Abstract：
:Patients with myotonic dystrophy type 1 exhibit a diversity of symptoms that affect many different organs. Among these are cognitive dysfunctions, the origin of which has remained elusive, partly because of the difficulty in accessing neural cells. Here, we have taken advantage of pluripotent stem cell lines derived from embryos identified during a pre-implantation genetic diagnosis for mutant-gene carriers, to produce early neuronal cells. Functional characterization of these cells revealed reduced proliferative capacity and increased autophagy linked to mTOR signaling pathway alterations. Interestingly, loss of function of MBNL1, an RNA-binding protein whose function is defective in DM1 patients, resulted in alteration of mTOR signaling, whereas gain-of-function experiments rescued the phenotype. Collectively, these results provide a mechanism by which DM1 mutation might affect a major signaling pathway and highlight the pertinence of using pluripotent stem cells to study neuronal defects.
journal_name
J Cell Scijournal_title
Journal of cell scienceauthors
Denis JA,Gauthier M,Rachdi L,Aubert S,Giraud-Triboult K,Poydenot P,Benchoua A,Champon B,Maury Y,Baldeschi C,Scharfmann R,Piétu G,Peschanski M,Martinat Cdoi
10.1242/jcs.116285subject
Has Abstractpub_date
2013-04-15 00:00:00pages
1763-72issue
Pt 8eissn
0021-9533issn
1477-9137pii
jcs.116285journal_volume
126pub_type
杂志文章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：:Members of the PKC superfamily have been implicated in various migratory models and in particular in spatially restricted processes. However, defining the precise local events that underlie the PKC-dependent processes is constrained by the unspecific nature of interventions. Here we address this problem in relation to...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.062299
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abstract：:The establishment of a tissue-culture system for epithelial cells derived from human foetal pancreas has recently been reported. Further analyses have now been made on these cells in vitro, together with parallel investigation of the distribution of different cell types within the intact foetal pancreas. Results suppo...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：1988-05-01 00:00:00
abstract：:Nedd1 is a new member of the gamma-tubulin ring complex (gammaTuRC) and targets the gammaTuRC to the centrosomes for microtubule nucleation and spindle assembly in mitosis. Although its role is known, its functional regulation mechanism remains unclear. Here we report that the function of Nedd1 is regulated by Cdk1 an...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.042747
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abstract：:Endothelial cells are known to undergo transitions in cell shape during long-term culture. Thus, the assumption that the separate phenotypes of microvascular endothelial cells (MVEC) recently isolated from bovine corpus luteum represent constitutively different cell strains cannot automatically be made. For this reaso...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：1993-11-01 00:00:00
abstract：:Skeletal and heart muscle-specific variant of the α subunit of nascent polypeptide associated complex (skNAC; encoded by NACA) is exclusively found in striated muscle cells. Its function, however, is largely unknown. Previous reports have demonstrated that skNAC binds to m-Bop/Smyd1, a multi-functional protein that re...
journal_title：Journal of cell science
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journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.050955
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abstract：:Filamin (actin-binding protein) is a cytoskeletal protein that crosslinks actin filaments in vitro. Filamin is thought to be involved in a variety of cell types in stabilizing actin networks, and in platelets it may play a role in linking actin to the membrane. In this report, we describe a monoclonal antibody (Mab 6E...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：
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journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：1990-07-01 00:00:00
abstract：:A new aspect of research into the pathogenesis of cystic fibrosis (CF) is a genetics-based search for ;modifier genes' that may affect the severity of CF lung disease. Using an alternative, cell biological approach, we show that ITPK1 should be considered a modifier gene. ITPK1 synthesizes an intracellular signal, ino...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.02836
更新日期：2006-04-01 00:00:00
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journal_title：Journal of cell science
pub_type： 杂志文章,评审
doi：
更新日期：2000-08-01 00:00:00
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journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：2001-05-01 00:00:00
abstract：:The scaffold attachment factor SAFB1 and its recently discovered homologue SAFB2 might provide an important link between pre-mRNA splicing, intracellular signalling and transcription. Using novel mono-specific antisera, we found endogenous SAFB2 protein has a different spatial distribution from SAFB1 within the nucleu...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.03344
更新日期：2007-01-15 00:00:00
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journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：1979-02-01 00:00:00
abstract：:In many physiological contexts, intracellular reduction-oxidation (redox) conditions and the unfolded protein response (UPR) are important for the control of cell life and death decisions. UPR is triggered by the disruption of endoplasmic reticulum (ER) homeostasis, also known as ER stress. Depending on the duration a...
journal_title：Journal of cell science
pub_type： 杂志文章,评审
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更新日期：2014-09-01 00:00:00
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journal_title：Journal of cell science
pub_type： 杂志文章,评审
doi：
更新日期：2002-01-01 00:00:00
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journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.131045
更新日期：2014-04-15 00:00:00
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journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.00918
更新日期：2003-12-15 00:00:00
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journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.02349
更新日期：2005-05-15 00:00:00
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journal_title：Journal of cell science
pub_type： 杂志文章
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更新日期：2009-05-15 00:00:00
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journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：1999-10-01 00:00:00
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journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：1990-05-01 00:00:00
abstract：:The conventional kinesin motor transports many different cargos to specific locations in neurons. How cargos regulate motor function remains unclear. Here we focus on KIF5, the heavy chain of conventional kinesin, and report that the Kv3 (Shaw) voltage-gated K(+) channel, the only known tetrameric KIF5-binding protein...
journal_title：Journal of cell science
pub_type： 杂志文章
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journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：1993-02-01 00:00:00
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journal_title：Journal of cell science
pub_type： 杂志文章
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journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.110569
更新日期：2012-12-01 00:00:00
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journal_title：Journal of cell science
pub_type： 杂志文章,评审
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更新日期：2019-07-30 00:00:00
abstract：:When cultured human lymphocytes (IM-9) are exposed to 10(-6) M procine insulin for 6 h, washed, and incubated with 125I-insulin, the ability of the cell to bind the labelled hormone is reduced by a mean of 78%. Under these experimental conditions that induce insulin-receptor loss in this cell there is a mean 95% incre...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：1979-10-01 00:00:00
abstract：:The intracellular protozoan parasite Toxoplasma gondii, like all members of the phylum Apicomplexa, is known to possess many organelles: in addition to mitochondria and the compartments of the secretory pathway, there is a reduced chloroplast (the apicoplast) and the phylum-specific components of the apical complex: d...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：2000-07-01 00:00:00
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journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：1998-11-01 00:00:00
