Results 81 to 90 of about 22,061 (226)

A Novel Regulatory Defect in the Branched-Chain α-Keto Acid Dehydrogenase Complex Due to a Mutation in the PPM1K Gene Causes a Mild Variant Phenotype of Maple Syrup Urine Disease

, 2015
This article describes a hitherto unreported involvement of the phosphatase PP2Cm, a recently described member of the branched-chain α-keto acid dehydrogenase (BCKDH) complex, in maple syrup urine disease (MSUD).
Martínez Pardo, Mercedes, Oyarzábal, Alfonso, Desviat, Lourdes R., Navarrete, Rosa, Merinero, Begoña   +4 more
core   +1 more source

A comparative proteomics approach to studying skeletal muscle mitochondria from myostatin knockout mice

, 2006
Myostatin is a negative regulator of muscle growth. When it is not present or non-functional double-muscling occurs, the primary characteristic of this phenotype being an increase in muscle mass.
Puddick, Jonathan
core  

Insulin Resistance: An Update on Biochemical and Pathophysiological Mechanisms and Impact on Various Diseases

iNew Medicine, EarlyView.
ABSTRACT Insulin resistance is the biological phenomenon in which the human body's normal response to the metabolic hormone insulin is compromised. Insulin is a regulator of most of the essential metabolic steps in the body that control energy homoeostasis, so dysregulation leads to multiple diverse human diseases including, most prominently, Type 2 ...
Peter J. Little, Stefan Offermanns, Haaglim Cho, Zhiping Liu, Pinglian Yang, Qiaozhu Su, Henry Wade, Wah Yang, Danielle Kamato, Neale Cohen, Alex Bobik, Iqra Ilyas, Suowen Xu   +12 more
wiley   +1 more source

Gene Therapy for Pyruvate Dehydrogenase Complex Deficiency

Pyruvate dehydrogenase complex deficiency (PDHD) is a rare mitochondrial disorder of carbohydrate metabolism leading to a decrease in adenosine triphosphate (ATP) production. The pyruvate dehydrogenase (PDH) complex is responsible for converting pyruvate
Keegan, Anna
core  

A dendrimer enhanced CRISPR/Cas12a performance for the evaluation of acidogenic capacity in cariogenic bacteria

Interdisciplinary Medicine, EarlyView.
A CRISPR/Cas12a‐powered dendritic DNA nanostructure is assembled to create confined enzymatic microdomains, enabling ultrasensitive detection. Integrated into a paper‐based origami biosensor, it allows equipment‐free on‐site quantification of acidogenic pathogens for the early diagnosis of dental caries.
Yuan Zhang, Yining Zhao, Murtaza Sayed, Feng Chen, Juan Zhang   +4 more
wiley   +1 more source

Dehydrogenase (DLD) Deficiency in an Iranian Patient with Recurrent Intractable Vomiting: Successful Treatment with Thiamine Supplementation: Thiamine as the first line of treatment in DLD deficiency

Dihydrolipoamide dehydrogenase (DLD) deficiency is a rare disease of genetic origin due to the malfunctioning of a shared subunit of three mitochondrial multi-enzyme complexes.
kamfar, sharareh, Jamalipour Soufi, Ghazaleh, moosavian, Toktam   +2 more
core   +1 more source

Metabolic feature profiling and metabolic vulnerability in acute lymphoblastic leukemia

Interdisciplinary Medicine, EarlyView.
For the first time, our study develops a novel metabolic classification and subtyping program, metabolic reprogramming‐based classifier for acute lymphoblastic leukemia, using internal PDT‐ALL‐2016 and external cohorts, which dissects metabolic profiling, clinical outcome, and therapeutic vulnerability for precision metabolic intervention in ALL ...
Xiaojie Liang, Zihong Cai, Bingqing Tang, Zicong Huang, Baiwei Luo, Bingyu Lin, Yunong Yang, Zhihao Jin, Xiaoqing Li, Xiuli Xu, Yeling Deng, Chaoran Lin, Liang Wang, Hongsheng Zhou   +13 more
wiley   +1 more source

Exportin 1 Inhibitor Combined With Venetoclax Induces Apoptosis in Myelodysplastic Syndrome by Mitochondria‐Induced Apoptosis Pathway

Journal of Clinical Laboratory Analysis, EarlyView.
Inhibition of XPO1 is a promising modality in the treatment of MDS, especially when combined with Venetoclax, which activates mitochondria‐mediated apoptosis and could be a potential target for MDS therapy. ABSTRACT Background Myelodysplastic syndromes (MDS) are clonal hematopoietic malignancies that pose a serious health threat.
Xiaohan Liu, Lei Huang, Junzhu Wang, Yixuan Guo, Hongli Shen, Xianghong Zhao, Lanzhu Yue, Zhaoyun Liu, Rong Fu   +8 more
wiley   +1 more source

Reconceptualizing Aplastic Anemia—Seed, Worm, Soil

Journal of Clinical Laboratory Analysis, EarlyView.
Aplastic anemia (AA) encompasses a group of hematological syndromes often misdiagnosed, resulting in a decrease in the overall blood cell count and representing a form of bone marrow failure. We reinterpret AA based on the “seed, worm, and soil” doctrine.
Xintong Xu, Zining Wang, Jiaming Hu, Chunyan Liu, Rong Fu   +4 more
wiley   +1 more source

Intelligent design of artificial biocatalyst for biomedical diseases

Journal of Intelligent Medicine, EarlyView.
This review summarizes recent advances in the intelligent design of artificial biocatalysts for biomedical diseases. By leveraging tailored design strategies, including environment‐responsive engineering and rational/artificial intelligence‐aided optimization, these biocatalysts enable precise modulation of pathological microenvironments and targeted ...
Lijie Zhang, Nan Song, Huanhuan Qiao, Si Sun   +3 more
wiley   +1 more source