Sites of Biosynthesis of Outer and Inner Membrane Proteins of Neurospora crassa Mitochondria [PDF]
, 1970 Outer and inner membranes of Neurospora crassa mitochondria were separated by the combined swelling, shrinking, sonication procedure. Membranes were characterized by electron microscopy and by marker enzyme activities.
Aasen A. J. +14 more
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PAH mutation spectrum and correlation with PKU manifestation in north Jiangsu province population
Kaohsiung Journal of Medical Sciences, 2018 Phenylketonuria (PKU) is a common autosomal recessive disorder of phenylalanine metabolism and mainly results a deficiency of phenylalanine hydroxylase gene (PAH). The incidence of various PAH mutations have race and ethnicity differences.
Zhen-Wen Wang +2 more
doaj +1 more source
BmPAH catalyzes the initial melanin biosynthetic step in Bombyx mori. [PDF]
PLoS ONE, 2013 Pigmentation during insect development is a primal adaptive requirement. In the silkworm, melanin is the primary component of larval pigments. The rate limiting substrate in melanin synthesis is tyrosine, which is converted from phenylalanine by the rate-
Ping Chen +6 more
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Pretreatment cognitive and neural differences between sapropterin dihydrochloride responders and non-responders with phenylketonuria [PDF]
, 2017 Sapropterin dihydrochloride (BH4) reduces phenylalanine (Phe) levels and improves white matter integrity in a subset of individuals with phenylketonuria (PKU) known as “responders.” Although prior research has identified biochemical and genotypic ...
Christ, Shawn E +5 more
core +4 more sources
Central precocious puberty in a 3 year-old girl with Phenylketonuria: a rare association? [PDF]
, 2014 Background Central precocious puberty (CPP) and phenylketonuria (PKU) are two rare conditions, the latter being the rarer. To date, only one case featuring both these conditions has been reported, and hyperphenylalaninemia was assumed triggering CPP.
Donaldson, Malcolm +3 more
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Phenylketonuria (PKU): A problem solved?
Molecular Genetics and Metabolism Reports, 2016 Phenylketonuria (PKU) is a rare metabolic disorder characterized by impaired conversion of phenylalanine (Phe) to tyrosine. If left untreated, the resultant accumulation of excess blood Phe can cause physiological, neurological, and intellectual ...
Christine S. Brown, Uta Lichter-Konecki
doaj +1 more source
Phenylalanine Hydroxylase Deficiency and Citrin Deficiency in a Chinese Infant [PDF]
Chinese Medical Journal, 2015 Jun Ye +4 more
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Molecular analysis of PKU-associated PAH mutations: a fast and simple genotyping test [PDF]
, 2018 : Neonatal screening for phenylketonuria (PKU, OMIM: 261600) was introduced at the end of the 1960s. We developed a rapid and simple molecular test for the most frequent phenylalanine hydroxylase (PAH, Gene ID: 5053) mutations.
Antonio Angeloni +9 more
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Dynamic regulation of phenylalanine hydroxylase
Pteridines, 2014 Phenylalanine hydroxylase (PAH) is the key enzyme in phenylalanine metabolism, catalyzing its oxidative breakdown to tyrosine. Its function in the committed step of amino acid metabolism requires strict regulation. Thus, several regulatory mechanisms are
Fuchs Julian E. +2 more
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Generation and analysis of an Eucalyptus globulus cDNA library constructed from seedlings subjected to low temperature conditions [PDF]
, 2008 Indexación: ScieloEucalyptus globulus is the most important commercial temperate hardwood in the world because of its wood properties and due to its characteristics for biofuel production. However, only a very low number of expressed sequence tags (ESTs)
Gamboa, Maria Cecilia +4 more
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