Results 41 to 50 of about 178,348 (314)
Phenylalanine Hydroxylase (PAH) Genotyping in PKU Argentine Patients
Journal of Inborn Errors of Metabolism and Screening, 2019 Phenylketonuria (PKU, OMIM 261600) is predominantly caused by mutations in the PAH gene. One hundred and three Argentine PKU patients were studied by Sanger sequencing; 101 were completely characterized (90.3% were compound heterozygotes).
Rosa E. Enacán +10 more
doaj +1 more source
Targeting mGlu5 metabotropic glutamate receptors in the treatment of cognitive dysfunction in a mouse model of phenylketonuria [PDF]
, 2018 We studied group-I metabotropic glutamate (mGlu) receptors in Pah(enu2) (ENU2) mice, which mimic the genetics and neurobiology of human phenylketonuria (PKU), a metabolic disorder characterized, if untreated, by autism, and intellectual disability (ID ...
Battaglia, Giuseppe +12 more
core +2 more sources
Structural basis for ligand-dependent dimerization of phenylalanine hydroxylase regulatory domain
Scientific Reports, 2016 The multi-domain enzyme phenylalanine hydroxylase (PAH) catalyzes the hydroxylation of dietary I-phenylalanine (Phe) to I-tyrosine. Inherited mutations that result in PAH enzyme deficiency are the genetic cause of the autosomal recessive disorder ...
Dipali Patel +4 more
semanticscholar +1 more source
Angewandte Chemie, EarlyView.Short amyloid peptides can act as efficient catalysts of neurotransmitter degradation, and libraries of short peptides can be used to identify core fragments present in larger proteins that might be linked to neurodegenerative diseases. Abstract We have shown that de novo designed peptides self‐assemble in the presence of copper to create ...
Inhye Kim +5 more
wiley +2 more sources
Phenylalanine Hydroxylase Misfolding and Pharmacological Chaperones [PDF]
Current Topics in Medicinal Chemistry, 2013 Phenylketonuria (PKU) is a loss-of-function inborn error of metabolism. As many other inherited diseases the main pathologic mechanism in PKU is an enhanced tendency of the mutant phenylalanine hydroxylase (PAH) to misfold and undergo ubiquitin-dependent degradation. Recent alternative approaches with therapeutic potential for PKU aim at correcting the
Oscar Aubi +2 more
openaire +3 more sources
International Journal of Preventive Medicine, 2017 Background: There are more than 500 different mutations on phenylalanine hydroxylase (PAH) gene that is responsible for phenylketonuria (PKU) diseases and the spectrum of these mutations is varied in different populations. The main clinical manifestation
Daniel Zamanfar +5 more
doaj +1 more source
Biotechnology for Biofuels and Bioproducts, 2023 Background Aromatic compounds derived from tyrosine are important and diverse chemicals that have industrial and commercial applications. Although these aromatic compounds can be obtained by extraction from natural producers, their growth is slow, and ...
Yasuharu Satoh +4 more
doaj +1 more source
Scientific Reports, 2016 Phenylalanine hydroxylase (PAH) is a key tyrosine-biosynthetic enzyme involved in neurological and melanin-associated physiological processes. Despite extensive investigations in holometabolous insects, a PAH contribution to insect embryonic development ...
P. Simonet +9 more
semanticscholar +1 more source
Pediatria i Medycyna Rodzinna, 2018 Phenylketonuria (Online Mendelian Inheritance in Man 261600) is the most common genetic autosomal recessive disease affecting metabolism. This diet-dependent condition is found in Poland in 1:8,000 live births.
Joanna Żółkowska +2 more
doaj +1 more source
Stabilization of Tryptophan Hydroxylase 2 by L-Phenylalanine Induced Dimerization [PDF]
, 2016 Tryptophan hydroxylase 2 (TPH2) catalyses the initial and rate‐limiting step in the biosynthesis of serotonin, which is associated with a variety of disorders such as depression, obsessive compulsive disorder, and schizophrenia.
Boesen, Jane +5 more
core +1 more source