Results 31 to 40 of about 23,946 (202)

PKU dietary handbook to accompany PKU guidelines

Orphanet Journal of Rare Diseases, 2020
Background Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine.
A. MacDonald, A. M. J. van Wegberg, K. Ahring, S. Beblo, A. Bélanger-Quintana, A. Burlina, J. Campistol, T. Coşkun, F. Feillet, M. Giżewska, S. C. Huijbregts, V. Leuzzi, F. Maillot, A. C. Muntau, J. C. Rocha, C. Romani, F. Trefz, F. J. van Spronsen   +17 more
doaj   +1 more source

Ferritinophagy Rewires Carnitine‐Dependent Lipid Metabolism to Inhibit PRRSV and IAV Replication

Advanced Science, EarlyView.
NCOA4‐mediated ferritinophagy reprograms carnitine metabolism by disrupting Fe‐S cluster biogenesis, thereby establishing an iron‐lipid axis that suppresses various viruses, including PRRSV and IAV. However, viruses counteract this mechanism by degrading NCOA4.
Kaifeng Guan, Chenyang Yuan, Zekun Meng, Yanan Wang, Xueying Zhai, Chunjie Huang, Xiang Zhou, Gaiping Zhang   +7 more
wiley   +1 more source

Dictyostelium phenylalanine hydroxylase is activated by its substrate phenylalanine [PDF]

FEBS Letters, 2012
dicPAH and dicPAH bind by molecular sieving (View Interaction: 1, 2, 3, 4)
Kim, Hye-Lim, Park, Mi-Bee, Kim, Yumin, Yang, Yun Gyeong, Lee, Soo-Woong, Zhuang, Ningning, Lee, Kon Ho, Park, Young Shik   +7 more
openaire   +2 more sources

Multi‐tissue Metabolic GWAS and Drought‐Responsive Multi‐omics Reveal the Genetic Basis of the Quinoa Metabolome

Advanced Science, EarlyView.
A multi‐omics framework combining multitissue genome‐wide association studies, metabolomics, transcriptomics, proteomics, and functional validation uncovers the genetic basis of specialized metabolism in quinoa. The study identifies hundreds of metabolite‐associated loci, prioritizes candidate genes for saponin, betalain, and flavonoid biosynthesis ...
Julia von Steimker, Elodie L. Rey, Clara Stanschewski, Regina Wendenburg, Annabella Klemmer, Markéta Macho, Venkatesh P. Thirumalaikumar, Noha O. Saber, Aleksandra Skirycz, Alisdair R. Fernie, Mark Tester, Saleh Alseekh   +11 more
wiley   +1 more source

Liver phenylalanine hydroxylase assay [PDF]

Biochemical Medicine, 1976
The first reaction is catalyzed by phenylalanine hydroxylase and the second reaction, which generates the reduced form of pteridine cofactor (biopterin), is catalyzed by dihydropteridine reductase (l-3). A direct assay of phenylalanine hydroxylase can be achieved by supplying optimal concentrations of reduced pteridine cofactor or an analog of the ...
openaire   +3 more sources

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Tissue‐Specific and Spatially Dependent Metabolic Signatures Perturbed by Injury in Male and Female Mice

Arthritis &Rheumatology, EarlyView.
Objective Osteoarthritis, the leading cause of disability worldwide, disproportionately affects women, yet sex remains an overlooked determinant. This disparity stems from sex‐specific differences in injury susceptibility—a major risk factor for disease.
Hope D. Welhaven, Avery H. Welfley, Priyanka P. Brahmachary, Mark Greenwood, Donald F. Smith, Brian Bothner, Ronald K. June   +6 more
wiley   +1 more source

Hyperphenylalaninemia and serotonin deficiency in Dnajc12-deficient mice

Communications Biology
Serotonin exerts numerous neurological and physiological actions in the brain and in the periphery. It is generated by two different tryptophan hydroxylase enzymes, TPH1 and TPH2, in the periphery and in the brain, respectively, which are members of the ...
Yunqing Cao, Oliver Popp, Niccolo Milani, Fatimunnisa Qadri, Ralf Kühn, Philipp Mertins, Michael Bader, Natalia Alenina   +7 more
doaj   +1 more source

The analysis of the phenylalanine hydroxylase gene mutations by sequencing and ARMS techniques in Turkish patients

Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2016
Purpose: Phenylketonuria is an autosomal recessive deficiency of the hepatic enzyme phenylalanine hydroxylase. With this study, detection of the most frequent phenylalanine hydroxylase gene mutations in Turkish population is aimed. Material and Methods:
Umit Luleyap, Percin Pazarci, Gamze Comertpay, Halise Neslihan Onenli, Ayfer Pazarbasi, Davut Alptekin, Halil Kasap, Ursula Froster   +7 more
doaj   +1 more source

Structural features of the regulatory ACT domain of phenylalanine hydroxylase. [PDF]

PLoS ONE, 2013
Phenylalanine hydroxylase (PAH) catalyzes the conversion of L-Phe to L-Tyr. Defects in PAH activity, caused by mutations in the human gene, result in the autosomal recessively inherited disease hyperphenylalaninemia. PAH activity is regulated by multiple
Carla Carluccio, Franca Fraternali, Francesco Salvatore, Arianna Fornili, Adriana Zagari   +4 more
doaj   +1 more source