When intracellular logistics fails--genetic defects in membrane trafficking.


: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.


J Cell Sci


Journal of cell science


Olkkonen VM,Ikonen E




Has Abstract


2006-12-15 00:00:00




Pt 24










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  • A homologous recombination defect affects replication-fork progression in mammalian cells.

    abstract::Faithful genome transmission requires a network of pathways coordinating DNA replication to DNA repair and recombination. Here, we used molecular combing to measure the impact of homologous recombination (HR) on the velocity of DNA replication forks. We used three hamster cell lines defective in HR either by overexpre...

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    authors: Daboussi F,Courbet S,Benhamou S,Kannouche P,Zdzienicka MZ,Debatisse M,Lopez BS

    更新日期:2008-01-15 00:00:00

  • 3D electron tomography of brain tissue unveils distinct Golgi structures that sequester cytoplasmic contents in neurons.

    abstract::Macroautophagy is morphologically characterized by autophagosome formation. Autophagosomes are double-membraned vesicles that sequester cytoplasmic components for further degradation in the lysosome. Basal autophagy is paramount for intracellular quality control in post-mitotic cells but, surprisingly, the number of a...

    journal_title:Journal of cell science

    pub_type: 杂志文章


    authors: Fernandez-Fernandez MR,Ruiz-Garcia D,Martin-Solana E,Chichon FJ,Carrascosa JL,Fernandez JJ

    更新日期:2017-01-01 00:00:00

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    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


    authors: Delmotte Q,Hamze M,Medina I,Buhler E,Zhang J,Belgacem YH,Porcher C

    更新日期:2020-10-23 00:00:00

  • Perilipin-2 is critical for efficient lipoprotein and hepatitis C virus particle production.

    abstract::In hepatocytes, PLIN2 is the major protein coating lipid droplets (LDs), an organelle the hepatitis C virus (HCV) hijacks for virion morphogenesis. We investigated the consequences of PLIN2 deficiency on LDs and on HCV infection. Knockdown of PLIN2 did not affect LD homeostasis, likely due to compensation by PLIN3, bu...

    journal_title:Journal of cell science

    pub_type: 杂志文章


    authors: Lassen S,Grüttner C,Nguyen-Dinh V,Herker E

    更新日期:2019-01-09 00:00:00

  • Phosphorylation of the retinoic acid receptor RARγ2 is crucial for the neuronal differentiation of mouse embryonic stem cells.

    abstract::Retinoic acid (RA) plays key roles in cell differentiation and growth arrest by activating nuclear RA receptors (RARs) (α, β and γ), which are ligand-dependent transcription factors. RARs are also phosphorylated in response to RA. Here, we investigated the in vivo relevance of the phosphorylation of RARs during RA-ind...

    journal_title:Journal of cell science

    pub_type: 杂志文章


    authors: Al Tanoury Z,Gaouar S,Piskunov A,Ye T,Urban S,Jost B,Keime C,Davidson I,Dierich A,Rochette-Egly C

    更新日期:2014-05-01 00:00:00

  • The ubiquitin-proteasome pathway regulates survivin degradation in a cell cycle-dependent manner.

    abstract::Survivin, a human inhibitor of apoptosis protein (IAP), plays an important role in both cell cycle regulation and inhibition of apoptosis. Survivin is expressed in cells during the G(2)/M phase of the cell cycle, followed by rapid decline of both mRNA and protein levels at the G(1) phase. It has been suggested that ce...

    journal_title:Journal of cell science

    pub_type: 杂志文章


    authors: Zhao J,Tenev T,Martins LM,Downward J,Lemoine NR

    更新日期:2000-12-01 00:00:00

  • Rho-family GTPases: it's not only Rac and Rho (and I like it).

    abstract::The Rho-family proteins make up a major branch of the Ras superfamily of small GTPases. To date, 22 human genes encoding at least 25 proteins have been described. The best known 'classical' members are RhoA, Rac1 and Cdc42. Highly related isoforms of these three proteins have not been studied as intensively, in part b...

    journal_title:Journal of cell science

    pub_type: 杂志文章,评审


    authors: Wennerberg K,Der CJ

    更新日期:2004-03-15 00:00:00

  • Myoferlin regulation by NFAT in muscle injury, regeneration and repair.

    abstract::Ferlin proteins mediate membrane-fusion events in response to Ca(2+). Myoferlin, a member of the ferlin family, is required for normal muscle development, during which it mediates myoblast fusion. We isolated both damaged and intact myofibers from a mouse model of muscular dystrophy using laser-capture microdissection...

    journal_title:Journal of cell science

    pub_type: 杂志文章


    authors: Demonbreun AR,Lapidos KA,Heretis K,Levin S,Dale R,Pytel P,Svensson EC,McNally EM

    更新日期:2010-07-15 00:00:00

  • Negative-feedback regulation of the Wnt pathway by conductin/axin2 involves insensitivity to upstream signalling.

    abstract::Axin and conductin (also known as axin2) are structurally related inhibitors of Wnt/β-catenin signalling that promote degradation of β-catenin. Whereas axin is constitutively expressed, conductin is a Wnt target gene implicated in Wnt negative-feedback regulation. Here, we show that axin and conductin differ in their ...

    journal_title:Journal of cell science

    pub_type: 杂志文章


    authors: Bernkopf DB,Hadjihannas MV,Behrens J

    更新日期:2015-01-01 00:00:00

  • Myosin Va mediates BDNF-induced postendocytic recycling of full-length TrkB and its translocation into dendritic spines.

    abstract::Brain-derived neurotrophic factor (BDNF) plays an important role in neuronal survival, neurite outgrowth and synaptic plasticity by activating the receptor tropomyosin receptor kinase B (TrkB, also known as NTRK2). TrkB has been shown to undergo recycling after BDNF stimulation. We have previously reported that full-l...

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    authors: Sui WH,Huang SH,Wang J,Chen Q,Liu T,Chen ZY

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  • An immunoelectron microscopic study on the distribution of a cell surface-associated adhesive glycoprotein synthesized by rat ascites hepatoma cells.

    abstract::As previously described, a cell surface-associated adhesive factor (AF) was separated from differentiated rat ascites hepatoma AH136B cells (forming cell islands in vivo) and highly purified by chromatography. AF synthesis by the cells was investigated by means of ultrastructural immunoperoxidase cytochemistry. Its sy...

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    authors: Hattori R,Ishimaru Y,Kurano R,Hayashi H

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  • IGF binding protein 3 exerts its ligand-independent action by antagonizing BMP in zebrafish embryos.

    abstract::IGFBP3 is a multi-functional protein that has IGF-dependent and IGF-independent actions in cultured cells. Here we show that the IGF binding domain (IBD), nuclear localization signal (NLS) and transactivation domain (TA) are conserved and functional in zebrafish Igfbp3. The in vivo roles of these domains were investig...

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    authors: Zhong Y,Lu L,Zhou J,Li Y,Liu Y,Clemmons DR,Duan C

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  • Regulation of global translation during the cell cycle.

    abstract::It is generally accepted that global translation varies during the cell cycle and is low during mitosis. However, addressing this issue is challenging because it involves cell synchronization, which evokes stress responses that, in turn, affect translation rates. Here, we have used two approaches to measure global tra...

    journal_title:Journal of cell science

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    authors: Stonyte V,Boye E,Grallert B

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  • FGF2-induced Ras-MAPK signalling maintains lymphatic endothelial cell identity by upregulating endothelial-cell-specific gene expression and suppressing TGFβ signalling through Smad2.

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    authors: Ichise T,Yoshida N,Ichise H

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  • Distinct plasma-membrane PtdIns(4)P and PtdIns(4,5)P2 dynamics in secretagogue-stimulated beta-cells.

    abstract::Phosphoinositides regulate numerous processes in various subcellular compartments. Whereas many stimuli trigger changes in the plasma-membrane PtdIns(4,5)P(2) concentration, little is known about its precursor, PtdIns(4)P, in particular whether there are stimulus-induced alterations independent of those of PtdIns(4,5)...

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    authors: Wuttke A,Sågetorp J,Tengholm A

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    abstract::During cell division, misaligned chromosomes are captured and aligned by motors before their segregation. The CENP-E motor is recruited to polar unattached kinetochores to facilitate chromosome alignment. The spindle checkpoint protein BubR1 (also known as BUB1B) has been reported as a CENP-E interacting partner, but ...

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    authors: Legal T,Hayward D,Gluszek-Kustusz A,Blackburn EA,Spanos C,Rappsilber J,Gruneberg U,Welburn JPI

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  • Lumican is required for neutrophil extravasation following corneal injury and wound healing.

    abstract::An important aspect of wound healing is the recruitment of neutrophils to the site of infection or tissue injury. Lumican, an extracellular matrix component belonging to the small leucine rich proteoglycan (SLRP) family, is one of the major keratan sulfate proteoglycans (KSPGs) within the corneal stroma. Increasing ev...

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    authors: Hayashi Y,Call MK,Chikama T,Liu H,Carlson EC,Sun Y,Pearlman E,Funderburgh JL,Babcock G,Liu CY,Ohashi Y,Kao WW

    更新日期:2010-09-01 00:00:00

  • Cooperative interactions of LPPR family members in membrane localization and alteration of cellular morphology.

    abstract::The lipid phosphate phosphatase-related proteins (LPPRs), also known as plasticity-related genes (PRGs), are classified as a new brain-enriched subclass of the lipid phosphate phosphatase (LPP) superfamily. They induce membrane protrusions, neurite outgrowth or dendritic spine formation in cell lines and primary neuro...

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    authors: Yu P,Agbaegbu C,Malide DA,Wu X,Katagiri Y,Hammer JA,Geller HM

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  • Drosophila Yemanuclein associates with the cohesin and synaptonemal complexes.

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    authors: Meyer RE,Algazeery A,Capri M,Brazier H,Ferry C,Aït-Ahmed O

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    authors: Vogel U,Sandvig K,van Deurs B

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  • Factors involved in the cell density-dependent regulation of nuclear/cytoplasmic distribution of the 11.5-kDa Zn(2+)-binding protein (parathymosin-alpha) in rat hepatocytes.

    abstract::Although the 11.5 kDa Zn(2+)-binding protein (ZnBP, parathymosin-alpha) possesses a functional bipartite nuclear localization signal it was found in most tissues in the cytoplasm. The cultivation of freshly isolated rat hepatocytes for 24 hours under standard conditions was associated with an almost complete transloca...

    journal_title:Journal of cell science

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    authors: Trompeter HI,Schiermeyer A,Blankenburg G,Hennig E,Söling HD

    更新日期:1999-11-01 00:00:00

  • Targeted gene disruption of dynein heavy chain 7 of Tetrahymena thermophila results in altered ciliary waveform and reduced swim speed.

    abstract::Tetrahymena thermophila swims by the coordinated beating of hundreds of cilia that cover its body. It has been proposed that the outer arm dyneins of the ciliary axoneme control beat frequency, whereas the inner arm dyneins control waveform. To test the role of one of these inner arms, dynein heavy chain 7 protein (Dy...

    journal_title:Journal of cell science

    pub_type: 杂志文章


    authors: Wood CR,Hard R,Hennessey TM

    更新日期:2007-09-01 00:00:00

  • ERBIN is a new SARA-interacting protein: competition between SARA and SMAD2 and SMAD3 for binding to ERBIN.

    abstract::SARA, an early endosomal protein, plays a key role in TGFβ signalling, as it presents SMAD2 and SMAD3 for phosphorylation by the activated TGFβ receptors. Here, we show that ERBIN is a new SARA-interacting protein that can be recruited by SARA to early endosomes. ERBIN was recently shown to bind and segregate phosphor...

    journal_title:Journal of cell science

    pub_type: 杂志文章


    authors: Sflomos G,Kostaras E,Panopoulou E,Pappas N,Kyrkou A,Politou AS,Fotsis T,Murphy C

    更新日期:2011-10-01 00:00:00

  • The mechanism of Fc-mediated interaction of eosinophils with immobilized immune complexes. II. Identification of two membrane proteins, modified by the interaction.

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    journal_title:Journal of cell science

    pub_type: 杂志文章


    authors: Thorne KJ,Free J,Franks D,Oliver RC

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  • The relaxed crossbridge pattern in isolated rabbit psoas muscle thick filaments.

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    journal_title:Journal of cell science

    pub_type: 杂志文章


    authors: Kensler RW,Stewart M

    更新日期:1993-07-01 00:00:00

  • Downregulation of Dickkopf-3 disrupts prostate acinar morphogenesis through TGF-β/Smad signalling.

    abstract::Loss of tissue organization is a hallmark of the early stages of cancer, and there is considerable interest in proteins that maintain normal tissue architecture. Prostate epithelial cells cultured in Matrigel form three-dimensional acini that mimic aspects of prostate gland development. The organization of these struc...

    journal_title:Journal of cell science

    pub_type: 杂志文章


    authors: Romero D,Kawano Y,Bengoa N,Walker MM,Maltry N,Niehrs C,Waxman J,Kypta R

    更新日期:2013-04-15 00:00:00

  • Mechanisms of Cx43 and Cx26 transport to the plasma membrane and gap junction regeneration.

    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


    authors: Thomas T,Jordan K,Simek J,Shao Q,Jedeszko C,Walton P,Laird DW

    更新日期:2005-10-01 00:00:00

  • Active RNA polymerases are localized within discrete transcription "factories' in human nuclei.

    abstract::Nascent transcripts in permeabilized HeLa cells were elongated by approximately 30-2,000 nucleotides in Br-UTP or biotin-14-CTP, before incorporation sites were immunolabelled either pre- or post-embedding, and visualized by light or electron microscopy. Analogues were concentrated in approximately 2,100 (range 2,000-...

    journal_title:Journal of cell science

    pub_type: 杂志文章


    authors: Iborra FJ,Pombo A,Jackson DA,Cook PR

    更新日期:1996-06-01 00:00:00

  • Novel function of beta-arrestin2 in the nucleus of mature spermatozoa.

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    pub_type: 杂志文章


    authors: Neuhaus EM,Mashukova A,Barbour J,Wolters D,Hatt H

    更新日期:2006-08-01 00:00:00