Results 51 to 60 of about 538,734 (195)

Development of an mRNA replacement therapy for phenylketonuria

Molecular Therapy: Nucleic Acids, 2022
Phenylketonuria (PKU) is an inborn error caused by deficiencies in phenylalanine (Phe) metabolism. Mutations in the phenylalanine hydroxylase (PAH) gene are the main cause of the disease whose signature hallmarks of toxically elevated levels of Phe ...
Carlos G. Perez-Garcia, Ramon Diaz-Trelles, Jerel Boyd Vega, Yanjie Bao, Marciano Sablad, Patty Limphong, Simon Chikamatsu, Hailong Yu, Wendy Taylor, Priya P. Karmali, Kiyoshi Tachikawa, Padmanabh Chivukula   +11 more
doaj   +1 more source

Phenolic profile of selected grape (Vitis vinifera L.) varieties in the course of ripening and Botrytis cinerea infections

Journal of the Science of Food and Agriculture, EarlyView.
Abstract BACKGROUND Grapevine phenolic compounds play key roles in plant defense and wine quality. Composition depends on factors such as maturity and infections such as grey mold caused by Botrytis cinerea. Grapevines respond to infections by actively modifying their phenolic profile.
Kim Marie Umberath, Louis Backmann, Maren Scharfenberger‐Schmeer, Pascal Wegmann‐Herr, Andreas Schieber, Fabian Weber   +5 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

Expanded newborn screening for inherited metabolic disorders by tandem mass spectrometry in a northern Chinese population

Frontiers in Genetics, 2022
Tandem mass spectrometry (MS/MS) has been developed as one of the most important diagnostic platforms for the early detection and screening of inherited metabolic disorders (IMDs).
Hong Zhang, Yanyun Wang, Yali Qiu, Chao Zhang   +3 more
doaj   +1 more source

Emerging insights into amino acid metabolism in the heart: implications for cardiovascular diseases and therapeutic targeting

British Journal of Pharmacology, EarlyView.
As a metabolically versatile organ, the heart is capable of generating energy from a wide range of substrates. Although fatty acid and glucose metabolism in the heart have been extensively studied, the contribution of amino acid metabolism to cardiac physiology and disease is gaining increasing attention.
Tayyiba Azam, Hongyuan Zhang, Min Zi, Chen Chen, Junfang Wu, Andreas Papapetropoulos, Xin Wang   +6 more
wiley   +1 more source

Challenges in the management of Phenylketonuria in Malta [PDF]

, 2016
Phenylketonuria (PKU) is a rare metabolic disorder comprising a number of different enzyme deficiencies. In Malta, dihydropteridine reductase (DHPR) deficiency appears to be more common than phenylalanine hydroxylase deficiency (classical PKU), and is ...
Attard, Stephen, Attard Montalto, Simon
core  

Protein intake and physical activity are associated with body composition in individuals with phenylalanine hydroxylase deficiency [PDF]

, 2017
OBJECTIVE: Determine whether body composition as it relates to dietary protein in patients with phenylalanine hydroxylase (PAH) deficiency is associated with genotype, dietary factors, and lifestyle choices.
Teresa Douglas, Rani Singh, Douglas, Teresa, Jani, Rati; id_orcid, Coakley, Kathryn, Singh, Rani, Kathryn Coakley, Rati Jani, Jani, Rati   +8 more
core   +1 more source

Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand

BMC Medical Genetics, 2017
Background Hyperphenylalaninemia (HPA) can be classified into phenylketonuria (PKU) which is caused by mutations in the phenylalanine hydroxylase (PAH) gene, and BH4 deficiency caused by alterations in genes involved in tetrahydrobiopterin (BH4 ...
Pongsathorn Chaiyasap, Chupong Ittiwut, Chalurmpon Srichomthong, Apiruk Sangsin, Kanya Suphapeetiporn, Vorasuk Shotelersuk   +5 more
doaj   +1 more source

Simultaneous Overexpression of FERULOYL‐CoA 6′‐HYDROXYLASE 1 and COUMARIN SYNTHASE Leads to Coumarin‐Enriched Lignin and Improved Saccharification in Greenhouse‐ and Field‐Grown Poplar

Plant Biotechnology Journal, EarlyView.
ABSTRACT The urgent need for renewable resources has increased the interest in woody biomass to manufacture bio‐based products. However, lignin recalcitrance limits the enzymatic conversion of wood into fermentable sugars, posing a major challenge for biomass deconstruction.
Nette De Ridder, Lennart Hoengenaert, Jan Van Doorsselaere, Wim De Clercq, Geert Goeminne, Sarah Liu, Fachuang Lu, John Ralph, Ruben Vanholme, Wout Boerjan   +9 more
wiley   +1 more source

Tetrahydrobiopterin (Bh4) deficiencies: diagnosis and treatment

Acta Pediátrica de México, 2014
Tetrahydrobiopterin (BH4) is an enzyme cofactor of phenylalanine hydroxylase, tyrosine hydroxylase and tryptophan hydroxylase. Three different enzymes affect BH4 synthesis: guanosine triphosphate cyclohydrolase I (GTP CH 1), 6-piruvoil tetrahydropterin ...
Mercedes Martínez-Pardo
doaj   +1 more source