Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease
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Cites background from "Transcription factor EB (TFEB) is a..."
...…have been shown to be beneficial in reducing substrate accumulation; such overexpression also improved overall autophagy and lysosomal function, and ameliorated the severity of cellular and tissue phenotypes (Medina et al., 2011; Rega et al., 2016; Song et al., 2013; Spampanato et al., 2013)....
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...Overexpression of TFEB in cellular and mouse models of several LSDs, including multiple sulfatase deficiency, mucopolysaccharidosis type IIIA, Batten disease, Pompe disease, Gaucher disease, Tay–Sachs disease and cystinosis, have been shown to be beneficial in reducing substrate accumulation; such overexpression also improved overall autophagy and lysosomal function, and ameliorated the severity of cellular and tissue phenotypes (Medina et al., 2011; Rega et al., 2016; Song et al., 2013; Spampanato et al., 2013)....
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References
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"Transcription factor EB (TFEB) is a..." refers background in this paper
...…in PD muscle fibres – autophagic accumulation (Raben et al, 2012) – was not reproduced in PD myotubes, as demonstrated by immunostaining and western analysis with LC3 [a highly specific autophagosomal marker (Kabeya et al, 2000)] (shown for western blot in Supporting Information Fig S1C)....
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"Transcription factor EB (TFEB) is a..." refers background in this paper
...Furthermore, since TFEB has been shown to promote lysosomal– autophagosomal fusion (Settembre & Ballabio, 2011; Settembre et al, 2011), this approach, unlike most current efforts, has the potential to prevent or resolve autophagic build-up....
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...It has been shown that overexpression of TFEB, a master regulator of lysosomal biogenesis and autophagy, leads to the generation of new lysosomes and increased numbers of autophagosomes in a variety of cell types (Sardiello et al, 2009; Settembre & Ballabio, 2011; Settembre et al, 2011)....
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...693 694 that the amount of endogenous TFEB may not be sufficient to support lysosomal clearance; alternatively, another kinase – MAPK (ERK1/2) kinase – may be involved in the process of TFEB activation (Settembre et al, 2011)....
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...However, it was not until the discovery of TFEB that the stimulation of lysosomal exocytosis and biogenesis became a therapeutic option for LSDs and other disorders with accumulation of abnormal proteins (Medina et al, 2011; Sardiello et al, 2009; Settembre & Ballabio, 2011; Settembre et al, 2011)....
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...Two kinases, mTORC1 and ERK, have been implicated in TFEB regulation in different cells (Martina et al, 2012; Roczniak-Ferguson et al, 2012; Settembre et al, 2011, 2012)....
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"Transcription factor EB (TFEB) is a..." refers background or methods in this paper
...Plasmids: plasmid containing the full-length 3xFlag-tagged human TFEB (referred to as Flag-TFEB) was described previously (Sardiello et al, 2009); plasmid containing the full-length rat LAMP1 (mCherryLAMP1) was obtained from Dr. Kristien Zaal (Light Imaging Section, Office of Science & Technology,…...
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...It has been shown that overexpression of TFEB, a master regulator of lysosomal biogenesis and autophagy, leads to the generation of new lysosomes and increased numbers of autophagosomes in a variety of cell types (Sardiello et al, 2009; Settembre & Ballabio, 2011; Settembre et al, 2011)....
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...However, it was not until the discovery of TFEB that the stimulation of lysosomal exocytosis and biogenesis became a therapeutic option for LSDs and other disorders with accumulation of abnormal proteins (Medina et al, 2011; Sardiello et al, 2009; Settembre & Ballabio, 2011; Settembre et al, 2011)....
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...In fact, levels of LAMP1 appear to increase in TFEBmt-treated cells, consistent with the role of TFEB in stimulating lysosomal biogenesis (Sardiello et al, 2009; Settembre & Ballabio, 2011)....
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1,782 citations
"Transcription factor EB (TFEB) is a..." refers background in this paper
...Defects in autophagy, a major lysosome-dependent degradative system (Yang & Klionsky, 2010)], significantly contribute to the pathophysiology of several lysosomal storage diseases (Cao et al, 2006; Cox & Cachon-Gonzalez, 2012; Fukuda et al, 2006a,b; Liao et al, 2007; Lieberman et al, 2012;…...
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1,540 citations
"Transcription factor EB (TFEB) is a..." refers background in this paper
...Next, we attempted to activate endogenous TFEB by pharmacologically targeting mTORC1, which has been shown to negatively regulate TFEB (Martina et al, 2012; RoczniakFerguson et al, 2012; Settembre et al, 2012)....
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...In addition, we tested the effect of constitutively active mutant TFEB (S211A; TFEBmt) (Martina et al, 2012; RoczniakFerguson et al, 2012; Settembre et al, 2012) in PD myotubes....
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...Two kinases, mTORC1 and ERK, have been implicated in TFEB regulation in different cells (Martina et al, 2012; Roczniak-Ferguson et al, 2012; Settembre et al, 2011, 2012)....
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