Abstract：
:Degenerated motor neurons in the spinal cord are the pathological hallmark of spinal muscular atrophy (SMA). SMA is caused by mutations in the ubiquitously expressed survival motor neuron 1 (SMN1) gene, which lead to reduced levels of functional SMN protein. Many different functions have been assigned to SMN, including assembly of ribonucleoproteins (RNPs), splicing, transcription and axonal mRNA transport. Recently, tissue from SMA patients and animal models has been used to determine which function of SMN is affected in SMA patients. A surprising picture has emerged: the impaired assembly of RNP subunits of the spliceosome seems to be responsible for SMA pathogenesis. Here, we present a model of how this defect might cause motor-neuron degeneration and consider potential therapies.
journal_name
Trends Mol Medjournal_title
Trends in molecular medicineauthors
Eggert C,Chari A,Laggerbauer B,Fischer Udoi
10.1016/j.molmed.2006.01.005keywords:
subject
Has Abstractpub_date
2006-03-01 00:00:00pages
113-21issue
3eissn
1471-4914issn
1471-499Xpii
S1471-4914(06)00023-2journal_volume
12pub_type
杂志文章abstract：:Transcription factor nuclear factor-kappaB (NF-kappaB) and its target genes are involved in the pathogenesis of atherosclerosis, in addition to many other diseases. Monocyte recruitment into subendothelial space is primarily mediated by NF-kappaB-dependent gene expression, and this event is a crucial milestone, becaus...
journal_title：Trends in molecular medicine
pub_type： 杂志文章,评审
doi：10.1016/j.molmed.2003.10.007
更新日期：2003-12-01 00:00:00
abstract：:Transport into the endoplasmic reticulum (ER) is the crucial step in the biosynthesis of most secretory proteins and many membrane proteins. The products of the SIL1, SEC62 and SEC63 genes act in concert with the SEC61 complex and the molecular chaperones BiP and GRP170 to transport proteins into the ER. Interestingly...
journal_title：Trends in molecular medicine
pub_type： 杂志文章
doi：10.1016/j.molmed.2006.10.004
更新日期：2006-12-01 00:00:00
abstract：:Despite advances in treatment for glioblastoma multiforme (GBM), patient prognosis remains poor. Although there is growing evidence that molecular targeting could translate into better survival for GBM, current clinical data show limited impact on survival. Recent progress in GBM genomics implicate several activated p...
journal_title：Trends in molecular medicine
pub_type： 临床试验,杂志文章,评审
doi：10.1016/j.molmed.2011.01.011
更新日期：2011-06-01 00:00:00
abstract：:Pyocyanin (PCN) is a blue redox-active secondary metabolite that is produced by Pseudomonas aeruginosa. PCN is readily recovered in large quantities in sputum from patients with cystic fibrosis who are infected by P. aeruginosa. Despite in vitro studies demonstrating that PCN interferes with multiple cellular function...
journal_title：Trends in molecular medicine
pub_type： 杂志文章,评审
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abstract：:What biological factors account for resilience to pain or to behavioral stress? Here, we discuss examples of cellular and molecular mechanisms within disparate parts of the nervous system as contributors to such resilience. In some especially well-studied humans, it is possible to identify particular neuronal cell typ...
journal_title：Trends in molecular medicine
pub_type： 杂志文章,评审
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更新日期：2020-10-01 00:00:00
abstract：:Therapy for hepatitis C virus (HCV) infection is on the cusp of a new era. Until now, standard-of-care therapy has involved interferon (IFN) and ribavirin. With the first successful Phase III trials of specific targeted antiviral therapy for HCV (STAT-C) compounds, as well as three trials in progress giving the first ...
journal_title：Trends in molecular medicine
pub_type： 杂志文章,评审
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更新日期：2011-01-01 00:00:00
abstract：:While the hippocampus has long been recognized as a brain structure specialized in mapping 'space' in rodents, human studies and now recent data from rodents have shown that its function extends well beyond spatial coding. Recently, an overlooked area of the hippocampus, CA2, has emerged as a critical region for socia...
journal_title：Trends in molecular medicine
pub_type： 杂志文章,评审
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更新日期：2016-08-01 00:00:00
abstract：:Hundreds of millions of people worldwide are affected by bone-related diseases, such as osteoporosis and rheumatoid arthritis. Understanding the molecular mechanisms of bone metabolism is crucial for developing novel drugs for treating such diseases. In particular, genetic experiments showing that the receptor activat...
journal_title：Trends in molecular medicine
pub_type： 杂志文章,评审
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abstract：:Sex differences have been clinically documented in numerous neurodegenerative diseases and yet the reasons for these differences are not well understood. Recent studies have found that microglia, the innate immune cells of the central nervous system, are a key cell type involved in neurodegenerative diseases. This cel...
journal_title：Trends in molecular medicine
pub_type： 杂志文章,评审
doi：10.1016/j.molmed.2019.05.001
更新日期：2019-09-01 00:00:00
abstract：:Accumulating evidence supports the important role for epigenetic changes in modulating clinical parameters of complex disorders, including neurodegenerative disease. Several conditions, including fragile X syndrome and Huntington's disease are caused by trinucleotide repeat (TNR) expansions in or near specific genes. ...
journal_title：Trends in molecular medicine
pub_type： 杂志文章,评审
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更新日期：2013-11-01 00:00:00
abstract：:As gene therapy begins to produce its first clinical successes, interest in ocular gene transfer has grown owing to the favorable safety and efficacy characteristics of the eye as a target organ for drug delivery. Important advances also include the availability of viral and non-viral vectors that are able to efficien...
journal_title：Trends in molecular medicine
pub_type： 杂志文章,评审
doi：10.1016/j.molmed.2008.11.003
更新日期：2009-01-01 00:00:00
abstract：:Mesenchymal stem cells (MSCs) are currently being tested in clinical trials for the treatment of various diseases owing to the ease of generating and expanding these cells, the ability to differentiate them into various specialized mesenchymal tissue types and their immunosuppressive properties. However, their immunom...
journal_title：Trends in molecular medicine
pub_type： 杂志文章,评审
doi：10.1016/j.molmed.2011.10.004
更新日期：2012-02-01 00:00:00
abstract：:Near-infrared fluorescence (NIRF) imaging promises to improve cancer imaging and management; advances in nanomaterials allow scientists to combine new nanoparticles with NIRF imaging techniques, thereby fulfilling this promise. Here, we present a synopsis of current developments in NIRF nanoprobes, their use in imagin...
journal_title：Trends in molecular medicine
pub_type： 杂志文章,评审
doi：10.1016/j.molmed.2010.08.006
更新日期：2010-12-01 00:00:00
abstract：:Non-viral DNA vectors have several advantages over viral vectors. For example, virus production is expensive and there are safety concerns regarding viral manipulations. In addition, the size of the delivered plasmid is limited by the size of the viral capsid, whereas this is not a problem with non-viral vectors. The ...
journal_title：Trends in molecular medicine
pub_type： 杂志文章,评审
doi：10.1016/s1471-4914(03)00005-4
更新日期：2003-02-01 00:00:00
abstract：:Multiple Sclerosis (MS) is a chronic inflammatory disease of the central nervous system. The inflammatory and neurodegenerative pathways driving MS are modulated by DNA, lysine, and arginine methylation, as evidenced by studies made possible by novel tools for methylation detection or loss of function. We present evid...
journal_title：Trends in molecular medicine
pub_type： 杂志文章,评审
doi：10.1016/j.molmed.2017.04.004
更新日期：2017-06-01 00:00:00
abstract：:There is much evidence suggesting that there is a strong relationship between the deterioration of brain lipid homeostasis, vascular changes and the pathogenesis of Alzheimer's disease (AD). These associations include: (1). recognition that a key cholesterol transporter, apolipoprotein E type 4, acts a major genetic r...
journal_title：Trends in molecular medicine
pub_type： 杂志文章,评审
doi：10.1016/s1471-4914(03)00007-8
更新日期：2003-03-01 00:00:00
abstract：:T cells expressing chimeric antigen receptors (CARs) are a formidable platform for the study and application of synthetic biology approaches to study customized and flexible control of cellular functions. Recent reports in the journal Cell provide a new twist on combinatorial antigen targeting, profiting from the sing...
journal_title：Trends in molecular medicine
pub_type： 评论,杂志文章
doi：10.1016/j.molmed.2016.02.009
更新日期：2016-04-01 00:00:00
abstract：:To prevent duplication or loss of genomic regions during DNA replication, it is essential that the entire genome is copied precisely once every S phase. Cells achieve this by mutually exclusive regulation of origin firing and licensing. A crucial protein that is involved in origin licensing is chromatin licensing and ...
journal_title：Trends in molecular medicine
pub_type： 杂志文章
doi：10.1016/j.molmed.2006.08.004
更新日期：2006-10-01 00:00:00
abstract：:Epigenome-wide association studies (EWASs) provide a systematic approach to uncovering epigenetic variants underlying common diseases. Discoveries have shed light on novel molecular mechanisms of disease and enabled the application of epigenetic variants as biomarkers. Here, we highlight the recent advances in this em...
journal_title：Trends in molecular medicine
pub_type： 杂志文章
doi：10.1016/j.molmed.2014.07.002
更新日期：2014-10-01 00:00:00
abstract：:The transcription factor SOX9 is crucial for multiple aspects of development. Mutations in SOX9 cause campomelic dysplasia, a haploinsufficiency disorder concordant with the expression profile of SOX9 during embryogenesis. The mechanistic understanding of development has revealed roles for SOX9 in regulating cartilage...
journal_title：Trends in molecular medicine
pub_type： 杂志文章,评审
doi：10.1016/j.molmed.2010.12.001
更新日期：2011-03-01 00:00:00
abstract：:Serotonin is an important neurohormonal factor that has been implicated in cardiovascular function. It can regulate vascular tone, act directly on cardiomyocytes and stimulate chemosensitive nerves in the heart. Cardiovascular dysfunction is observed when serotonin signaling is altered or when variation in serotonin c...
journal_title：Trends in molecular medicine
pub_type： 杂志文章,评审
doi：10.1016/j.molmed.2004.03.007
更新日期：2004-05-01 00:00:00
abstract：:Human skin responds to numerous neurohormones, neuropeptides, and neurotransmitters that reach it via the vasculature or skin nerves, and/or are generated intracutaneously, thus acting in a para- and autocrine manner. This review focuses on how neurohormones impact on human skin physiology and pathology. We highlight ...
journal_title：Trends in molecular medicine
pub_type： 杂志文章,评审
doi：10.1016/j.molmed.2020.09.002
更新日期：2021-01-01 00:00:00
abstract：:Induction of pathogen-specific binding antibodies has long been considered a signature of protective immunity following vaccination and infection. The humoral immune response is a complex network of antibodies that target different specificities and drive different functions, collectively acting to limit and clear inf...
journal_title：Trends in molecular medicine
pub_type： 杂志文章,评审
doi：10.1016/j.molmed.2016.09.002
更新日期：2016-11-01 00:00:00
abstract：:Ten percent of inherited diseases are caused by premature termination codon (PTC) mutations that lead to degradation of the mRNA template and to the production of a non-functional, truncated polypeptide. In addition, many acquired mutations in cancer introduce similar PTCs. In 1999, proof-of-concept for treating these...
journal_title：Trends in molecular medicine
pub_type： 杂志文章,评审
doi：10.1016/j.molmed.2012.09.008
更新日期：2012-11-01 00:00:00
abstract：:miRNAs are small noncoding RNAs known to post-transcriptionally regulate gene expression. miRNAs are expressed in the heart where they regulate multiple pathophysiological processes. The discovery of stable cardiac miRNAs in the bloodstream has also motivated the investigation of their potential as biomarkers. This re...
journal_title：Trends in molecular medicine
pub_type： 杂志文章,评审
doi：10.1016/j.molmed.2014.10.006
更新日期：2014-12-01 00:00:00
abstract：:The mTOR signaling network functions as a pivotal regulatory cascade during the development of the cerebral cortex. Aberrant hyperactivation of mTOR as a consequence of loss-of-function gene mutations encoding mTOR inhibitor proteins such as TSC1, TSC2, PTEN and STRADα has been recently linked to developmental cortica...
journal_title：Trends in molecular medicine
pub_type： 杂志文章,评审
doi：10.1016/j.molmed.2011.07.008
更新日期：2011-12-01 00:00:00
abstract：:Cardiovascular diseases predominantly result from atherosclerosis, a natural biological phenomenon reflecting food intake and energy production in humans. Lipolysis of plasma triglyceride-rich lipoproteins (TGRLs) by lipoprotein lipase (LPL) is an essential element of energy production that delivers free fatty acids t...
journal_title：Trends in molecular medicine
pub_type： 杂志文章,评审
doi：10.1016/j.molmed.2020.07.005
更新日期：2020-12-01 00:00:00
abstract：:Accumulating evidence has revealed that immunogenic cell death triggered by particular chemotherapeutic agents plays a critical role in harnessing antitumor immunity to clinical responses. However, negative regulatory pathways exist which suppress the induction of effective immune responses by a broad spectrum of anti...
journal_title：Trends in molecular medicine
pub_type： 杂志文章,评审
doi：10.1016/j.molmed.2013.06.001
更新日期：2013-09-01 00:00:00
abstract：:Adult skeletal muscle has remarkable regenerative potential, which is mainly attributable to a small population of undifferentiated skeletal muscle precursors called satellite cells. These cells reside underneath the basal lamina of skeletal myofibers and can be activated to proliferate, differentiate and fuse to form...
journal_title：Trends in molecular medicine
pub_type： 杂志文章
doi：10.1016/j.molmed.2006.03.002
更新日期：2006-05-01 00:00:00
abstract：:Environmental effects on the materno-foetal interaction determine birth outcomes that predict health over the lifespan. Thus, maternal undernutrition or stress associate with low birth weight, leading to an increased risk of metabolic and cardiovascular illness in the offspring. We argue that these effects are, in par...
journal_title：Trends in molecular medicine
pub_type： 杂志文章
doi：10.1016/j.molmed.2007.05.003
更新日期：2007-07-01 00:00:00
