Abstract：
:Lafora disease (LD, OMIM #254780) is a rare, recessively inherited neurodegenerative disease with adolescent onset, resulting in progressive myoclonus epilepsy which is fatal usually within ten years of symptom onset. The disease is caused by loss-of-function mutations in either of the two genes EPM2A (laforin) or EPM2B (malin). It characteristically involves the accumulation of insoluble glycogen-derived particles, named Lafora bodies (LBs), which are considered neurotoxic and causative of the disease. The pathogenesis of LD is therefore centred on the question of how insoluble LBs emerge from soluble glycogen. Recent data clearly show that an abnormal glycogen chain length distribution, but neither hyperphosphorylation nor impairment of general autophagy, strictly correlates with glycogen accumulation and the presence of LBs. This review summarizes results obtained with patients, mouse models, and cell lines and consolidates apparent paradoxes in the LD literature. Based on the growing body of evidence, it proposes that LD is predominantly caused by an impairment in chain-length regulation affecting only a small proportion of the cellular glycogen. A better grasp of LD pathogenesis will further develop our understanding of glycogen metabolism and structure. It will also facilitate the development of clinical interventions that appropriately target the underlying cause of LD.
journal_name
Int J Mol Scijournal_title
International journal of molecular sciencesauthors
Sullivan MA,Nitschke S,Steup M,Minassian BA,Nitschke Fdoi
10.3390/ijms18081743subject
Has Abstractpub_date
2017-08-11 00:00:00issue
8issn
1422-0067pii
ijms18081743journal_volume
18pub_type
杂志文章,评审abstract：:Apocynin, also known as acetovanillone, is a natural organic compound structurally related to vanillin. Apocynin is known to be an inhibitor of NADPH (Nicotinamide adenine dinucleotide phosphate) oxidase activity and is highly effective in suppressing the production of superoxide. The neuroprotective effects of apocyn...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms19103087
更新日期：2018-10-09 00:00:00
abstract：:1,25-dihydroxyvitamin D3 (1,25D3) is implicated in many cellular functions, including cell proliferation and differentiation, thus exerting potential antitumor effects. A major limitation for therapeutic use of 1,25D3 are potent calcemic activities. Therefore, synthetic analogs of 1,25D3 for use in anticancer therapy ...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms20174183
更新日期：2019-08-26 00:00:00
abstract：:Ionic liquids, considered "green" chemicals, are widely used in many areas of analytical chemistry due to their unique properties. Recently, ionic liquids have been used as a kind of novel additive in separation and combined with silica to synthesize new stationary phase as separation media. This review will focus on ...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms10062591
更新日期：2009-06-04 00:00:00
abstract：:The uncontrolled migration of vascular smooth muscle cells (VSMCs) into the intima is a critical process in the development of atherosclerosis. Evodiamine, an indole alkaloid extracted from the Chinese medicine evodia, has been shown to inhibit tumor cell invasion and protect the cardiovascular system, but its effects...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms161226093
更新日期：2015-11-26 00:00:00
abstract：:Colorectal cancer (CRC) is a highly prevailing cancer and the fourth leading cause of cancer mortality worldwide. Aberrant expression of antiapoptotic BCL-2 family proteins is closely linked to neoplastic progression and chemoresistance. Obatoclax is a clinically developed drug, which binds antiapoptotic BCL-2, BCL-xL...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms21051773
更新日期：2020-03-05 00:00:00
abstract：:Type 2 Diabetes Mellitus (T2DM), one of the most common metabolic disorders, is caused by a combination of two primary factors: defective insulin secretion by pancreatic β-cells and the inability of insulin-sensitive tissues to respond appropriately to insulin. Because insulin release and activity are essential proces...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms21176275
更新日期：2020-08-30 00:00:00
abstract：:Glutamate is not only a neurotransmitter but also an important neurotoxin in central nervous system (CNS). Chronic elevation of glutamate induces both neuronal and glial cell apoptosis. However, its effect on astrocytes is complex and still remains unclear. In this study, we investigated whether morphine, a common opi...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms17101523
更新日期：2016-10-24 00:00:00
abstract：:We investigated TLR10 expression in human monocytes, THP-1 cells, cultured in hypoxia (3% O(2)). Levels of both TLR10 mRNA and protein in THP-1 cells cultured in hypoxia were significantly higher than those cultured in normoxia (20% O(2)). We examined intracellular reactive oxygen species (ROS) content in hypoxic cell...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms11103769
更新日期：2010-09-29 00:00:00
abstract：:In the absence of lymphatics, fluid and solutes such as amyloid-β (Aβ) are eliminated from the brain along basement membranes in the walls of cerebral capillaries and arteries-the Intramural Peri-Arterial Drainage (IPAD) pathway. IPAD fails with age and insoluble Aβ is deposited as plaques in the brain and in IPAD pat...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms21041225
更新日期：2020-02-12 00:00:00
abstract：:The protective effect of sesamin (SES) from sesame meal on NIT-1 pancreatic β-cells damaged by streptozotocin (STZ) in vitro was investigated. The cell viability, insulin secretion, the activity of superoxide dismutase(SOD), glutathione peroxidase (GSHpx) and the content of reduced glutathione (GSH) increased signific...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms131216961
更新日期：2012-12-11 00:00:00
abstract：:One of the major goals of the Chromosome-Centric Human Proteome Project (C-HPP) is to catalog and annotate a myriad of heterogeneous proteoforms, produced by ca. 20 thousand genes. To achieve a detailed and personalized understanding into proteomes, we suggest using a customized RNA-seq library of potential proteoform...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms21113813
更新日期：2020-05-27 00:00:00
abstract：:Bradyrhizobium diazoefficiens is a nitrogen-fixing endosymbiont, which can grow inside root-nodule cells of the agriculturally important soybean and other host plants. Our previous studies described B. diazoefficiens host-specific global expression changes occurring during legume infection at the transcript and protei...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms17060815
更新日期：2016-05-27 00:00:00
abstract：:The mechanistic target of rapamycin complex 1 (mTORC1) coordinates cellular growth and metabolism with environmental inputs to ensure that cells grow only under favourable conditions. When active, mTORC1 stimulates biosynthetic pathways including protein, lipid and nucleotide synthesis and inhibits cellular catabolism...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms19030818
更新日期：2018-03-12 00:00:00
abstract：:Reptiles are a rare model object for space research. However, some reptile species demonstrate effective adaptation to spaceflight conditions. The main scope of this review is a comparative analysis of reptile experimental exposure in weightlessness, demonstrating the advantages and shortcomings of this model. The des...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms20123019
更新日期：2019-06-20 00:00:00
abstract：:At present, due to the growing attention focused on the issue of tendon-bone healing, we carried out an animal study of the use of genetic intervention combined with cell transplantation for the promotion of this process. Here, the efficacy of bone marrow stromal cells infected with bone morphogenetic protein-2 (BMP-2...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms131013605
更新日期：2012-10-22 00:00:00
abstract：:The medicinal herbal plant has been commonly used for prevention and intervention of disease and health promotions worldwide. Brazilein is a bioactive compound extracted from Caesalpinia sappan Linn. Several studies have showed that brazilein exhibited the immune suppressive effect and anti-oxidative function. However...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms161126048
更新日期：2015-11-18 00:00:00
abstract：:Among human supernumerary marker chromosomes, the occurrence of isodicentric form of 15 origin is relatively well known due to its high frequency, both in terms of gene content and associated clinical symptoms. The associated epilepsy and autism are typically more severe than in cases with interstitial 15q duplication...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms20194935
更新日期：2019-10-05 00:00:00
abstract：:Cell adhesion ability is one of the components to establish cell organization and shows a great contribution to human body construction consisting of various types of cells mixture to orchestrate tissue specific function. The cell adhesion molecule 1 (CADM1) is a molecule of cell adhesion with multiple functions and h...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms21249732
更新日期：2020-12-20 00:00:00
abstract：:In the last decade, a wide range of avian influenza viruses (AIVs) have infected various mammalian hosts and continuously threaten both human and animal health. It is a result of overcoming the inter-species barrier which is mostly associated with gene reassortment and accumulation of mutations in their gene segments....
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms18122706
更新日期：2017-12-13 00:00:00
abstract：:Ganoderma lucidum polysaccharide (GLP) is a biologically active substance reported to possess anti-tumor ability. Nonetheless, the mechanisms of GLP-stimulated apoptosis are still unclear. This study aims to determine the inhibitory and apoptosis-inducing effects of GLP on HCT-116 cells. We found that GLP reduced cell...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms15059103
更新日期：2014-05-22 00:00:00
abstract：:In this report, the use of fluorescence detection coupled capillary electrophoresis (CE-FL) allowed us to fully characterize the antigen-antibody interaction. CE-FL allowed separation of unbound quantum dots (QDs) and ligand bound QDs and also revealed an ordered assembly of biomolecules on QDs. Further, we observed F...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms140919146
更新日期：2013-09-17 00:00:00
abstract：:Generally, the prevalence of epilepsy does not exceed 0.9% of the population and approximately 70% of epilepsy patients may be adequately controlled with antiepileptic drugs (AEDs). Moreover, status epilepticus (SE) or even a single seizure may produce neurodegeneration within the brain and SE has been recognized as o...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms21072340
更新日期：2020-03-28 00:00:00
abstract：:Alzheimer's disease (AD) is the most widespread diagnosed cause of dementia in the elderly. It is a progressive neurodegenerative disease that causes memory loss as well as other detrimental symptoms that are ultimately fatal. Due to the urgent nature of this disease, and the current lack of success in treatment and p...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms21010332
更新日期：2020-01-03 00:00:00
abstract：:Infected or damaged tissues release multiple "alert" molecules such as alarmins and damage-associated molecular patterns (DAMPs) that are recognized by innate immune receptors, and induce tissue inflammation, regeneration, and repair. Recently, an extract from inflamed rabbit skin inoculated with vaccinia virus (Neuro...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms21186456
更新日期：2020-09-04 00:00:00
abstract：:Members of neuropeptide B/W signaling system have been predominantly detected and mapped within the CNS. In the rat, this system includes neuropeptide B (NPB), neuropeptide W (NPW) and their specific receptor NPBWR1. This signaling system has a wide spectrum of functions including a role in modulation of inflammatory ...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms21217827
更新日期：2020-10-22 00:00:00
abstract：:We evaluated the association between prostate cancer non-coding RNA 1 (PRNCR1) polymorphisms and the risk of developing gastric cancer (GC) and GC subgroups in Korea. A case-control study was conducted with 437 GC patients and 357 healthy controls using a TaqMan genotyping assay. A chi-squared test, binary logistic re...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms20133355
更新日期：2019-07-08 00:00:00
abstract：:Obesity is a worldwide epidemic problem and correlates to varieties of acute or chronic lung diseases such as acute respiratory distress syndrome, chronic obstructive pulmonary disease, and pulmonary fibrosis. An increase of leptin, a kind of adipokine, in lean mice plasma has been found to impair immune responses and...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms20051078
更新日期：2019-03-02 00:00:00
abstract：:Despite the low mortality rates, well-differentiated thyroid carcinomas (WDTC) frequently relapse. BRAF and TERT mutations have been extensively related to prognosis in thyroid cancer. In this study, the methylation levels of selected CpGs (5-cytosine-phosphate-guanine-3) comprising a classifier, previously reported b...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms20061334
更新日期：2019-03-16 00:00:00
abstract：:The challenge of effectively delivering therapeutic agents to brain has led to an entire field of active research devoted to overcome the blood brain barrier (BBB) and efficiently deliver drugs to brain. This review focusses on exploring the facets of a novel platform designed for the delivery of drugs to brain. The p...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms17060806
更新日期：2016-05-25 00:00:00
abstract：:Although cancer is a leading cause of death, significant breakthroughs have been made in its treatment in recent years. In particular, increasingly effective cancer vaccines are being developed, including some for colorectal cancer. There are also currently a variety of compounds that can act as adjuvants, such as sig...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms20143403
更新日期：2019-07-11 00:00:00
