Results 91 to 100 of about 33,228 (280)

Promoting Autophagy Mitigates Stress‐Induced Remodeling in Patient iPSC‐CMs with the Phospholamban R9C Mutation

Advanced Science, EarlyView.
The Phospholamban (PLN) R9C mutation reduces SERCA2a binding, increasing calcium recycling and baseline contractility. However, the excess of free PLN promotes pentamer formation, limiting phosphorylation and blunting β‐adrenergic signaling. Under cardiac stress, enhanced functional demands overwhelm proteostasis in PLN R9C cells, leading to misfolded ...
Qi Yu, Yawei Shen, Robert J. Barndt, Karim Sallam, Ying Tang, Cameron E. Brown, Xiao Li, Stephen Y. Chan, Joseph C. Wu, Qing Liu, Haodi Wu   +10 more
wiley   +1 more source

Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests

BMC Medical Genetics, 2013
Background Tandem mass spectrometry (MS/MS) analysis is a powerful tool for newborn screening, and many rare inborn errors of metabolism are currently screened using MS/MS.
Wang Li-Yun, Chen Nien-I, Chen Pin-Wen, Chiang Shu-Chuan, Hwu Wuh-Liang, Lee Ni-Chung, Chien Yin-Hsiu   +6 more
doaj   +1 more source

Effective dosing of L-carnitine in the secondary prevention of cardiovascular disease: a systematic review and meta-analysis [PDF]

, 2014
BACKGROUND: L-carnitine supplementation has been associated with a significant reduction in all-cause mortality, ventricular arrhythmia, and angina in the setting of acute myocardial infarction (MI).
Hui Li, Ruiping Shang, Zhiqi Sun
core   +2 more sources

Multi‐Omics Reveal the Dysregulated Gut‐Joint Axis in Knee Synovitis: Data from Two Osteoarthritis Studies in China

Advanced Science, EarlyView.
The “gut‐joint axis” in knee synovitis is uncovered. Integrated multi‐omics studies are conducted in two independent osteoarthritis cohorts. Synovitis is characterized an increased F/B ratio, as well as alterations of 3‐HIA, geranic acid, and TWEAK. Upregulated TWEAK receptor is found in high‐grade synovitis, and inversely correlated with lower TWEAK ...
Xiaoshuai Wang, Yi Liu, Ziying Sun, Jia Li, Zhihao Lu, Jiayuan Huang, Shixian Hu, Peihua Cao, Xiaolong Cao, Shangru Li, Jianzhao Ruan, Jinhui Liu, Jingyu Xie, Haitao Sun, Tianyu Chen, Shengfa Li, Zhaohua Zhu, Zhibo Wen, Rocky S. Tuan, David John Hunter, Zhong Alan Li, Dongquan Shi, Changhai Ding   +22 more
wiley   +1 more source

Glial β-Oxidation regulates drosophila energy metabolism [PDF]

, 2015
The brain's impotence to utilize long-chain fatty acids as fuel, one of the dogmas in neuroscience, is surprising, since the nervous system is the tissue most energy consuming and most vulnerable to a lack of energy.
Bastianen, Jarl, Dotti, Carlos G., Gärtner, Annette, Laranjeira, Antonio, Shulz, Joachim G., Van Huffel, Leen, Van Veldhoven, Paul P., Vilain, Sven   +7 more
core   +5 more sources

Neonatal cardiomyopathy and lactic acidosis responsive to thiamine [PDF]

, 1991
A congestive cardiomyopathy was diagnosed in a girl at the age of 4 weeks. In the weeks following she developed general muscle hypotonia and plasma lactate increased to 8.5 mmol/L.
Abeling, N.G.G.M. (Nicolaas), Bakker, H.D. (Henk), Gennip, A.H. (A.) van, Lam, J., Luyt-Houwen, I.E.M. (I. E M), Scholte, H.R. (Hans)   +5 more
core   +2 more sources

Targeting Endothelial KDM5A to Attenuate Aging and Ameliorate Age‐Associated Metabolic Abnormalities

Advanced Science, EarlyView.
This study identifies endothelial KDM5A as a key regulator of aging. KDM5A deficiency accelerates aging by enhancing H3K4me3‐mediated FABP4 expression, disrupting fatty acid metabolism, and promoting multi‐organ senescence. KDM5A restoration or FABP4 inhibition reverses these adverse effects and extends lifespan, positioning the KDM5A/FABP4 axis as a ...
Rifeng Gao, Lifeng Liang, Ling Yang, Chunyu Lyu, Yang Lyu, Weijun Yang, Jiaran Shi, Wei Wei, Jiahui Cheng, Xiaolei Sun, Xian Zhu, Chao Chen, Xiaoting Xu, Jianchuang Qi, Wenli Li, Yizhe Zhang, Xiao Zhang, Yan Zhou, Aiqiang Dong, Juntao Chen, Bo Li, Kun Yang   +21 more
wiley   +1 more source

Mutations of OCTN2, an Organic Cation/Carnitine Transporter, Lead to Deficient Cellular Carnitine Uptake in Primary Carnitine Deficiency [PDF]

Human Molecular Genetics, 1999
Systemic primary carnitine deficiency (CDSP, OMIM 212140) is an autosomal recessive disease characterized by low serum and intracellular concentrations of carnitine. CDSP may present with acute metabolic derangement simulating Reye's syndrome within the first 2 years of life.
Tang, N. L., Ganapathy, V., Wu, X., Hui, J., Seth, P., Yuen, P. M., Wanders, R. J., Fok, T. F., Hjelm, N. M.   +8 more
openaire   +2 more sources

Ionic–Bionic Interfaces: Advancing Iontronic Strategies for Bioelectronic Sensing and Therapy

Advanced Science, EarlyView.
Ionic–bionic interfaces for bioelectronics leverage ions as multifunctional mediators that combine mechanical compliance, ionic and electronic functionalities, and therapeutic effects. These systems offer real‐time biosignal transduction, effective wound dressing, responsive drug delivery, and seamless interaction between soft tissues and electronic ...
Yun Goo Ro, Yoojin Chang, Jeeyoon Kim, Seungjae Lee, Sangyun Na, Cheolhong Park, Hyunhyub Ko   +6 more
wiley   +1 more source

Phenotype and genotype variation in primary carnitine deficiency [PDF]

Genetics in Medicine, 2001
Primary carnitine deficiency is an autosomal recessive disorder of fatty acid oxidation resulting from defective carnitine transport. This disease is caused by mutations in the carnitine transporter gene SLC22A5. The objective of this study was to extend mutational analysis to four additional families with this disorder and determine whether recurrent ...
Wang, Yuhuan, Korman, Stanley H., Ye, Jing, Gargus, J Jay, Gutman, Alisa, Taroni, Franco, Garavaglia, Barbara, Longo, Nicola   +7 more
openaire   +3 more sources