Results 91 to 100 of about 38,591 (268)

Hypoxia as a therapy for mitochondrial disease [PDF]

, 2016
Defects in the mitochondrial respiratory chain (RC) underlie a spectrum of human conditions, ranging from devastating inborn errors of metabolism to aging.
Alexa, K., Dhillon, H., Goessling, W., Goldberger, O., Goli, R., Jain, I. H., Mootha, V. K., Peng, J., Sanjana, Neville E, Schatzman-Bone, S., Shalem, Ophir, Zapol, W. M., Zazzeron, L., Zhang, Feng   +13 more
core   +1 more source

The Mitochondrial Protein RESISTANCE to APHIDS 9 Interacts with S40 to Resist Aphid Infestation by Modulating Reactive Oxygen Species Homeostasis in Maize (Zea mays)

Advanced Science, EarlyView.
This study identifies the mitochondrial protein RTA9, a member of the Domain of Unknown Function 641 family, together with its partner S40, as key regulators of aphid resistance in maize. RTA9 promotes S40 degradation and modulates reactive oxygen species accumulation.
Chuanhong Wang, Xinqiao Zhang, Zhen Tao, Lei Wang, Shijie Huang, Tengyue Wang, Yibing Zhao, Jinghui Dong, Jing Ma, Chang Chang, Xingzhi Chen, Ning Lin, Peijin Li   +12 more
wiley   +1 more source

Newborn screening using tandem mass spectrometry: A systematic review [PDF]

Objectives: To evaluate the evidence for the clinical effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS).
Beverley, C., Chilcott, J., Eastham, J., Paisley, S., Pandor, A.   +4 more
core  

Adenylosuccinate Synthase 1 Deficiency Improves Energy Metabolism by Promoting Adipose Tissue Re‐esterification via Glycerol Kinase Upregulation

Advanced Science, EarlyView.
Working model of Adss1‐mediated regulation of energy metabolism in adipose tissue. In beige adipocytes, Adss1 interacts with HDAC3 in the cytoplasm, and its loss reduces nuclear HDAC3 while increasing cytosolic fractions. This redistribution suppresses HDAC activity and enhances H3K27 acetylation at the Gk promoter, leading to transcriptional ...
Jingjing Sun, Miriayi Alimujiang, Wenfei Li, Shuqin Chen, Yingying Su, Tingting Hu, Xuhong Lu, Yafen Ye, Ningning Bai, Fan Hu, Xiaoya Li, Rongrong Xu, Jun Xu, Jiarui Zhao, Yan Lu, Xiaojing Ma, Ying Yang   +16 more
wiley   +1 more source

Clinical standards and interpretation of gene sequence variants in human Mendelian disorders

Chinese Journal of Contemporary Neurology and Neurosurgery, 2017
DOI: 10.3969/j.issn.1672-6731.2017.07 ...
Bei-sha TANG, Sheng ZENG, Kai LI
doaj  

Disruption of Gut Microbiota‐Mediated De Novo NAD+ Synthesis Contributes to the Development of Polycystic Ovary Syndrome

Advanced Science, EarlyView.
This study demonstrates that patients with PCOS exhibit altered gut microbial profiles, and FMT from PCOS patients induces PCOS‐like symptoms in mice. Specifically, gut dysbiosis reduces 3‐HAA levels in the context of PCOS. Administration of 3‐HAA to mice alleviates PCOS by promoting de novo NAD+ synthesis.
Ke Chen, Huafeng Geng, Yang Zheng, Hongyang Xie, Rui Qin, Junyang Chen, Cong Ye   +6 more
wiley   +1 more source

Shprintzen-Goldberg syndrome

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2017
The Shprintzen-Goldberg syndrome is an extremely rare disorder of the connective tissue, characterized by Marfanoid bodily habitus, craniosynostosis with peculiar facies and skeletal alterations associated with intellectual disability.
Elayne Esther Santana Hernández
doaj  

Alpha-1 antitrypsin deficiency [PDF]

, 2001
α-1 antitrypsin is synthesised in the liver and protects lung alveolar tissues from destruction by neutrophil elastase. α-1 antitrypsin deficiency is a common autosomal recessive condition (1:1600 to 1:1800) in which liver disease results from retention ...
Primhak, R.A., Tanner, M.S.
core   +2 more sources

A “Mesoporous Oxygen Chamber” Scaffold with Antibacterial and Early Immunomodulatory Effect for Promoting Bone Regeneration

Advanced Science, EarlyView.
In this study, an oxygen‐loaded and antimicrobial peptide (AP)‐functionalized scaffold (MBGAPO) is synthesized. With mesoporous structure of MBG applied as an “oxygen storage,” and AP‐provided antibacterial ability against E.coli and MRSA. MBGAPO exhibited osteogenic and multiplex‐immunomodulatory effects.
You Fu, Dan Lin, Zhicen Lu, Jian Wang, Jing Zhao, Zhiyuan Zhang, Bing Fang, Xiao Yang   +7 more
wiley   +1 more source

Strategies and problems of genetic diagnosis for neurogenetic diseases

Chinese Journal of Contemporary Neurology and Neurosurgery, 2017
Neurogenetic diseases are difficult to diagnose due to complicated phenotypes. Genetic testing is always the option for final diagnosis. With the progress and update of molecular diagnostic techniques, especially widely usage of next - generation ...
Xun-hua LI, Ding-bang CHEN, Chao WU
doaj