Results 111 to 120 of about 38,679 (221)

Characterization of phenylalanine hydroxylase gene variants and analysis of genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Fujian Province, Southeastern China. [PDF]

Mol Biol Rep, 2022
Zhou J, Zeng Y, Qiu X, Lin Q, Chen W, Luo J, Xu L.   +6 more
europepmc   +1 more source

Histopathological Effects on the Eye Development During Perinatal Growth of Albino Rats Maternally Treated with Experimental Phenylketonuria During Pregnancy [PDF]

, 2016
Phenylketonuria (PKU) is a genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenylalanine. The disease results from a deficiency in phenylalanine hydroxylase, the enzyme catalyzing the conversion of ...
Ebied, H. M. (Hala), Elsayyad, H. I. (Hassan), Hefty, H. A. (Hany), Mohallal, M. E. (Mahmoud)   +3 more
core  

Molecular phenotyping of the pal1 and pal2 mutants of Arabidopsis thaliana reveals far-reaching consequences on phenylpropanoid, amino acid, and carbohydrate metabolism [PDF]

, 2004
The first enzyme of the phenylpropanoid pathway, Phe ammonia-lyase (PAL), is encoded by four genes in Arabidopsis thaliana. Whereas PAL function is well established in various plants, an insight into the functional significance of individual gene family ...
Boerjan, Wout, De Rycke, Riet, Goeminne, Geert, Hostyn, Vanessa, Joseleau, Jean-Paul, Kushnir, Sergei, Messens, Eric, Morreel, Kris, Ralph, John, Rohde, Antje, Van Beeumen, Jozef, Van Doorsselaere, Jan, Van Driessche, Gonzalez, Vuylsteke, Marnik   +13 more
core   +3 more sources

GmMYB4 Positively Regulates Isoflavone Biosynthesis via the GmMAPK6‐GmMYB4‐MBW Module in Soybean

Plant Biotechnology Journal, Volume 24, Issue 3, Page 1482-1499, March 2026.
ABSTRACT Isoflavones, a class of bioactive compounds predominantly found in leguminous plants, are largely responsible for their beneficial effects on human health. Although MYB transcription factors (TFs) are known to be crucial regulators of isoflavone biosynthesis in soybean, the precise mechanisms underlying their regulatory functions remain poorly
Changyun Yang, Peipei Zhang, Pingbo Jiang, Yingying Song, Junyu Wang, Wenyan Hou, Zhongyi Yang, Wei Zhao, Yixiang Pu, Shanshan Chu, Jiao Wang, Hao Cheng, Deyue Yu   +12 more
wiley   +1 more source

Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria

Orphanet Journal of Rare Diseases
Background Phenylketonuria (PKU) is an inborn error of phenylalanine (Phe) metabolism that, if untreated, causes Phe accumulation in the brain leading to neurophysiologic alterations and poor outcomes.
Kaleigh B. Whitehall, Sarah Rose, Gillian E. Clague, Kirsten K. Ahring, Deborah A. Bilder, Cary O. Harding, Álvaro Hermida, Anita Inwood, Nicola Longo, François Maillot, Ania C. Muntau, André L. S. Pessoa, Júlio C. Rocha, Fran Rohr, Serap Sivri, Jack Said, Sheun Oshinbolu, Gillian C. Sibbring   +17 more
doaj   +1 more source

Conventional Phenylketonuria Treatment

Journal of Inborn Errors of Metabolism and Screening, 2016
Phenylketonuria (PKU) is caused by a deficient activity of enzyme phenylalanine (Phe) hydroxylase, which results in high Phe blood concentration, which is toxic to the central nervous system.
Guillén-López Sara MS, RD, López-Mejía Lizbeth Alejandra RD, Ibarra-González Isabel MS, Vela-Amieva Marcela MD   +3 more
doaj   +1 more source

Tetrahydrobiopterin Deficiency: From Phenotype to Genotype [PDF]

, 2017
As a result of the selective screening worldwide during the last 18 years, approximately 250 patients with tetrahydrobiopterin deficiency were discovered.
Blau, Nenad, Dhondt, Jean-Louis, Heizmann, Claus W., Thöny, Beat   +3 more
core  

Genome Assembly Revealed MdZAT5 Coordinates Anthocyanin Biosynthesis in Apple Fruit Peel and Flesh by Interacting With MdHY5

Plant Biotechnology Journal, Volume 24, Issue 3, Page 1655-1677, March 2026.
ABSTRACT Anthocyanins are plant pigments that contribute to fruit coloration and nutritional quality, yet the coordinated regulation of their accumulation in both peel and flesh remains elusive. Here, we present a haplotype‐resolved genome of Malus cv. ‘Royalty’, a model cultivar with consistently red peel and flesh. A zinc‐finger transcription factor,
Mengnan Zhao, Mosen Zhang, Weilei Sun, Shiyao Duan, Jie Zhang, Tingting Song, Yaoxin Wang, Yuncong Yao, Ji Tian   +8 more
wiley   +1 more source

Metabolic engineering of functional phytochemicals [PDF]

, 2013
Phytochemicals belonging to the group’s phenols, terpenes, betalains, organosulfides, indoles and protein inhibitors are important components in fruits, vegetables, legumes, whole grains and nuts that have health promoting benefits and a variety of ...
Abdul Hamid, Azizah, Mohammed, Abdulkarim Sabo, Radu, Son, Saari, Nazamid, Umar, Kabir Mustapha   +4 more
core  

Reducing the Sinapine Levels of Camelina sativa Seeds Through Targeted Genome Editing of REF1

Plant Biotechnology Journal, Volume 24, Issue 3, Page 1839-1865, March 2026.
ABSTRACT Sinapine (O‐sinapoyl choline) is the major phenolic metabolite typically found in the oil‐rich seeds of Brassicaceae such as Camelina sativa and Brassica napus. It imparts a bitter taste to the seeds as a defence mechanism against herbivores, but it also renders them less palatable to livestock.
Amélie A. Kelly, Martin Fulda, Merle Aden, Ilka N. Abreu, Kirstin Feussner, Ivo Feussner   +5 more
wiley   +1 more source