Results 51 to 60 of about 31,581 (280)

The use of Ambroxol for the treatment of Gaucher disease: A systematic review

eJHaem
Gaucher disease (GD) is a heterogeneous condition requiring tailored treatment approaches. The aim of this systematic review was to synthesise and evaluate current evidence pertaining to the use of Ambroxol for the treatment of GD.
Diego Agustín Abelleyra Lastoria, Simranjeet Grewal, Derralynn Hughes   +2 more
doaj   +1 more source

Unraveling the Molecular Mechanisms Underlying Spontaneous Multipolar Mitosis Through CIN‐seq

Advanced Science, EarlyView.
Multipolar mitosis, a hallmark of chromosomal instability (CIN), drives tumor heterogeneity but is challenging to study in live cells. Using CIN‐seq, a single‐cell multiomics method, we profiled rare CIN events and identified mechanisms associated with viable multipolar mitosis, including PTEN attenuation, Rho GTPase‐driven cytokinesis failure, and ...
Pin‐Rui Su, Ting‐Chun Chou, Maria Teresa López‐Cascales, Junfeng Huang, Tsai‐Ying Chen, Sjoukje van Wieren, Chan Li, Cecile Beerens, Li You, Jelle Storteboom, Miao‐Ping Chien   +10 more
wiley   +1 more source

Lyso-IP: Uncovering Pathogenic Mechanisms of Lysosomal Dysfunction

Biomolecules, 2022
Lysosomes are ubiquitous membrane-bound organelles found in all eukaryotic cells. Outside of their well-known degradative function, lysosomes are integral in maintaining cellular homeostasis. Growing evidence has shown that lysosomal dysfunction plays an
Chase Chen, Ellen Sidransky, Yu Chen
doaj   +1 more source

G3BP1 Succinylation at K413 is Critical for Cardiac Function by Modulating PI3K‐AKT‐mTOR Signal Axis

Advanced Science, EarlyView.
Schematic illustrating the impact of G3BP1 succinylation at K413 on cardiac function. In the healthy human heart, G3BP1 succinylation maintains homeostatic mTOR signaling. In patients with dilated cardiomyopathy (DCM) and heart failure (HF), G3BP1 de‐succinylation induces RagA expression and disrupts the binding of the TSC1/2 complex, leading to the ...
Yuan Zhang, Cancan Yao, Yan Chen, Ke Cai, Zhouping Lu, Boxuan Wu, Kun Yu, Yan Shi, Jianyuan Zhao, Xiangyu Zhou   +9 more
wiley   +1 more source

Treating lysosomal storage disorders: current practice and future prospects.

, 2009
There are over 40 human disease states that are caused by defects in various aspects of lysosomal function. Over the past two decades there has been dramatic progress in the development and evaluation of therapies for lysosomal storage disorders, several
Platt, Frances, Platt, Frances M., Lachmann, Robin H., Lachmann, RH, Platt, FM   +4 more
core   +1 more source

Mitochondrial Dysfunction and Neurodegeneration in Lysosomal Storage Disorders [PDF]

, 2017
Lysosomal storage disorders (LSDs) are rare inherited debilitating and often fatal disorders. Caused by mutations affecting lysosomal proteins, LSDs are characterized by the accumulation of undegraded material in lysosomes and by lysosomal dysfunction ...
Plotegher, Nicoletta, Plotegher, N, Duchen, MR, Duchen, Michael R   +3 more
core   +1 more source

Cuproptosis and Mitophagy Mediated by the THUMPD1/IGF2R‐Dependent Suppression of AKT and Activation of AMPK Signaling Suppress Lung Adenocarcinoma Progression

Advanced Science, EarlyView.
THUMPD1 drives a tumor‐suppressive signaling cascade in lung adenocarcinoma by promoting IGF2R expression. IGF2R associates with PPP2R1A to suppress AKT and activate AMPK, leading to SLC31A1 upregulation and copper accumulation. Elevated copper disrupts mitochondrial metabolism and induces excessive mitophagy, thereby restraining tumor growth and ...
Kai Wu, Bo Qin, Zhuoyu Gu, Weizheng Ding, Xiaoming Chen, Kaishang Zhang, Yujin Qiao, Shuang Yuan, Song Zhao, Xiangnan Li, Peng Zhang   +10 more
wiley   +1 more source

Dose‐Dependent Reprogramming of Chromatin Accessibility by SOX4 Drives the Transcriptional Response to Iron Overload

Advanced Science, EarlyView.
This study demonstrates that iron overload triggers widespread chromatin compaction and transcriptional repression in human granulosa cells, recapitulating features of endometriosis. The epigenetic reprogramming is orchestrated by a TFEB‐SOX4‐SWI/SNF axis, with SOX4 acting as a central, dosage‐sensitive regulator.
Feifei Li, Yaoqiu Wu, Guangyu Yang, Jingyi Lai, Xiaoyue Sun, Liyan Wang, Xiaoli Li, Jing Zhang, Qingxue Zhang, Hui Chen, Haiyan Lin, Bingxiang Xu, Junfeng Zhang, Hailong Wang, Anming Meng, Chunwei Cao   +15 more
wiley   +1 more source

Safety analysis of self-administered enzyme replacement therapy using data from the Fabry Outcome and Gaucher Outcome Surveys

Orphanet Journal of Rare Diseases
Background Fabry disease and Gaucher disease are rare genetic disorders characterized by defective degradation of glycosphingolipids caused by enzymatic deficiencies in α–galactosidase A and β–glucocerebrosidase, respectively, and often require life-long
Shoshana Revel-Vilk, Uma Ramaswami, Guillem Pintos-Morell, Derralynn Hughes, Kathy Nicholls, Ricardo Reisin, Roberto Giugliani, Ozlem Goker-Alpan, Majdolen Istaiti, Aidan Gill, Maurizio Scarpa, Jaco Botha   +11 more
doaj   +1 more source

Phenotype Correction in Murine Mucopolysaccharidosis Type VII by Transplantation of Human Amniotic Epithelial Cells after Adenovirus-Mediated Gene Transfer

Cell Transplantation, 2000
Cell therapy with human amniotic epithelial (HAE) cells was developed as an alternative method for enzyme replacement therapy in congenital lysosomal storage disorders, but only limited therapeutic efficacy has been reported.
Motomichi Kosuga, Satori Takahashi, Kyoko Sasaki, Shin Enosawa, Xiao-Kang Li, Sanae Okuyama, Masayuki Fujino, Seiichi Suzuki, Masao Yamada, Nobutake Matsuo, Norio Sakuragawa, Torayuki Okuyama   +11 more
doaj   +1 more source