scholarly journals Lysosome positioning and mTOR activity in Lowe syndrome

EMBO Reports ◽  
2021 ◽  
Author(s):  
Cansu Karabiyik ◽  
Sung Min Son ◽  
David C Rubinsztein
Keyword(s):  
Lowe Syndrome ◽  
Mtor Activity

Lowe syndrome in a 20-year-old male: the clinical course and genetic analysis in OCRL1

2011 ◽  
Vol 24 (2) ◽  
pp. 211-217
Author(s):  
Yuichirou Tsuji ◽  
Takahiro Murata ◽  
Hiroshi Watanabe ◽  
Toshikazu Shinbo ◽  
Sei Ishiguro ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Clinical Course ◽  
Lowe Syndrome

Role of PRAS40 in Akt and mTOR signaling in health and disease

2012 ◽  
Vol 302 (12) ◽  
pp. E1453-E1460 ◽  
Author(s):  
Claudia Wiza ◽  
Emmani B. M. Nascimento ◽  
D. Margriet Ouwens
Keyword(s):  
Mammalian Target Of Rapamycin ◽  
Mtor Signaling ◽  
Cellular Growth ◽  
S6 Kinase ◽  
Binding Partners ◽  
Health And Disease ◽  
Mtor Complex 1 ◽  
Mtor Activity

The proline-rich Akt substrate of 40 kDa (PRAS40) acts at the intersection of the Akt- and mammalian target of rapamycin (mTOR)-mediated signaling pathways. The protein kinase mTOR is the catalytic subunit of two distinct signaling complexes, mTOR complex 1 (mTORC1) and mTORC2, that link energy and nutrients to the regulation of cellular growth and energy metabolism. Activation of mTOR in response to nutrients and growth factors results in the phosphorylation of numerous substrates, including the phosphorylations of S6 kinase by mTORC1 and Akt by mTORC2. Alterations in Akt and mTOR activity have been linked to the progression of multiple diseases such as cancer and type 2 diabetes. Although PRAS40 was first reported as substrate for Akt, investigations toward mTOR-binding partners subsequently identified PRAS40 as both component and substrate of mTORC1. Phosphorylation of PRAS40 by Akt and by mTORC1 itself results in dissociation of PRAS40 from mTORC1 and may relieve an inhibitory constraint on mTORC1 activity. Adding to the complexity is that gene silencing studies indicate that PRAS40 is also necessary for the activity of the mTORC1 complex. This review summarizes the regulation and potential function(s) of PRAS40 in the complex Akt- and mTOR-signaling network in health and disease.

scholarly journals Status of mTOR activity may phenotypically differentiate senescence and quiescence

2012 ◽  
Vol 33 (6) ◽  
pp. 597-604 ◽  
Author(s):  
Sohee Cho ◽  
Eun Seong Hwang
Keyword(s):  
Mtor Activity

scholarly journals A Role of the Lowe Syndrome Protein OCRL in Early Steps of the Endocytic Pathway

2007 ◽  
Vol 13 (3) ◽  
pp. 377-390 ◽  
Author(s):  
Kai S. Erdmann ◽  
Yuxin Mao ◽  
Heather J. McCrea ◽  
Roberto Zoncu ◽  
Sangyoon Lee ◽  
...  
Keyword(s):  
Endocytic Pathway ◽  
Lowe Syndrome ◽  
Syndrome Protein

scholarly journals Aberrant PTEN expression in response to progesterone reduces endometriotic stromal cell apoptosis

Reproduction ◽  
2017 ◽  
Vol 153 (1) ◽  
pp. 11-21 ◽  
Author(s):  
JongYeob Choi ◽  
MinWha Jo ◽  
EunYoung Lee ◽  
Seongsoo Hwang ◽  
DooSeok Choi
Keyword(s):  
Stromal Cells ◽  
Human Cancer ◽  
Negative Regulator ◽  
Pten Expression ◽  
Endometrial Cell ◽  
Endometrial Stromal Cells ◽  
Human Cancer Cells ◽  
Subsequent Decrease ◽  
Autophagy Induction ◽  
Mtor Activity

In some human cancer cells, PTEN (phosphatase and tensin homolog deleted on chromosome 10) is known to regulate autophagy induction positively through the inhibition of PI3K/AKT pathway, leading to the activation of mTOR, a major negative regulator of autophagy. Recent studies reported that PTEN expression is abnormally decreased in endometriotic lesions. In endometriosis, abnormal PTEN expression may contribute to the alteration of endometrial cell autophagy, which may affect apoptosis because endometrial cell autophagy is directly involved in the regulation of apoptosis. To test this hypothesis, we evaluated the involvement of PTEN in the regulation of autophagy induction in human normal endometrial stromal cells (NESCs). In addition, we sought to determine whether aberrant PTEN expression in endometriotic cyst stromal cells (ECSCs) is associated with autophagy dysregulation, and a subsequent decrease in apoptosis. Our results show that PTEN expression was enhanced by progesterone treatment in NESCs. Subsequently, autophagy and apoptosis induction increased through the inhibition of AKT and mTOR activity. This progesterone-induced increase in apoptosis was reversed by the inhibition of autophagy induction using either mifepristone (progesterone receptor modulator) or PTEN inhibitor. In contrast, progesterone had no significant effects on PTEN expression, AKT, mTOR activity, autophagy or apoptosis in ECSCs. Furthermore, in contrast to normal eutopic endometrium, endometriotic tissues have constant PTEN expression, autophagy and apoptosis throughout the menstrual cycle. In conclusion, our results suggest abnormal PTEN expression in response to progesterone was observed in ECSCs, which led to the dysregulation of autophagy induction via AKT/mTOR signalling and a subsequent decrease in apoptosis.

scholarly journals The Cellular and Physiological Functions of the Lowe Syndrome Protein OCRL1

Traffic ◽  
2014 ◽  
Vol 15 (5) ◽  
pp. 471-487 ◽  
Author(s):  
Zenobia B. Mehta ◽  
Grzegorz Pietka ◽  
Martin Lowe
Keyword(s):  
Lowe Syndrome ◽  
Physiological Functions ◽  
Syndrome Protein

Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family

2011 ◽  
Vol 129 (5) ◽  
pp. 513-519 ◽  
Author(s):  
Markus Draaken ◽  
Carmen A. Giesen ◽  
Anne L. Kesselheim ◽  
Ronald Jabs ◽  
Stefan Aretz ◽  
...  
Keyword(s):  
De Novo ◽  
Lowe Syndrome ◽  
Nucleotide Substitutions
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