keyword
MENU ▼
Read by QxMD icon Read
search

Pku

keyword
https://www.readbyqxmd.com/read/28521017/cpc2-a-fast-and-accurate-coding-potential-calculator-based-on-sequence-intrinsic-features
#1
Yu-Jian Kang, De-Chang Yang, Lei Kong, Mei Hou, Yu-Qi Meng, Liping Wei, Ge Gao
With advances in next-generation sequencing technologies, numerous novel transcripts in a large number of organisms have been identified. With the goal of fast, accurate assessment of the coding ability of RNA transcripts, we upgraded the coding potential calculator CPC1 to CPC2. CPC2 runs ∼1000 times faster than CPC1 and exhibits superior accuracy compared with CPC1, especially for long non-coding transcripts. Moreover, the model of CPC2 is species-neutral, making it feasible for ever-growing non-model organism transcriptomes...
May 18, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28520731/genetically-engineered-probiotic-for-the-treatment-of-phenylketonuria-pku-assessment-of-a-novel-treatment-in-vitro-and-in-the-pahenu2-mouse-model-of-pku
#2
Katherine E Durrer, Michael S Allen, Ione Hunt von Herbing
Phenylketonuria (PKU) is a genetic disease characterized by the inability to convert dietary phenylalanine to tyrosine by phenylalanine hydroxylase. Given the importance of gut microbes in digestion, a genetically engineered microbe could potentially degrade some ingested phenylalanine from the diet prior to absorption. To test this, a phenylalanine lyase gene from Anabaena variabilis (AvPAL) was codon-optimized and cloned into a shuttle vector for expression in Lactobacillus reuteri 100-23C (pHENOMMenal). Functional expression of AvPAL was determined in vitro, and subsequently tested in vivo in homozygous PAHenu2 (PKU model) mice...
2017: PloS One
https://www.readbyqxmd.com/read/28506393/partial-rescue-of-neuropathology-in-the-murine-model-of-pku-following-administration-of-recombinant-phenylalanine-ammonia-lyase-pegvaliase
#3
Marc Goldfinger, William L Zeile, Carley R Corado, Charles A O'Neill, Laurie S Tsuruda, Philip J Laipis, Jonathan D Cooper
Pegylated recombinant phenylalanine ammonia lyase (pegvaliase) is an enzyme substitution therapy being evaluated for the treatment of phenylketonuria (PKU). PKU is characterized by elevated plasma phenylalanine, which is thought to lead to a deficiency in monoamine neurotransmitters and ultimately, neurocognitive dysfunction. A natural history evaluation in a mouse model of PKU demonstrated a profound decrease in tyrosine hydroxylase (TH) immunoreactivity in several brain regions, beginning at 4weeks of age...
April 29, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28491816/treatment-adherence-during-childhood-in-individuals-with-phenylketonuria-early-signs-of-treatment-discontinuation
#4
María Ignacia García, Gabriela Araya, Soledad Coo, Susan E Waisbren, Alicia de la Parra
INTRODUCTION: Phenylketonuria (PKU) is an autosomal recessive disorder characterized by a deficiency in phenylalanine (Phe) hydroxylase activity. Early diagnosis and continuous treatment with a low Phe diet prevents severe neurological and cognitive impairment. AIMS: 1. Analyze how treatment adherence evolves through infancy, childhood, and early adolescence in individuals with PKU. 2. Identify early signs of treatment discontinuation. METHODOLOGY: This longitudinal, retrospective study included 75 children diagnosed through newborn screening, ages 7 to 13 years...
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28491049/sleep-disturbances-in-phenylketonuria-an-explorative-study-in-men-and-mice
#5
Vibeke M Bruinenberg, Marijke C M Gordijn, Anita MacDonald, Francjan J van Spronsen, Eddy A Van der Zee
Sleep problems have not been directly reported in phenylketonuria (PKU). In PKU, the metabolic pathway of phenylalanine is disrupted, which, among others, causes deficits in the neurotransmitters and sleep modulators dopamine, norepinephrine, and serotonin. Understanding sleep problems in PKU patients may help explain the pathophysiology of brain dysfunction in PKU patients. In this explorative study, we investigated possible sleep problems in adult treated PKU patients and untreated PKU mice. In the PKU patients, sleep characteristics were compared to healthy first degree relatives by assessment of sleep disturbances, sleep-wake patterns, and sleepiness with the help of four questionnaires: Holland sleep disorder questionnaire, Pittsburgh sleep quality index, Epworth sleepiness scale, and Munich Chronotype Questionnaire...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28489557/reduced-bone-mineral-density-in-chinese-children-with-phenylketonuria
#6
Kundi Wang, Ming Shen, Honglei Li, Xiaowen Li, Chun He
BACKGROUND: Phenylketonuria (PKU) is an autosomal recessive metabolic disorder. Dietary control of classic PKU needs restriction of natural proteins. The diet results in unbalanced nutrition, which might affect the physical development of the patients. Our aim was to evaluate bone mineral density (BMD) in children with PKU. METHODS: To investigate the BMD of children with PKU, 41 children with PKU and 64 healthy controls were recruited (all 3-4 years of age). Body weight and height, BMD, Phe blood levels, thyroid function, calcium, phosphorus, iron metabolism markers, and vitamin D3 were measured...
May 9, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28472877/psychological-and-psychosocial-implications-for-parenting-a-child-with-phenylketonuria-a-systematic-review
#7
Lidia Borghi, Elisabetta Salvatici, Enrica Riva, Marcello Giovannini, Elena A Vegni
INTRODUCTION: Since phenylketonuria (PKU) appears to have specificities that might challenge the parents' adaptation and well-being, the present review aimed to evaluate the impact of parenting a child with PKU on parents' psychological and psychosocial functioning. EVIDENCE ACQUISITION: A systematic electronic search was conducted using PubMED, Scopus, Embase, PsychInfo, Google Scholar and Cochrane Database to identify studies exploring psychological and psychosocial issues of parents of PKU children...
May 4, 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/28468253/unbalance-between-excitation-and-inhibition-in-phenylketonuria-a-genetic-metabolic-disease-associated-with-autism
#8
Antonella De Jaco, Dalila Mango, Federica De Angelis, Flores Lietta Favaloro, Diego Andolina, Robert Nisticò, Elena Fiori, Marco Colamartino, Tiziana Pascucci
Phenylketonuria (PKU) is the most common genetic metabolic disease with a well-documented association with autism spectrum disorders. It is characterized by the deficiency of the phenylalanine hydroxylase activity, causing plasmatic hyperphenylalaninemia and variable neurological and cognitive impairments. Among the potential pathophysiological mechanisms implicated in autism spectrum disorders is the excitation/inhibition (E/I) imbalance which might result from alterations in excitatory/inhibitory synapse development, synaptic transmission and plasticity, downstream signalling pathways, and intrinsic neuronal excitability...
April 29, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28446738/work-activity-and-phenylalanine-levels-in-a-population-of-young-adults-with-classic-pku
#9
Michele Augusto Riva, Fabiana Madotto, Massimo Turato, Elisabetta Salvatici, Silvia Indovina, Marcello Giovannini, Enrica Riva, Giancarlo Cesana
BACKGROUND: Phenylketonuria (PKU) is an inborn error of metabolism characterized by increased blood concentrations of phenylalanine (Phe). OBJECTIVES: The aim of the present study was to assess the association between the metabolic compliance of adult patients affected by classic PKU and the characteristics of their present and past occupations. METHODS: The study population consisted of working adults, affected by classic PKU, and following a dietary treatment...
April 21, 2017: La Medicina del Lavoro
https://www.readbyqxmd.com/read/28407145/gepia-a-web-server-for-cancer-and-normal-gene-expression-profiling-and-interactive-analyses
#10
Zefang Tang, Chenwei Li, Boxi Kang, Ge Gao, Cheng Li, Zemin Zhang
Tremendous amount of RNA sequencing data have been produced by large consortium projects such as TCGA and GTEx, creating new opportunities for data mining and deeper understanding of gene functions. While certain existing web servers are valuable and widely used, many expression analysis functions needed by experimental biologists are still not adequately addressed by these tools. We introduce GEPIA (Gene Expression Profiling Interactive Analysis), a web-based tool to deliver fast and customizable functionalities based on TCGA and GTEx data...
April 12, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28402322/nutritional-status-in-patients-with-phenylketonuria-using-glycomacropeptide-as-their-major-protein-source
#11
A Pinto, M F Almeida, P C Ramos, S Rocha, A Guimas, R Ribeiro, E Martins, A Bandeira, A MacDonald, J C Rocha
BACKGROUND/OBJECTIVES: Low phenylalanine (PHE), glycomacropeptide-based protein substitute (GMP) is an alternative to traditional L-amino acid supplements (AA) used in the dietary management of phenylketonuria (PKU). In a retrospective, longitudinal study, we report the nutritional status of PKU patients taking AA and GMP. SUBJECTS/METHODS: Eleven PKU patients aged 27±10 years (1 HPA, 4 mild and 6 classical PKU) on dietary treatment were evaluated (anthropometry, body composition, blood pressure measurements, biochemical markers including vitamin, mineral, lipids, carbohydrates and protein status/metabolism, and nutritional intake assessment) at two different annual reviews...
April 12, 2017: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28400091/metabolomic-changes-demonstrate-reduced-bioavailability-of-tyrosine-and-altered-metabolism-of-tryptophan-via-the-kynurenine-pathway-with-ingestion-of-medical-foods-in-phenylketonuria
#12
Denise M Ney, Sangita G Murali, Bridget M Stroup, Nivedita Nair, Emily A Sawin, Fran Rohr, Harvey L Levy
BACKGROUND: Deficiencies of the monoamine neurotransmitters, such as dopamine synthesized from Tyr and serotonin synthesized from Trp, are of concern in PKU. Our objective was to utilize metabolomics analysis to assess monoamine metabolites in subjects with PKU consuming amino acid medical foods (AA-MF) and glycomacropeptide medical foods (GMP-MF). METHODS: Subjects with PKU consumed a low-Phe diet combined with AA-MF or GMP-MF for 3weeks each in a randomized, controlled, crossover study...
April 6, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28399504/source-apportionment-of-pb-containing-particles-in-beijing-during-january-2013
#13
Jing Cai, Jiandong Wang, Yanjun Zhang, Hezhong Tian, Chuanyong Zhu, Deborah S Gross, Min Hu, Jiming Hao, Kebin He, Shuxiao Wang, Mei Zheng
Although leaded gasoline has been banned in some megacities in China since 1997 and nationally since 2000, atmospheric lead (Pb) pollution is still an important issue in China, as its concentration in megacities such as Beijing remains high. To measure the Pb concentration and identify sources of Pb-containing particles in Beijing during January 2013, both an online Single Particle Aerosol Mass Spectrometer (SPAMS) and offline filters analyzed by inductively coupled plasma-mass spectrometer (ICP-MS) were used at a monitoring site on the Peking University (PKU) campus...
April 8, 2017: Environmental Pollution
https://www.readbyqxmd.com/read/28389235/dna-methylated-alleles-of-the-phenylalanine-hydroxylase-promoter-remodeled-at-elevated-phenylalanine-levels-in-newborns-with-hyperphenylalaninemia
#14
Chike Bellarmine Item, Somayeh Farhadi, Andrea Schanzer, Susanne Greber-Platzer
OBJECTIVES: Although high phenylalanine (phe) exposure has been shown to influence the DNA methylation status of leukocytes in hyperphenylalaninemia (HPA), the potential of DNA methylation changes as a biomarker of pretreatment high phe exposure in diet free newborns with HPA has not been explored. We therefore investigated the DNA methylation pattern of the phenylalanine hydroxylase (PAH) gene promoter at different phe levels, and the possibility of DNA methylation pattern changes being a biomarker of high phe exposure in diet free newborns with HPA...
April 4, 2017: Clinical Biochemistry
https://www.readbyqxmd.com/read/28386663/a-child-with-phenylketonuria-and-focal-segmental-glomerulosclerosis-the-bright-side-of-proteinuria
#15
Fatma Rabah, Khalid Al-Thihli, Mohamed El-Naggari, Ibtisam B Elnour
Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism. Phenylalanine hydroxylase is the underlying deficient enzyme. If left untreated, growth failure, microcephaly, global developmental delay, seizures and severe intellectual impairment would characterize the clinical picture of PKU. On the other side of protein homeostasis lies nephrotic syndrome. It is a well-known quantitative defect due to significant proteinuria. Focal segmental glomerulosclerosis (FSGS) is a special congenital variant affecting children and adults...
April 7, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28382600/treatment-adherence-and-psychological-wellbeing-in-maternal-carers-of-children-with-phenylketonuria-pku
#16
Emma Medford, Dougal Julian Hare, Katie Carpenter, Stewart Rust, Simon Jones, Anja Wittkowski
Phenylketonuria (PKU), a rare metabolic disorder, causes cognitive impairment unless treated with a strict, protein-restricted diet, but few studies have examined the relationship between treatment compliance and parental wellbeing. In the present study, 46 primary caregivers of children with PKU completed measures of psychological distress, parenting stress (related to caring for a child with an illness), resilience, perceived social support and child dependency. Treatment adherence was assessed using the proportion of blood phenylalanine concentrations within target range in the preceding year...
April 6, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28366684/erratum-to-validation-of-amino-acids-measurement-in-dried-blood-spot-by-fia-ms-ms-for-pku-management-clin-biochem-49-2016-1047-1050
#17
C Bruno, D Dufour-Rainfray, F Patin, P Vourc'h, D Guilloteau, F Maillot, F Labarthe, M Tardieu, C R Andres, P Emond, H Blasco
No abstract text is available yet for this article.
March 30, 2017: Clinical Biochemistry
https://www.readbyqxmd.com/read/28343264/modulating-the-ph-activity-profiles-of-phenylalanine-ammonia-lyase-from-anabaena-variabilis-by-modification-of-center-near-surface-residues
#18
Fan Zhang, Nan Huang, Li Zhou, Wenjing Cui, Zhongmei Liu, Longbao Zhu, Yi Liu, Zhemin Zhou
Phenylalanine ammonia lyase from Anabaena variabilis (Av-PAL) is a candidate for the treatment of phenylketonuria (PKU). However, Av-PAL shows its optimal pH at 8.5 and maintains only 70% of its highest activity when pH decreases to 7.3-7.4 (the condition of human plasma). The objective of the study was to shift its optimal pH by mutating surface amino acid residues which interact with the general base Tyr78. Based on the crystal structure and the online program GETAREA, we selected five sites: Asn69, Glu72, Glu75, Asn89, and Val90...
March 25, 2017: Applied Biochemistry and Biotechnology
https://www.readbyqxmd.com/read/28334709/micronutrients-essential-fatty-acids-and-bone-health-in-phenylketonuria
#19
Serwet Demirdas, Francjan J van Spronsen, Carla E M Hollak, J Hanneke van der Lee, Peter H Bisschop, Fred M Vaz, Nienke M Ter Horst, M Estela Rubio-Gozalbo, Annet M Bosch
INTRODUCTION: In phenylketonuria (PKU), a natural protein-restricted dietary treatment prevents severe cognitive impairment. Nutrient deficiencies may occur due to strict diet. This study is aimed at evaluating the dietary intake and blood concentrations of micronutrients and essential fatty acids (FA), bone mineral density (BMD) and fracture history in patients on long-term dietary treatment. METHODS: Sixty early diagnosed Dutch patients (aged 1-39 years) were included in a multi-center cross-sectional study...
2017: Annals of Nutrition & Metabolism
https://www.readbyqxmd.com/read/28334366/vcnet-vector-based-gene-co-expression-network-construction-and-its-application-to-rna-seq-data
#20
Zengmiao Wang, Huaying Fang, Nelson Leung-Sang Tang, Minghua Deng
Motivation: Building gene co-expression network (GCN) from gene expression data is an important field of bioinformatic research. Nowadays, RNA-seq data provides high dimensional information to quantify gene expressions in term of read counts for individual exons of genes. Such an increase in the dimension of expression data during the transition from microarray to RNA-seq era made many previous co-expression analysis algorithms based on simple univariate correlation no longer applicable...
March 8, 2017: Bioinformatics
keyword
keyword
14286
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"