Abstract：
:The number of human genetic disorders shown to be due to defects in membrane trafficking has greatly increased during the past five years. Defects have been identified in components involved in sorting of cargo into transport carriers, vesicle budding and scission, movement of vesicles along cytoskeletal tracks, as well as in vesicle tethering, docking and fusion at the target membrane. The nervous system is extremely sensitive to such disturbances of the membrane trafficking machinery, and the majority of these disorders display neurological defects--particularly diseases affecting the motility of transport carriers along cytoskeletal tracks. In several disorders, defects in a component that represents a fundamental part of the trafficking machinery fail to cause global transport defects but result in symptoms limited to specific cell types and transport events; this apparently reflects the redundancy of the transport apparatus. In groups of closely related diseases such as Hermansky-Pudlak and Griscelli syndromes, identification of the underlying gene defects has revealed groups of genes in which mutations lead to similar phenotypic consequences. New functionally linked trafficking components and regulatory mechanisms have thus been discovered. Studies of the gene defects in trafficking disorders therefore not only open avenues for new therapeutic approaches but also significantly contribute to our knowledge of the fundamental mechanisms of intracellular membrane transport.
journal_name
J Cell Scijournal_title
Journal of cell scienceauthors
Olkkonen VM,Ikonen Edoi
10.1242/jcs.03303subject
Has Abstractpub_date
2006-12-15 00:00:00pages
5031-45issue
Pt 24eissn
0021-9533issn
1477-9137pii
119/24/5031journal_volume
119pub_type
杂志文章,评审abstract：:Integrin-mediated cell adhesion is central to cell survival, differentiation and motility. Many cell responses induced by integrins require both receptor occupancy and receptor aggregation, and appear to be regulated by both biochemical and biophysical means. Multidomain extracellular matrix molecules may serve to fos...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：2002-04-01 00:00:00
abstract：:Recent studies suggest that cytochrome P450 (CYP) epoxygenase-derived epoxyeicosatrienoic acids (EETs) elicit cell proliferation and promote angiogenesis. The aim of this study was to determine the role of CYP 2C8/9-derived EETs in the process of angiogenesis under hypoxic conditions. In human endothelial cells, hypox...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.02674
更新日期：2005-12-01 00:00:00
abstract：:Morphological, enzymic and antigenic data are presented regarding a human bone-marrow stromal cell line maintained for 10 months and subcultured weekly. The main characteristics are a fibroblastoid morphology, diffuse growth in collagen gels, no colony formation in soft gel media, contact inhibition of growth and conv...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：1981-08-01 00:00:00
abstract：:Export out of the endoplasmic reticulum (ER) involves the Sar1 and COPII machinery acting at ER exit sites (ERES). Whether and how cargo proteins are recruited upstream of Sar1 and COPII is unclear. Two models are conceivable, a recruitment model where cargo is actively transported through a transport factor and hande...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.186163
更新日期：2016-10-15 00:00:00
abstract：:Vesicle-vesicle fusion initiated in cell cytoplasm by high Ca(2+) can rapidly erect large membrane boundaries. These might be used as a 'patch' for resealing plasma membrane disruptions. Three central predictions of this 'patch' hypothesis are here established in sea urchin eggs. First, we show that surface markers fo...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：2000-06-01 00:00:00
abstract：:RINGO/Speedy proteins are direct activators of Cdk1 and Cdk2 that have no sequence homology to cyclins. We have characterized the role in cell-cycle progression of a new human member of this protein family referred to as RINGO C. We show that siRNA-mediated knockdown of RINGO C results in premature mitotic exit with m...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.059964
更新日期：2010-08-01 00:00:00
abstract：:Recent studies show that mitochondria and actin filaments work together in two contexts: (1) increased cytoplasmic calcium induces cytoplasmic actin polymerization that stimulates mitochondrial fission and (2) mitochondrial depolarization causes actin assembly around mitochondria, with roles in mitophagy. It is unclea...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.234435
更新日期：2019-09-23 00:00:00
abstract：:Focal adhesions are complex multi-molecular structures that link the actin cytoskeleton to the extracellular matrix through integrin adhesion receptors and play a key role in regulation of many cellular functions. LAR (also known as PTPRF) is a receptor protein tyrosine phosphatase that regulates PDGF signalling and l...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.191379
更新日期：2016-08-01 00:00:00
abstract：:Although changes in mitochondrial size and arrangement accompany both cellular differentiation and human disease, the mechanisms that mediate mitochondrial fusion, fission and morphogenesis in mammalian cells are not understood. We have identified two human genes encoding potential mediators of mitochondrial fusion. T...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：2001-03-01 00:00:00
abstract：:Podosomes are highly dynamic actin-based structures commonly found in motile and invasive cells such as macrophages, osteoclasts and vascular smooth muscle cells. Here, we have investigated the role of caldesmon, an actin-binding protein, in the formation of podosomes in aortic smooth muscle A7r5 cells induced by the ...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.02881
更新日期：2006-05-01 00:00:00
abstract：:We have discovered a novel mitosis-specific human autoantigen that arises at the centromeres of prophase chromosomes, but ultimately participates in formation of an organelle that bisects the cell at late anaphase and during telophase. The organelle, discernible as a three-dimensional disc by confocal microscopy, enco...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：1991-07-01 00:00:00
abstract：:Ligand-dependent nuclear import is crucial for the function of the androgen receptor (AR) in both health and disease. The unliganded AR is retained in the cytoplasm but, on binding 5alpha-dihydrotestosterone, it translocates into the nucleus and alters transcription of its target genes. Nuclear import of AR is mediate...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.022103
更新日期：2008-04-01 00:00:00
abstract：:The control of bull spermatozoon flagellar activity has been investigated using direct current injection into the cells through an impaling glass microelectrode. Negative current injection results in a decrease in the flagellar frequency. Flagellar frequencies can be decreased to zero with high negative currents. This...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：1979-02-01 00:00:00
abstract：:Treatment of cells arrested in the cell cycle at the G1/S-phase boundary with 5 mM caffeine induces premature mitosis, resulting in chromosomal fragmentation and detachment of centromere-kinetochore fragments, which are subsequently attached to the mitotic spindle and segregated in anaphase. Taking advantage of this i...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：1993-06-01 00:00:00
abstract：:During spermatogenesis, the first morphological indication of spermatogonia differentiation is incomplete cytokinesis, followed by the assembly of stable intercellular cytoplasmic communications. This distinctive feature of differentiating male germ cells has been highly conserved during evolution, suggesting that reg...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.00163
更新日期：2002-12-15 00:00:00
abstract：:During the first few cleavages of the zebrafish embryo, daughter blastomeres are loosely associated immediately after furrow ingression, but then gradually cohere. Cohesion appears to be cadherin-dependent, as cadherin and beta-catenin are found at the membrane between cohering blastomeres, and blastomeres fail to coh...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：1998-12-18 00:00:00
abstract：:Currently >50 proteins have been reported to be associated with focal contacts and related ECM adhesions. Most of these contain multiple domains through which they can interact with different molecular partners, potentially forming a dense and heterogeneous protein network at the cytoplasmic faces of the adhesion site...
journal_title：Journal of cell science
pub_type： 评论,杂志文章,评审
doi：
更新日期：2001-10-01 00:00:00
abstract：:Sonic hedgehog (Shh) and its patched-smoothened receptor complex control a variety of functions in the developing central nervous system, such as neural cell proliferation and differentiation. Recently, Shh signaling components have been found to be expressed at the synaptic level in the postnatal brain, suggesting a ...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.247700
更新日期：2020-10-23 00:00:00
abstract：:A UV-damaged DNA binding protein (UV-DDB) is the major source of UV-damaged DNA binding activity in mammalian cell extracts. This activity is defective in at least some xeroderma pigmentosum group E (XP-E) patients; microinjection of the UV-DDB protein into their fibroblasts corrects nucleotide excision repair (NER). ...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：1997-05-01 00:00:00
abstract：:Notch signaling is a conserved signaling pathway implicated in embryogenesis and adult tissue maintenance. Notch signaling strength is strictly regulated, notably by maintaining a controlled pool of functional receptor at the cell surface. Mammalian non-activated Notch receptor is internalized, ubiquitylated by the It...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.130500
更新日期：2013-10-01 00:00:00
abstract：:The main pathology of cystic fibrosis results from obstruction of ducts in several organs by mucous secretions. The cause of this obstruction remains unclear. We have examined expression of the cystic fibrosis transmembrane conductance regulator (CFTR) and of the major pancreatic mucin, MUC1, in primary pancreatic duc...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：1993-06-01 00:00:00
abstract：:Prox1 plays pivotal roles during embryonic lymphatic development and maintenance of adult lymphatic systems by modulating the expression of various lymphatic endothelial cell (LEC) markers, such as vascular endothelial growth factor receptor 3 (VEGFR3). However, the molecular mechanisms by which Prox1 transactivates i...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.083998
更新日期：2011-08-15 00:00:00
abstract：:Changes in cellular behavior that cause epithelial cells to lose adhesiveness, acquire a motile invasive phenotype and metastasize to secondary sites are complex and poorly understood. Molecules that normally function to integrate adhesive spatial information with cytoskeleton dynamics and membrane trafficking probabl...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.031641
更新日期：2008-09-01 00:00:00
abstract：:The process of angiogenesis requires endothelial cells (ECs) to undergo profound changes in shape and polarity. Although this must involve remodelling of the EC cytoskeleton, little is known about this process or the proteins that control it. We used a co-culture assay of angiogenesis to examine the cytoskeleton of EC...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.091066
更新日期：2012-03-15 00:00:00
abstract：:Phosphoinositides regulate myriad cellular processes, acting as potent signaling molecules in conserved signaling pathways and as organelle gatekeepers that recruit effector proteins to membranes. Phosphoinositide-generating enzymes have been studied extensively in yeast and cultured cells, yet their roles in animal d...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.129031
更新日期：2014-03-01 00:00:00
abstract：:We have shown previously, by fluorescent antibody staining, that desmosomal antigens are widely distributed in the tissues of vertebrate animals. Furthermore, we have demonstrated mutual desmosome formation between cells derived from man, cow, dog, chicken and frog. In this paper we have studied the components of desm...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：1986-03-01 00:00:00
abstract：:Distributions of ErbB receptors on membranes of SKBR3 breast cancer cells were mapped by immunoelectron microscopy. The most abundant receptor, ErbB2, is phosphorylated, clustered and active. Kinase inhibitors ablate ErbB2 phosphorylation without dispersing clusters. Modest co-clustering of ErbB2 and EGFR, even after ...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.007658
更新日期：2007-08-15 00:00:00
abstract：:The relative sensitivities of the motors for mitotic chromosome movements and saltatory motion were compared using a nonhydrolyzable analog of ATP, AMP-PNP. K+AMP-PNP was microinjected into PtKl cells at the time of nuclear envelope disassembly or at anaphase onset. To produce a dose-response curve for the effect of A...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：1989-11-01 00:00:00
abstract：:ABCG2 belongs to the ATP-binding cassette superfamily of transmembrane proteins and is ubiquitously expressed in stem cells including those in the developing nervous system. The ability of ABCG2 to preferentially exclude DNA-intercalating dyes is regarded to be the basis for the enrichment of stem cells or progenitors...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.008417
更新日期：2007-08-01 00:00:00
abstract：:Delayed wound healing caused by inefficient re-epithelialization underlines chronic skin lesions such as those found in diabetes. The dioxin receptor (AhR) modulates cell plasticity and migration and its activation by occupational polycyclic aromatic hydrocarbons (PAHs) results in severe skin lesions such as contact h...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.047274
更新日期：2009-06-01 00:00:00
