Abstract：
:Neurofilaments (NFs) are the major intermediate filaments (IFs) of mature neurons. They play important roles in the structure and function of axons. Recently, two mutations in the neurofilament light (NFL) subunit have been identified in families affected by Charcot-Marie-Tooth (CMT) neuropathy type 2. We have characterized the effects of these NFL mutations on the formation of IF networks using a transient transfection system. Both mutations disrupted the self-assembly of human NFL. The Q333P mutant in the rod domain of NFL also disrupted the formation of rat and human NFL/NFM heteropolymers. The phenotypes produced by the P8R mutation in the head domain of NFL were less severe. The P8R mutant NFL co-polymerized with NFM to form bundled filaments and, less often, aggregates. Our results suggest that alterations in the formation of a normal IF network in neurons elicited by these NFL mutations may contribute to the development of Charcot-Marie-Tooth neuropathy.
journal_name
J Cell Scijournal_title
Journal of cell scienceauthors
Perez-Olle R,Leung CL,Liem RKdoi
10.1242/jcs.00148keywords:
subject
Has Abstractpub_date
2002-12-15 00:00:00pages
4937-46issue
Pt 24eissn
0021-9533issn
1477-9137journal_volume
115pub_type
杂志文章abstract：:In fibroblasts, platelet-derived growth factor receptor alpha (PDGFRα) is upregulated during growth arrest and compartmentalized to the primary cilium. PDGF-AA mediated activation of the dimerized ciliary receptor produces a phosphorylation cascade through the PI3K-AKT and MEK1/2-ERK1/2 pathways leading to the activat...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.116426
更新日期：2013-02-15 00:00:00
abstract：:Mesenchymal stem cells (MSCs) are among the most promising and suitable stem cell types for vascular tissue engineering. Substantial effort has been made to differentiate MSCs towards vascular cell phenotypes, including endothelial cells and smooth muscle cells (SMCs). The microenvironment of vascular cells not only c...
journal_title：Journal of cell science
pub_type： 杂志文章,评审
doi：10.1242/jcs.167783
更新日期：2015-07-15 00:00:00
abstract：:Cyclins control the activities of cyclin-dependent protein kinases (cdks) and hence play a key role in cell cycle regulation. While B-type cyclins associate with p34cdc2 to trigger entry into mitosis, progression through S phase requires cyclin A, presumably in association with p33cdk2. Vertebrate A- and B-type cyclin...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：1993-10-01 00:00:00
abstract：:A defining feature of malignant tumor progression is cellular penetration through the basement membrane and interstitial matrices that separate various cellular compartments. Accumulating evidence supports the notion that invasive cells employ specialized structures termed invadopodia to breach these structural barrie...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.097956
更新日期：2012-02-01 00:00:00
abstract：:In epithelial cells integrins are segregated on discrete domains of the plasma membrane. Redistribution may also occur during migration or differentiation. However, little is known about the mechanisms that control such redistribution. Receptor internalization may be a part of one such mechanism. We developed a quanti...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：1994-12-01 00:00:00
abstract：:Four developmental stages of Rana pipiens, R. pipiens female X R. catesbeiana female, and R. pipiens female X R. esculenta male embryos were fixed in standard electron microscopic fixatives with or without 1% lanthanum nitrate (LN) added. Embryos fixed without LN were embedded and sectioned at 0-5 micrometer and stain...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：1977-06-01 00:00:00
abstract：:Hexabrachion is a large glycoprotein of the extracellular matrix (ECM) that is prominent in embryogenesis, wound healing and tumorigenesis. Because of the role of extracellular matrix proteins in the regulation of cell differentiation and migration, the interaction of hexabrachion with cells as well as with other comp...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：1990-02-01 00:00:00
abstract：:To investigate the mechanism of chromatin assembly at human centromeres, we isolated cultured human cell lines in which a transfected alpha-satellite (alphoid) YAC was integrated ectopically into the terminal region of host chromosome 16, where it was stably maintained. Centromere activity of the alphoid YAC was suppr...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.00697
更新日期：2003-10-01 00:00:00
abstract：:Injection of the circular plasmid FV1 (derived from type I bovine papilloma virus) into Xenopus eggs before the start of the first cell cycle dramatically increases the efficiency of plasmid replication once eggs are chemically activated. We call this the preloading effect and report kinetic and quantitative character...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：1992-12-01 00:00:00
abstract：:We have recently shown that leukotriene D(4) (LTD(4)) increases cell survival in intestinal epithelial cells. Here we report and explore the complementary finding that LTD(4) also enhances proliferation in these cells. This proliferative response was approximately half of that induced by epidermal growth factor (EGF) ...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：2002-05-01 00:00:00
abstract：:Gene expression of malaria parasites is mediated by the apicomplexan Apetala2 (ApiAP2) transcription factor family. Different ApiAP2s control gene expression at distinct stages in the complex life cycle of the parasite, ensuring timely expression of stage-specific genes. ApiAP2s recognize short cis-regulatory elements...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.210971
更新日期：2018-10-22 00:00:00
abstract：:Integrin alpha1beta1 is a collagen receptor predominantly found in mesenchymal tissues. Mice lacking this receptor are viable. We have previously suggested that alpha1beta1 might participate in the down-regulation of collagen gene expression observed in cells suspended inside collagen gels. The results presented here ...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：1999-02-01 00:00:00
abstract：:Eukaryotic cell cycles are controlled by the activities of cyclin-dependent kinases (cdks). The major cdk in budding yeast, Saccharomyces cerevisiae, is Cdc28p. Activation of Cdc28p requires phosphorylation on threonine 169 and binding to a cyclin. Thr-169 is phosphorylated by the cdk-activating kinase (CAK), Cak1p, w...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：1998-12-18 00:00:00
abstract：:Hematopoietic and vascular endothelial cells constitute the circulatory system and are both generated from the ventral mesoderm. However, the molecules and signaling pathways involved in ventral mesoderm formation and specification remain unclear. We found that zebrafish etv5a was expressed in the ventral mesoderm dur...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.132613
更新日期：2013-12-15 00:00:00
abstract：:Defects in the biogenesis of the spindle pole body (SPB), the yeast centrosome equivalent, can lead to monopolar spindles and mitotic catastrophe. The KASH domain protein Kms2 and the SUN domain protein Sad1 colocalize within the nuclear envelope at the site of SPB attachment during interphase and at the spindle poles...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.154997
更新日期：2014-08-15 00:00:00
abstract：:Myr 3, a member of the myosin-I family from rat, is shown in this study to be localized at adherens-type intercellular junctions in epithelial and nonepithelial tissues. Formation of intercellular junctions and the accompanying recruitment of myr 3 to these junctions involves signaling by the Rho subfamily of small GT...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：1998-09-01 00:00:00
abstract：:The redox status of human spermatozoa was found to have a profound influence on the fertilizing potential of these cells in association with qualitative and quantitative changes in the patterns of tyrosine phosphorylation. In general, oxidizing conditions enhanced tyrosine phosphorylation and stimulated sperm function...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：1995-05-01 00:00:00
abstract：:Development of the nematocyst-taeniocyst complex in the four-zooid stage of a dinoflagellate, Polykrikos kofoidi, was studied by electron microscopy. We observed the following stages: formation of large spherical bodies in islets of cytoplasm containing extensive rough endoplasmic reticulum and Golgi complexes; differ...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：1983-09-01 00:00:00
abstract：:When cultured cerebellar macroneurons develop attached to a laminin-containing substrate or after the acute addition of laminin to the tissue culture medium, there is an acceleration in the rate and extent of axonal elongation. Furthermore, laminin is capable of inducing axonal formation and microtubule stabilization ...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：1996-02-01 00:00:00
abstract：:gamma-Tubulin, a recently discovered member of the tubulin superfamily, is a peri-centriolar component considered to be essential for microtubule nucleation. Mouse oocytes and early embryos lack centrioles until the blastocyst stage. Thus, early mouse embryos allowed us to study the location of gamma-tubulin in animal...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：1993-05-01 00:00:00
abstract：:Cell adhesion molecules of the cadherin family contribute to the regulation of cell shape and fate by mediating strong intercellular adhesion through Ca2+-dependent interaction of their ectodomain and association of their cytoplasmic tail to actin. However, the mechanisms co-ordinating cadherinmediated adhesion with t...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.00857
更新日期：2004-01-15 00:00:00
abstract：:Several lines of evidence indicate that increases in nuclear Ca(2+) have specific biological effects that differ from those of cytosolic Ca(2+), suggesting that they occur independently. The mechanisms involved in controlling nuclear Ca(2+) signaling are both controversial and still poorly understood. Using hypotonic ...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.02446
更新日期：2005-07-15 00:00:00
abstract：:Previous reports have suggested that Cx26 exhibits unique intracellular transport pathways en route to the cell surface compared with other members of the connexin family. To directly examine and compare nascent and steady-state delivery of Cx43 and Cx26 to the plasma membrane and gap junction biogenesis we expressed ...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.02569
更新日期：2005-10-01 00:00:00
abstract：:The events that accompany sporogenesis in the apogamous fern Dryopteris borreri parallel those seen in sexually reproducing ferns. Organelles dedifferentiate and redifferentiate, and form a discrete band across the equator of dyads; nuclear vacuoles and lipid spherosomes appear during prophase, and the major part of t...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：1983-09-01 00:00:00
abstract：:The non-alpha-helical N-terminal domain of intermediate filament proteins plays a key role in filament assembly. Previous studies have identified a nonapeptide motif, SSYRRIFGG, in the non-alpha-helical N-terminal domain of vimentin that is required for assembly. This motif is also found in desmin, peripherin and the ...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：1994-07-01 00:00:00
abstract：:Increases in cytosolic Ca(2+) concentration ([Ca(2+)](c)) mediated by inositol (1,4,5)-trisphosphate [Ins(1,4,5)P(3), hereafter InsP(3)] regulate activities that include division, contraction and cell death. InsP(3)-evoked Ca(2+) release often begins at a single site, then regeneratively propagates through the cell as...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.105163
更新日期：2012-11-15 00:00:00
abstract：:Dynamic assembly and remodeling of actin is critical for many cellular processes during development and stress adaptation. In filamentous fungi and budding yeast, actin cables align in a polarized manner along the mother-to-daughter cell axis, and are essential for the establishment and maintenance of polarity; moreov...
journal_title：Journal of cell science
pub_type： 杂志文章,评审
doi：10.1242/jcs.247916
更新日期：2021-01-08 00:00:00
abstract：:Localization of mRNAs is currently thought to be partially responsible for molecular sorting to specific compartments within the cell. In mammalian cells the best-studied example is the beta-actin mRNA that is localized to the cell processes, and its localization is necessary in migratory responses of cells. It is rea...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：1998-10-01 00:00:00
abstract：:Activation and invasion of the vascular endothelium by Staphylococcus aureus is a major cause of sepsis and endocarditis. For endothelial cell invasion, S. aureus triggers actin polymerization through Cdc42, N-WASp (also known as WASL) and the Arp2/3 complex to assemble a phagocytic cup-like structure. Here, we show t...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.186213
更新日期：2016-08-01 00:00:00
abstract：:Autophagy requires the formation of membrane vesicles, known as autophagosomes, that engulf cellular cargoes and subsequently recruit lysosomal hydrolases for the degradation of their contents. A number of autophagy-related proteins act to mediate the de novo biogenesis of autophagosomes and vesicular trafficking even...
journal_title：Journal of cell science
pub_type： 杂志文章,评审
doi：10.1242/jcs.249227
更新日期：2020-10-30 00:00:00
