Abstract:
:In recent years, genomic, animal and cell biology studies have implicated deficiencies in retromer-mediated trafficking of proteins in an increasing number of neurodegenerative diseases including Alzheimer's Disease (AD), Parkinson's Disease (PD) and Frontotemporal Lobar Degener-ation (FTLD). The retromer complex, which is highly conserved across all eukaryotes, regulates the sorting of transmembrane proteins out of endo-somes to the cell surface or to the trans-Golgi network. Within retromer, cargo selection and binding are performed by a trimer of the Vps26, Vps29 and Vps35 proteins, named the "Cargo-Selective Complex (CSC)". Sorting of cargo into tubules for distribution to the trans-Golgi network or the cell sur-face is achieved through the dimeric sorting nexin (SNX) component of retromer and accessory proteins such as the WASH complex which medi-ates the formation of discrete endosomal tubules enabling the sorting of cargo into distinct pathways through production of filamentous actin patch-es. In the present article, we review the molecular structure and function of the retromer and summarize the evidence linking retromer dysfunction to neurodegenerative disease.
journal_name
Curr Genomicsjournal_title
Current genomicsauthors
Reitz Cdoi
10.2174/1389202919666171024122809subject
Has Abstractpub_date
2018-05-01 00:00:00pages
279-288issue
4eissn
1389-2029issn
1875-5488pii
CG-19-279journal_volume
19pub_type
杂志文章,评审相关文献
CURRENT GENOMICS文献大全abstract::Protein folding and clearance networks sense and respond to misfolded and aggregation-prone proteins by activating cytoprotective cell stress responses that safeguard the proteome against damage, maintain the health of the cell, and enhance lifespan. Surprisingly, cellular proteostasis undergoes a sudden and widesprea...
journal_title:Current genomics
pub_type: 杂志文章
doi:10.2174/1389202915666140221005023
更新日期:2014-04-01 00:00:00
abstract::The epidermal growth factor receptor (EGFR) is a membrane-bound, 170 kDa, protein tyrosine kinase that plays an important role in tumorigenesis. The EGFR gene, which is composed of over 168 kb of sequence, including a 123-kb first intron, is frequently amplified and rearranged in malignant gliomas leading to the expre...
journal_title:Current genomics
pub_type: 杂志文章
doi:10.2174/138920207780833838
更新日期:2007-05-01 00:00:00
abstract::MicroRNAs (miRNAs) are short, noncoding, and single-stranded RNA molecules that negatively regulate gene expression. They are evolutionarily conserved from plants to animals. During the last decade, miRNAs have been demonstrated as regulators in fundamental biological processes, including cell growth, proliferation, d...
journal_title:Current genomics
pub_type: 杂志文章
doi:10.2174/138920210790886853
更新日期:2010-04-01 00:00:00
abstract::The study of immune related genes in lampreys and hagfish provides a unique perspective on the evolutionary genetic underpinnings of adaptive immunity and the evolution of vertebrate genomes. Separated from their jawed cousins at the stem of the vertebrate lineage, these jawless vertebrates have many of the gene famil...
journal_title:Current genomics
pub_type: 杂志文章
doi:10.2174/138920212799860670
更新日期:2012-04-01 00:00:00
abstract::According to the Developmental Origin of Health and Disease (DOHaD) concept, maternal obesity and the resulting accelerated growth in neonates predispose offspring to obesity and associated metabolic diseases that may persist across generations. In this context, the adipose tissue has emerged as an important player du...
journal_title:Current genomics
pub_type: 杂志文章,评审
doi:10.2174/1389202920666191118092852
更新日期:2019-09-01 00:00:00
abstract::The genetic background is unknown for the 50-60% of the HNPCC families, who fulfill the Amsterdam criteria, but do not have a mutation in an MMR gene, and is referred to as FCCTX. This study reviews the clinical, morphological and molecular characteristics of FCCTX, and discusses the molecular genetic methods used to ...
journal_title:Current genomics
pub_type: 杂志文章,评审
doi:10.2174/1389202918666170307161643
更新日期:2017-08-01 00:00:00
abstract:Background:The postgenomic era is featured by massive data collection and analyses from various large scale-omics studies. Despite the promising capability of systems biology and bioinformatics to handle large data sets, data interpretation, especially the translation of -omics data into clinical implications, has been...
journal_title:Current genomics
pub_type: 杂志文章
doi:10.2174/1389202918666170717145716
更新日期:2018-04-01 00:00:00
abstract::RNA-Seq is a recently developed sequencing technology, that through the analysis of cDNA allows for unique insights into the transcriptome of a cell. The data generated by RNA-Seq provides information on gene expression, alternative splicing events and the presence of non-coding RNAs. It has been realised non-coding R...
journal_title:Current genomics
pub_type: 杂志文章
doi:10.2174/1389202911314030003
更新日期:2013-05-01 00:00:00
abstract::Human chromosomal fragile sites are specific genomic regions which exhibit gaps or breaks on metaphase chromosomes following conditions of partial replication stress. Fragile sites often coincide with genes that are frequently rearranged or deleted in human cancers, with over half of cancer-specific translocations con...
journal_title:Current genomics
pub_type: 杂志文章
doi:10.2174/138920210791616699
更新日期:2010-08-01 00:00:00
abstract::The ascomycete Trichoderma reesei is used for the production of plant cell wall-degrading enzymes in industrial scale. The interplay of the transactivator Xyr1 and the repressor Cre1 mainly regulates the expression of these enzymes. During induc-ing conditions, such as in the presence of sophorose, the transcription o...
journal_title:Current genomics
pub_type: 杂志文章
doi:10.2174/1389202917666151116211812
更新日期:2016-04-01 00:00:00
abstract:Introduction:N6-methyladenosine (m6A) is one of the most widely studied epigenetic modifications. It plays important roles in various biological processes, such as splicing, RNA localization and degradation, many of which are related to the functions of introns. Although a number of computational approaches have been p...
journal_title:Current genomics
pub_type: 杂志文章
doi:10.2174/1389202921666200211104140
更新日期:2020-01-01 00:00:00
abstract::Women outlive men, but life expectancy is not influenced by hormone replacement (estrogen + progestin) therapy. Estrogens appear to protect brain, cardiovascular tissues, and bone from aging. Estrogens regulate genes directly through binding to estrogen receptors alpha and beta (ERalpha and ERbeta) that are ligand-act...
journal_title:Current genomics
pub_type: 杂志文章
doi:10.2174/138920209788185289
更新日期:2009-05-01 00:00:00
abstract:Background:The cardiac system is a combination of a complex structure, various cells, and versatile specified functions and sophisticated regulatory mechanisms. Moreover, cardiac diseases that encompass a wide range of endogenous conditions, remain a serious health burden worldwide. Recent genome-wide profiling techniq...
journal_title:Current genomics
pub_type: 杂志文章,评审
doi:10.2174/1389202921999200604123914
更新日期:2020-12-01 00:00:00
abstract::A genome-wide scanning of Sorghum bicolor resulted in the identification of 25 SbHsf genes. Phylogenetic analysis shows the ortholog genes that are clustered with only rice, representing a common ancestor. Promoter analysis revealed the identification of different cis-acting elements that are responsible for abiotic a...
journal_title:Current genomics
pub_type: 杂志文章
doi:10.2174/1389202916666150313230812
更新日期:2015-08-01 00:00:00
abstract::Knowledge on the genetics of movement disorders has advanced significantly in recent years. It is now recognized that disorders of the basal ganglia have genetic basis and it is suggested that molecular genetic data will provide clues to the pathophysiology of normal and abnormal motor control. Progress in molecular g...
journal_title:Current genomics
pub_type: 杂志文章
doi:10.2174/1389202914666131210213327
更新日期:2014-02-01 00:00:00
abstract::Increasing evidence links genomic and epigenomic instability, including multiple fragile sites regions to neuropsychiatric diseases including schizophrenia and autism. Cancer is the only other disease associated with multiple fragile site regions, and genome and epigenomic instability is a characteristic of cancer. Re...
journal_title:Current genomics
pub_type: 杂志文章
doi:10.2174/138920210793176001
更新日期:2010-09-01 00:00:00
abstract::Thyroid gland presents a wide spectrum of tumours derived from follicular cells that range from well differentiated, papillary and follicular carcinoma (PTC and FTC, respectively), usually carrying a good prognosis, to the clinically aggressive, poorly differentiated (PDTC) and undifferentiated thyroid carcinoma (UTC)...
journal_title:Current genomics
pub_type: 杂志文章
doi:10.2174/138920211798120853
更新日期:2011-12-01 00:00:00
abstract::Bcl-2 proteins are critical regulators of mitochondrial membrane permeability and the proapoptotic mitochondrial pathway. The family encloses pro- and antiapoptotic factors encoded by over 15 genes, which frequently give rise to alternative splice products. Antiapoptotic, proapoptotic multidomain, and proapoptotic BH3...
journal_title:Current genomics
pub_type: 杂志文章
doi:10.2174/138920208785699571
更新日期:2008-09-01 00:00:00
abstract::After human genome sequencing and rapid changes in genome sequencing methods, we have entered into the era of rapidly accumulating genome-sequencing data. This has derived the development of several types of methods for representing results of genome sequencing data. Circular genome visual-ization tools are also criti...
journal_title:Current genomics
pub_type: 杂志文章,评审
doi:10.2174/1389202920666190314092044
更新日期:2019-02-01 00:00:00
abstract:Background:Duchenne Muscular Dystrophy (DMD) is a progressive, fatal neuromuscular disorder caused by mutations in the DMD gene. Emerging antisense oligomer based exon skipping therapy provides hope for the restoration of the reading frame. Objectives:Population-based DMD mutation database may enable exon skipping to ...
journal_title:Current genomics
pub_type: 杂志文章
doi:10.2174/1389202920666191107142754
更新日期:2019-11-01 00:00:00
abstract::In nature, microbes do not exist in isolation but co-exist in a variety of ecological and biological environments and on various host organisms. Due to their close proximity, these microbes interact among themselves, and also with the hosts in both positive and negative manners. Moreover, these interactions may modula...
journal_title:Current genomics
pub_type: 杂志文章,评审
doi:10.2174/1389202919666180911144055
更新日期:2018-12-01 00:00:00
abstract::Genomic disorders are a clinically diverse group of conditions caused by gain, loss or re-orientation of a genomic region containing dosage-sensitive genes. One class of genomic disorder is caused by hemizygous deletions resulting in haploinsufficiency of a single or, more usually, several genes. For example, the hete...
journal_title:Current genomics
pub_type: 杂志文章
doi:10.2174/138920208784340795
更新日期:2008-05-01 00:00:00
abstract::The advent of genomics in the study of developmental mechanisms has brought a trove of information on gene datasets and regulation during development, where the Zic family of zinc-finger proteins plays an important role. Genomic analysis of the modes of action of Zic3 in pluripotent cells demonstrated its requirement ...
journal_title:Current genomics
pub_type: 杂志文章
doi:10.2174/1389202916666150205124519
更新日期:2015-04-01 00:00:00
abstract::Analytical models usually assume an additive sex effect by treating it as a covariate to identify genetic associations with sex-influenced traits. Their underlying assumptions are violated by ignoring interactions of sex with genetic factors and heterogeneous genetic effects by sex. Methods to deal with the problems a...
journal_title:Current genomics
pub_type: 杂志文章
doi:10.2174/1389202917666160420142601
更新日期:2015-10-01 00:00:00
abstract::Papillary microcarcinoma of the thyroid (mPTC) is defined by the WHO as a papillary thy-roid cancer measuring 10mm or less in diameter and it is nowadays a topic of intense debate among the members of the medical community due to its apparent "epidemic" rise. Although these tumors follow almost always an indolent clin...
journal_title:Current genomics
pub_type: 杂志文章,评审
doi:10.2174/1389202918666170105094459
更新日期:2017-06-01 00:00:00
abstract::Until recently, understanding the regulatory behavior of cells has been pursued through independent analysis of the transcriptome or the proteome. Based on the central dogma, it was generally assumed that there exist a direct correspondence between mRNA transcripts and generated protein expressions. However, recent st...
journal_title:Current genomics
pub_type: 杂志文章
doi:10.2174/1389202911314020003
更新日期:2013-04-01 00:00:00
abstract::Carcinogenesis involves the inactivation or inhibition of genes that function as tumor suppressors. Deletions, mutations, or epigenetic silencing of tumor suppressor genes can lead to altered growth, differentiation, and apoptosis. DNA methylation and histone modifications are important epigenetic mechanisms of gene r...
journal_title:Current genomics
pub_type: 杂志文章
doi:10.2174/138920208783884892
更新日期:2008-03-01 00:00:00
abstract::Circadian clocks are intrinsic, time-tracking systems that bestow upon organisms a survival advantage. Under natural conditions, organisms are trained to follow a 24-h cycle under environmental time cues such as light to maximize their physiological efficiency. The exact timing of this rhythm is established via cell-a...
journal_title:Current genomics
pub_type: 杂志文章,评审
doi:10.2174/1389202919666191014094349
更新日期:2019-08-01 00:00:00
abstract::Antigenic differences between normal and malignant cells of the cancer patient form the rationale for clinical immunotherapeutic strategies. Because the antigenic phenotype of neoplastic cells varies widely among different cells within the same malignant cell-population, immunization with a vaccine that stimulates imm...
journal_title:Current genomics
pub_type: 杂志文章
doi:10.2174/138920206778426951
更新日期:2006-06-01 00:00:00
abstract::The important role of non coding RNAs (ncRNAs) in the cell has made their identification a critical issue in the biological research. However, traditional approaches such as PT-PCR and Northern Blot are costly. With recent progress in bioinformatics and computational prediction technology, the discovery of ncRNAs has ...
journal_title:Current genomics
pub_type: 杂志文章
doi:10.2174/13892029113149990005
更新日期:2013-09-01 00:00:00