Abstract：
:Lysosomal storage disorders (LSDs) are one of the most common human genetic metabolic diseases caused by gene mutations. Up to now, more than 70 LSDs have been identified and mainly divided into five categories. LSDs are mainly caused by defects in the function of enzymes or lysosomal-related proteins in lysosomes, which causes progressive accumulation of undigested macromolecules within the cell and results in stress and dysfunction in cells, tissues and organs. LSDs can result in multiple systemic damages, including the nervous system, skeletal system and reticuloendothelial system, especially in the early stages of the disease. The central nervous system is severely affected. Lysosome is the final degradative organelles for autophagy by which macromolecules and damaged cellular components and organelles are degraded. Impairment in autophagy is a central and common mechanism underlying many LSDs. The modulation of autophagy has been considered as novel therapeutic approach for LSDs.
journal_name
Adv Exp Med Bioljournal_title
Advances in experimental medicine and biologyauthors
Ren H,Wang Gdoi
10.1007/978-981-15-4272-5_5subject
Has Abstractpub_date
2020-01-01 00:00:00pages
87-102eissn
0065-2598issn
2214-8019journal_volume
1207pub_type
杂志文章,评审abstract：:Probiotics are defined as live microorganisms that, when administered in adequate amount, confer a health benefit on the host. Amongst the many benefits associated with the consumption of probiotics, modulation of the immune system has received the most attention. Several animal and human studies have provided unequiv...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-0-387-74087-4_17
更新日期：2008-01-01 00:00:00
abstract：:Drug resistance is a serious impediment to the treatment of cancer. The use of anti-epidermal growth factor receptor (EGFR) monoclonal antibody therapies in patients with metastatic colorectal cancer is guided by the presence of activating point mutations in KRAS and NRAS genes in the primary tumour. However, RAS wild...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-3-030-02771-1_9
更新日期：2018-01-01 00:00:00
abstract：:Protein folding and structure have been of interest since the dawn of protein chemistry. Following translation from the ribosome, a protein must go through various steps to become a functional member of the cellular society. Every protein has a unique function in the cell and is classified on this basis. Proteins that...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-3-319-23603-2_12
更新日期：2015-01-01 00:00:00
abstract：:Mankind has always been interested in investigating and searching for solutions regarding the body deterioration due to factors such as disease, damage caused by trauma, toxins or radiation or just the process of ageing. Here, we summarize the history of scientific advances in solid organ transplantation, in the areas...
journal_title：Advances in experimental medicine and biology
pub_type： 历史文章,杂志文章
doi：10.1007/978-1-4614-2098-9_2
更新日期：2012-01-01 00:00:00
abstract：:The cerebral tissue oxygenation index (TOI) and fractional tissue oxygen extraction (FTOE) reflect the cerebral oxygenation. We studied the effect of glycaemia on the TOI and FTOE, as measured by near-infrared-spectroscopy (NIRS). We continuously measured TOI, glycaemia, mean arterial blood pressure (MABP), saturation...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4419-1241-1_66
更新日期：2010-01-01 00:00:00
abstract：:Infectious, genetic factors, and autoimmunity have been considered as potential causes of sarcoidosis (SA). Pathological similarities between SA and tuberculosis (TB) suggest M. tuberculosis antigen(s) as causative agent(s). Our published comparative analysis of the human leukocyte antigens (HLA) system in patients wi...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-94-007-4549-0_29
更新日期：2013-01-01 00:00:00
abstract：:Multiple lines of evidence support a central role of hormones in the etiology of breast, endometrial and ovarian cancers. Evidence of an association between circulating hormones and these cancers varies by both hormone and cancer site, with the most consistent associations observed for sex steroid hormones and breast ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：
更新日期：2008-01-01 00:00:00
abstract：:Cell and DNA replicative potentials were studied in 10 strains of skin fibroblasts from unrelated patients with the Werner syndrome (WS) and in a progeric CRL 1277 strain. The lifespans of all WS strains and of CRL 1277 cells are greatly abbreviated in vitro, due to large fractions of non-cycling cells and the basic p...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4684-7853-2_23
更新日期：1985-01-01 00:00:00
abstract：:Digenetic trematodes form a major group of human parasites, affecting a large number of humans, especially in endemic foci. Over 100 species have been reported infecting humans, including blood, lung, liver, and intestinal parasites. Traditionally, trematode infections have been diagnosed by parasitological methods ba...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-030-18616-6_14
更新日期：2019-01-01 00:00:00
abstract：:Excessive consumption of alcohol is a leading cause of lifestyle-induced morbidity and mortality worldwide. Although long-term alcohol abuse has been shown to be detrimental to the liver, brain and many other organs, our understanding of the exact molecular mechanisms by which this occurs is still limited. In tissues,...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-98788-0_14
更新日期：2018-01-01 00:00:00
abstract：:Under certain conditions, detection of a masked tone is improved by a preceding sound ("precursor"). This phenomenon is referred to as the "temporal effect" or "overshoot". A prevalent model of overshoot, referred to as the "gain reduction model", posits that overshoot is caused by efferent reduction in cochlear gain ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4614-1590-9_8
更新日期：2013-01-01 00:00:00
abstract：:During central nervous system (CNS) development, a complex series of events play out, starting with the establishment of neural progenitor cells, followed by their asymmetric division and formation of lineages and the differentiation of neurons and glia. Studies in the Drosophila melanogaster embryonic CNS have reveal...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-030-34436-8_3
更新日期：2020-01-01 00:00:00
abstract：:A system for the extracorporeal treatment of end-stage liver failure patients has been developed and is now in clinical studies. This HepatAssist 2000 system consists of perfusing the plasma of the patient through a hollow-fiber bioreactor containing primary porcine hepatocytes. The goal of the system is to assist the...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4615-4863-8_31
更新日期：1998-01-01 00:00:00
abstract：:The success rate from investigational new drug filing to drug approval has remained low for decades despite major scientific and technological advances, and a steady increase of funding and investment. The failure to demonstrate drug efficacy has been the major reason that drug development does not progress beyond pha...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-3-030-28471-8_7
更新日期：2019-01-01 00:00:00
abstract：:Three isoforms of the major birch pollen allergen, Bet v, 1 from Betula verrucosa have been expressed as recombinant proteins in E. coli and purified. The immunochemical properties of recombinant isoforms (rBet v 1) differed on immunoblots when compared using Mabs and birch pollen allergic patients serum IgE. 2-D gel ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4615-5855-2_35
更新日期：1996-01-01 00:00:00
abstract：:The human platelet-activating factor receptor gene exists as a single copy on chromosome 1. Two 5'-noncoding exons (Exon 1 and 2) has distinct transcription initiation sites and promoters. These exons are alternatively spliced to a common splice acceptor site on exon 3 that contains a total coding regions. The transcr...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：
更新日期：1996-01-01 00:00:00
abstract：:Epidemiologic studies have shown that several environmental factors are associated with coronary heart disease (CHD). Most of them are predisposing factors known also as risk factors. Other factors appear to have preventive effects. Blood lipids have been considered the main blood mediator between most of these fac...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4684-8616-2_14
更新日期：1984-01-01 00:00:00
abstract：:The purpose of this study was to investigate the effect of dietary taurine supplementation on bone mineral density (BMD) and bone mineral content (BMC) in rats. Twenty Sprague-Dawley male rats (body weight 200 ± 10 g) were divided into two groups, control and taurine group (2% taurine-supplemented diet). All rats wer...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4614-6093-0_6
更新日期：2013-01-01 00:00:00
abstract：:In vivo imaging/spectroscopic biomarkers for solid tumor aggressiveness are needed in the clinic to facilitate cancer diagnosis and treatment strategies. In mouse models of human melanoma and breast cancer, we were able to detect the metabolic differences among tumors of different metastatic potential and between norm...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4614-7411-1_32
更新日期：2013-01-01 00:00:00
abstract：:RPE65 is essential for both rod- and cone-mediated vision. So far, more than 120 disease-associated mutations have been identified in the human RPE65 gene. Differential clinical manifestations suggested that some patients suffer from null mutations while others retain residual RPE65 activity and some useful vision. To...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-3-319-17121-0_45
更新日期：2016-01-01 00:00:00
abstract：:The cytoskeleton consists of filamentous protein polymers that form organized structures, contributing to a multitude of cell life aspects. It includes three types of polymers: the actin microfilaments, the microtubules and the intermediate filaments. Decades of research have implicated the cytoskeleton in processes t...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-030-25650-0_12
更新日期：2019-01-01 00:00:00
abstract：:In summary, it can be said that in spite of possible limitations, this technique provides previously unattainable data on capillary flow pattern in the myocardium. Qualitative and quantitative results indicate that the following anatomical and physiological concepts should be incorporated in any further modelling of o...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4615-9510-6_53
更新日期：1988-01-01 00:00:00
abstract：:Diagnosis of allergic conditions is based on skin prick- and/or intradermal tests and on serology. Both methods make use of allergenic preparations and the results mainly depend on the quality of the substances applied and on the reactivity of the subjects. Recombinant allergens can be produced as highly pure proteins...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4615-5855-2_15
更新日期：1996-01-01 00:00:00
abstract：:While studies of simple acoustic features have provided excellent bases for models of spatial hearing, we are seeking, here, to create a new paradigm for examination of shared attention and scene analysis in natural environments, where the listener is confronted with semantic information from multiple sources. In this...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4614-1590-9_58
更新日期：2013-01-01 00:00:00
abstract：:Although many studies have described the role of periostin in various diseases, the functions of periostin derived from alternative splicing and proteinase cleavage at its C-terminus remain unknown. Further experiments investigating the periostin structures that are relevant to diseases are essential for an in-depth u...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-981-13-6657-4_2
更新日期：2019-01-01 00:00:00
abstract：:Spinal muscular atrophies (SMA) are frequent autosomal recessive disorders characterized by degeneration of lower motor neurons. SMA are caused by mutations of the survival of motor neuron gene (SMN1) leading to a reduction of the SMN protein amount. The identification of SMN interacting proteins involved in the forma...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-90-481-2813-6_16
更新日期：2009-01-01 00:00:00
abstract：:Although the gasotransmitter hydrogen sulfide (H(2)S) generally dilates systemic arteries in mammals, it causes constriction of pulmonary arteries. In isolated rat pulmonary arteries, we have shown that the H(2)S precursor cysteine enhances both hypoxic pulmonary vasoconstriction and tension development caused by the ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-3-319-18440-1_10
更新日期：2015-01-01 00:00:00
abstract：:Myocardial ischemia-reperfusion (IR) injury during acute myocardial infarction or open-heart surgery would promote oxidative stress, leading to the accumulation of reactive aldehydes that cause cardiac damage. It has been well demonstrated that aldehyde dehydrogenase (ALDH)-2 is an important cardioprotective enzyme fo...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-981-13-6260-6_6
更新日期：2019-01-01 00:00:00
abstract：:Multiple senses, including hearing, touch and osmotic regulation, require the ability to convert force into an electrical signal: A process called mechanotransduction. Mechanotransduction occurs through specialized proteins that open an ion channel pore in response to a mechanical stimulus. Many of these proteins rema...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4614-1704-0_9
更新日期：2012-01-01 00:00:00
abstract：:Inhibition of human phospholipases A2 by cis-unsaturated fatty acids and their oxidative metabolites and/or polymers was studied using partially purified human phospholipases A2 and [1-14C]oleate labelled, autoclaved E. coli as substrate. As previously reported for other phospholipases A2, oleic and arachidonic acids ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4613-0651-1_15
更新日期：1990-01-01 00:00:00
