lacking circulating serum ceruloplasmin (Cp) presented with neurodegeneration associated with brain iron accumulation. These patients, with mutations in the MCO (multi-copper oxidase), Cp, revealed an essential role for Cp in iron homoeostasis. The patients were diagnosed in adulthood with CN...
journal_title:Biochemical Society transactions
pub_type: 杂志文章,评审
doi:10.1042/BST0361277
更新日期:2008-12-01 00:00:00
abstract::Recent findings that some 24 inherited diseases and anomalies are caused by defects in proteins of the NE (nuclear envelope) and lamina have resulted in a fundamental reassessment of the functions of the NE and underlying lamina. Instead of just regarding the NE and lamina as a molecular filtering device, regulating t...
journal_title:Biochemical Society transactions
pub_type: 杂志文章,评审
doi:10.1042/BST0361329
更新日期:2008-12-01 00:00:00
abstract::Loss of barrier function in the vasculature promotes inflammatory signalling which in turn contributes to the progression of cardiovascular disease. cAMP can protect against endothelial dysfunction through the effectors PKA (protein kinase A) and Epac (exchange protein directly activated by cAMP). The present review o...
journal_title:Biochemical Society transactions
pub_type: 杂志文章,评审
doi:10.1042/BST20130271
更新日期:2014-04-01 00:00:00
abstract::Bacterial hydrogenases have been harnessed to the removal of heavy metals from solution by reduction to less soluble metal species. For Pd(II), its bioreduction results in the deposition of cell-bound Pd(0)-nanoparticles that are ferromagnetic and have a high catalytic activity. Hydrogenases can also be used synthetic...
journal_title:Biochemical Society transactions
pub_type: 杂志文章
doi:10.1042/BST0330076
更新日期:2005-02-01 00:00:00
abstract::Cytochrome P450 (CYP) enzymes represent a large superfamily that displays extraordinarily diverse substrate specificities. After a concise review about CYPs of the CYP1A subfamily, which plays a crucial role in procarcinogen activation, this paper presents segment-directed mutagenesis. This approach generates a librar...
journal_title:Biochemical Society transactions
pub_type: 杂志文章
doi:10.1042/0300-5127:0290128
更新日期:2001-05-01 00:00:00
abstract::As intracellular pathogens, enveloped viruses must usurp the host cell machinery for many stages of the viral life cycle in order to produce a new generation of infectious virions. In one of the less understood steps of viral assembly, viral components including the transmembrane glycoproteins, structural proteins and...
journal_title:Biochemical Society transactions
pub_type: 杂志文章,评审
doi:10.1042/BST20120166
更新日期:2012-12-01 00:00:00
abstract::Based on recent theoretical results on optimal flux distributions in kinetic metabolic networks, we explore the congruences and differences between solutions of kinetic optimization problems and results obtained by constraint-based methods. We demonstrate that, for a certain resource allocation problem, kinetic optimi...
journal_title:Biochemical Society transactions
pub_type: 杂志文章,评审
doi:10.1042/BST20150156
更新日期:2015-12-01 00:00:00
abstract::Studies of the DNA-replication machinery of Archaea have revealed striking similarities to that of eukaryotes. Indeed, it appears that in most cases Archaea possess a simplified version of the eukaryotic replication apparatus. Studies of Archaea are therefore shedding light on the fundamental processes of DNA replicat...
journal_title:Biochemical Society transactions
pub_type: 杂志文章,评审
doi:10.1042/bst0310674
更新日期:2003-06-01 00:00:00
abstract::Tribbles (TRIB) proteins are pseudokinase mediators of eukaryotic signalling that have evolved important roles in lipoprotein metabolism, immune function and cellular differentiation and proliferation. In addition, an evolutionary-conserved modulation of PI3K/AKT signalling pathways highlights them as novel and rather...
journal_title:Biochemical Society transactions
pub_type: 杂志文章,评审
doi:10.1042/BST20150109
更新日期:2015-10-01 00:00:00
abstract::Synthetic gene circuits allow us to govern cell behavior in a programmable manner, which is central to almost any application aiming to harness engineered living cells for user-defined tasks. Transcription factors (TFs) constitute the 'classic' tool for synthetic circuit construction but some of their inherent constra...
journal_title:Biochemical Society transactions
pub_type: 杂志文章
doi:10.1042/BST20200020
更新日期:2020-10-30 00:00:00
abstract::As an ion channel, the cystic fibrosis transmembrane conductance regulator (CFTR) protein occupies a unique niche within the ABC family. Orthologues of CFTR are extant throughout the animal kingdom from sharks to platypods to sheep, where the osmoregulatory function of the protein has been applied to differing lifesty...
journal_title:Biochemical Society transactions
pub_type: 杂志文章,评审
doi:10.1042/BST20150081
更新日期:2015-10-01 00:00:00
abstract::As beta-secretase, memapsin 2 cleaves amyloid-beta precursor protein, which leads ultimately to the onset of Alzheimer's disease. As such, memapsin 2 is an excellent target of inhibitor drugs for the treatment of this disease. Here we describe the tools for memapsin 2 inhibitor design that have been developed and resu...
journal_title:Biochemical Society transactions
pub_type: 杂志文章,评审
doi:10.1042/bst0300530
更新日期:2002-08-01 00:00:00
abstract::Co-ordinated myocyte handling of calcium is essential for efficient excitation-contraction coupling in the heart. The calcium cycling activity can be modulated by adrenergic stimulation and subsequent phosphorylation. Important functional consequences of phosphorylation include a greater influx of calcium through the ...
journal_title:Biochemical Society transactions
pub_type: 杂志文章,评审
doi:10.1042/BST0340489
更新日期:2006-08-01 00:00:00
abstract::The GABAR [GABA(A) (gamma-aminobutyric acid type A) receptor], which mediates most inhibition in the brain, is regulated homoeostatically to maintain an optimal level of neuronal excitability. In particular, the alpha(4)betadelta subtype of the GABAR plays a pivotal role in this regulation. This receptor, which is exp...
journal_title:Biochemical Society transactions
pub_type: 杂志文章
doi:10.1042/BST0371378
更新日期:2009-12-01 00:00:00
abstract::Inflammation or inflammatory cytokines and oxidative stress have often been associated, and thiol antioxidants, particularly glutathione, have often been seen as possible anti-inflammatory mediators. However, whereas several cytokine inhibitors have been approved for drug use in chronic inflammatory diseases, this has...
journal_title:Biochemical Society transactions
pub_type: 杂志文章,评审
doi:10.1042/BST0391268
更新日期:2011-10-01 00:00:00
abstract::Activated tyrosine kinase receptors acquire ubiquitin tags. Ubiquitination governs receptor down-regulation through interaction with components of the endosomal ESCRT (endosomal sorting complexes required for transport) machinery that shepherds receptors into luminal vesicles of multivesicular bodies en route to the l...
journal_title:Biochemical Society transactions
pub_type: 杂志文章
doi:10.1042/BST0340754
更新日期:2006-11-01 00:00:00
abstract::Aberrant activation of the PI3K pathway is one of the commonest oncogenic events in human cancer. AKT is a key mediator of PI3K oncogenic function, and thus has been intensely pursued as a therapeutic target. Multiple AKT inhibitors, broadly classified as either ATP-competitive or allosteric, are currently in various ...
journal_title:Biochemical Society transactions
pub_type: 杂志文章
doi:10.1042/BST20190777
更新日期:2020-06-30 00:00:00
abstract::LRRK2 mutation is the most common inherited, autosomal dominant cause of Parkinson's disease (PD) and has also been observed in sporadic cases. Most mutations result in increased LRRK2 kinase activity. LRRK2 is highly expressed in brain regions that receive dense, convergent innervation by dopaminergic and glutamaterg...
journal_title:Biochemical Society transactions
pub_type: 杂志文章,评审
doi:10.1042/BST20180468
更新日期:2018-12-17 00:00:00
abstract::The study of regulated exocytosis uniquely allows the direct measurement of intracellular membrane fusion events in real time. We have exploited this to examine factors that regulate not only the extent but also the dynamics of single fusion/release events. The general strategy used has been to assess exocytosis in tr...
journal_title:Biochemical Society transactions
pub_type: 杂志文章,评审
doi:10.1042/bst0290467
更新日期:2001-08-01 00:00:00
abstract::Rapid interphase chromosome territory repositioning appears to function through the action of nuclear myosin and actin, in a nuclear motor complex. We have found that chromosome repositioning when cells leave the cell cycle is not apparent in cells that have mutant lamin A or that are lacking emerin. We discuss the po...
journal_title:Biochemical Society transactions
pub_type: 杂志文章,评审
doi:10.1042/BST0361384
更新日期:2008-12-01 00:00:00
abstract::We have shown that yeast mutants with defects in the Ada adaptor proteins are defective in hormone-dependent gene activation by ectopically expressed human glucocorticoid receptor (GR). Others have shown that the Ada2 protein is required for physical interactions between some activation domains and TBP (TATA-binding p...
journal_title:Biochemical Society transactions
pub_type: 杂志文章,评审
doi:
更新日期:2000-01-01 00:00:00
abstract::NO (nitric oxide) is a signal molecule involved in diverse physiological processes in cells which can become very toxic under certain conditions determined by its rate of production and diffusion. Several studies have clearly shown the production of NO in early stages of rhizobia-legume symbiosis and in mature nodules...
journal_title:Biochemical Society transactions
pub_type: 杂志文章,评审
doi:10.1042/BST0390184
更新日期:2011-01-01 00:00:00
abstract::Resistance-exercise training results in a progressive increase in muscle mass and force production. Following an acute bout of resistance exercise, the rate of protein synthesis increases proportionally with the increase in protein degradation, correlating at 3 h in the starved state. Amino acids taken immediately bef...
journal_title:Biochemical Society transactions
pub_type: 杂志文章,评审
doi:10.1042/BST0351314
更新日期:2007-11-01 00:00:00
abstract::The respiratory complex I (electrogenic NADH:quinone oxidoreductase) has been considered to act exclusively as a H+ pump. This was questioned when the search for the NADH-driven respiratory Na+ pump in Klebsiella pneumoniae initiated by Peter Dimroth led to the discovery of a Na+-translocating complex in this enteroba...
journal_title:Biochemical Society transactions
pub_type: 杂志文章,评审
doi:10.1042/BST20130024
更新日期:2013-10-01 00:00:00