Results 121 to 130 of about 51,687 (291)

Are proteostasis defects responsible for amyotrophic lateral sclerosis?

, 2020
The pathological hallmark of Amyotrophic lateral sclerosis (ALS) is the presence of ubiquitylated protein inclusions in affected motor neurons, which is indicative of disruption in the mechanisms that maintain proteome homeostasis (proteostasis) in these
Isabella Lambert-Smith (20166486)
core   +1 more source

Targeting proteostasis for cancer therapy: current advances, challenges, and future perspectives

Molecular Cancer
The proteostasis network plays a pivotal role in enabling tumor cells to maintain protein homeostasis, mitigate proteotoxic stress, and promote tumor progression and resistance to therapeutic interventions.
Chenliang Zhang, Jielang Li, Qiulin Tang, Liping Li, Dan Cao   +4 more
doaj   +1 more source

Single‐Nucleus RNA Sequencing Identifies CREM as a Brake on Myofiber Hypertrophy in Chickens

Advanced Science, EarlyView.
Single‐nucleus RNA sequencing on 91 144 nuclei from postnatal chicken pectoralis major between fast‐growing broilers (FG) and slow‐growing layers (SG) identifies the transcriptional factor CREM as a novel brake of myofiber hypertrophy. Mechanistically, functional validation experiments confirm that CREM activates the promoter of JUN and CREM deletion ...
Shuang Gu, Xiyu Zhao, Zheyi Jiang, Chaoliang Wen, Chaoyi Wang, Qiulian Wang, Qiang Huang, Fangren Lan, Shenghui Wu, Junying Li, Congjiao Sun, Huadong Yin, Ning Yang   +12 more
wiley   +1 more source

Integrating Genetic Modifier Genotype With Serum Proteomics in Duchenne Muscular Dystrophy Clinical Trials Links LTBP4 Genetic Modifier to IL‐23/CD93 Pathways in Muscle

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic modifiers of Duchenne muscular dystrophy (DMD) that alter disease severity or response to therapy have been reported using natural history or registry data sets of older corticosteroid‐treated patients. We tested associations of genetic modifiers on motor function outcomes in young (4 to < 7 years) steroid naïve clinical trial ...
Utkarsh J. Dang, Yuan Fang, Daniele Sabbatini, Elena Pegoraro, Luca Bello, Paula R. Clemens, Michela Guglieri, John van den Anker, Jesse Damsker, Laura Hagerty, Yetrib Hathout, Michael Ziemba, Lauren Morgenroth, Surajit Bhattacharya, Kanneboyina Nagaraju, Jyoti K. Jaiswal, Eric P. Hoffman   +16 more
wiley   +1 more source

Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell, Robert Geraghty, Juliana E. Arcila‐Galvis, Praveen Dhondurao‐Sudhindar, Sergio Foullerat Cañada, Fulvio D'Abrusco, Bosanka Jocic‐Jakubi, Miguel Barroso‐Gil, Valentina Serpieri, Thomas M. Kitzler, Kate E. Chandler, Eleanor G. Seaby, Gabrielle Wheway, Jennifer C. Dempsey, Dan Doherty, Enza M. Valente, John A. Sayer   +16 more
wiley   +1 more source

UBE3A Dosage Imbalance as a Molecular Framework Linking Angelman Syndrome and Dup15q‐Associated Autism Phenotypes

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT UBE3A is a dosage‐sensitive HECT E3 ubiquitin ligase whose neuronal expression is shaped by genomic imprinting at the 15q11.2‐q13 locus. Opposite directions of UBE3A dosage imbalance contribute to distinct neurodevelopmental phenotypes: loss of maternal UBE3A underlies Angelman syndrome, whereas maternally derived 15q11.2‐q13 copy‐number gains,
Ruslan Kurmashev
wiley   +1 more source

Animal models for investigating post‐stroke cognitive impairment: A neurovascular trafficking perspective

Animal Models and Experimental Medicine, EarlyView.
Animal models enable mechanistic testing of how ischemic injury disrupts neurovascular trafficking and drives cognitive vulnerability after stroke. Complementary models capture distinct vascular, cellular, white matter, and cognitive features of PSCI.
Pratchaya Kaewkaen
wiley   +1 more source

Aging as an Event of Proteostasis Collapse

, 2011
Aging cells accumulate damaged and misfolded proteins through a functional decline in their protein homeostasis (proteostasis) machinery, leading to reduced cellular viability and the development of protein misfolding diseases such as Alzheimer's and ...
Dillin, Andrew, Taylor, Rebecca C., A. Dillin, R. C. Taylor   +3 more
core   +1 more source

From cancer therapy to cardiac safety: the role of proteostasis in drug-induced cardiotoxicity

Frontiers in Pharmacology
Drug-induced cardiotoxicity (DICT) poses a significant challenge in the prognosis of cancer patients, particularly with the use of antineoplastic agents like anthracyclines and targeted therapies such as trastuzumab. This review delves into the intricate
Xingyu Qian, Mengdong Yao, Jingyu Xu, Nianguo Dong, Si Chen   +4 more
doaj   +1 more source

Heat stress in spermatogenesis: a redox‐dependent decision network linking ROS, autophagy, and regulated cell death

Biological Reviews, EarlyView.
ABSTRACT Heat stress (HS) is an increasing threat to male reproductive health, disrupting spermatogenesis through complex and interdependent cellular responses within the seminiferous epithelium. Although excessive reactive oxygen species (ROS) production is a hallmark of HS, ROS also act as central regulators of cell fate decisions beyond their role ...
Ribrio Ivan Tavares Pereira Batista
wiley   +1 more source