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https://www.readbyqxmd.com/read/29684050/intronic-pah-gene-mutations-cause-a-splicing-defect-by-a-novel-mechanism-involving-u1snrnp-binding-downstream-of-the-5-splice-site
#1
Ainhoa Martínez-Pizarro, Maja Dembic, Belén Pérez, Brage S Andresen, Lourdes R Desviat
Phenylketonuria (PKU), one of the most common inherited diseases of amino acid metabolism, is caused by mutations in the phenylalanine hydroxylase (PAH) gene. Recently, PAH exon 11 was identified as a vulnerable exon due to a weak 3' splice site, with different exonic mutations affecting exon 11 splicing through disruption of exonic splicing regulatory elements. In this study, we report a novel intron 11 regulatory element, which is involved in exon 11 splicing, as revealed by the investigated pathogenic effect of variants c...
April 23, 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29675588/parenting-a-child-with-phenylketonuria-an-investigation-into-the-factors-that-contribute-to-parental-distress
#2
Olivia Ambler, Emma Medford, Dougal J Hare
Phenylketonuria (PKU) is an inherited metabolic condition that can lead to the onset of intellectual disabilities if not strictly managed through a low-protein diet. Parents are responsible for supervising their child's treatment for PKU, which may impact on their experience of distress. This cross-sectional study aimed to identify the factors that contribute to distress in parents who care for a child with PKU, distinct from parents in the general population. Thirty-eight parents of children and adolescents with PKU and 32 parents in the general population completed the questionnaires measuring parental psychological resilience, child behaviour problems, perceived social support and distress...
April 20, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29671746/spatio-temporal-attention-based-lstm-networks-for-3d-action-recognition-and-detection
#3
Sijie Song, Cuiling Lan, Junliang Xing, Wenjun Zeng, Jiaying Liu
Human action analytics has attracted a lot of attention for decades in computer vision. It is important to extract discriminative spatio-temporal features to model the spatial and temporal evolutions of different actions. In this paper, we propose a spatial and temporal attention model to explore the spatial and temporal discriminative features for human action recognition and detection from skeleton data. We build our networks based on the recurrent neural networks with long short-term memory units. The learned model is capable of selectively focusing on discriminative joints of skeletons within each input frame and paying different levels of attention to the outputs of different frames...
July 2018: IEEE Transactions on Image Processing: a Publication of the IEEE Signal Processing Society
https://www.readbyqxmd.com/read/29661557/a-new-therapy-prevents-intellectual-disability-in-mouse-with-phenylketonuria
#4
Tiziana Pascucci, Luigia Rossi, Marco Colamartino, Claudia Gabucci, Claudia Carducci, Alessandro Valzania, Valeria Sasso, Noemi Bigini, Francesca Pierigè, Maria Teresa Viscomi, Rossella Ventura, Simona Cabib, Mauro Magnani, Stefano Puglisi-Allegra, Vincenzo Leuzzi
Untreated phenylketonuria (PKU) results in severe neurodevelopmental disorders, which can be partially prevented by an early and rigorous limitation of phenylalanine (Phe) intake. Enzyme substitution therapy with recombinant Anabaena variabilis Phe Ammonia Lyase (rAvPAL) proved to be effective in reducing blood Phe levels in preclinical and clinical studies of adults with PKU. Aims of present study were: a) to gather proofs of clinical efficacy of rAvPAL treatment in preventing neurological impairment in an early treated murine model of PKU; b) to test the advantages of an alternative delivering system for rAvPAL such as autologous erythrocytes...
April 7, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29653233/three-novel-variants-p-glu178lys-p-val245met-p-ser250phe-of-the-phenylalanine-hydroxylase-pah-gene-impair-protein-expression-and-function-in-vitro
#5
Yanan Zong, Ning Liu, Shanshan Ma, Ying Bai, Fangxia Guan, Xiangdong Kong
Phenylketonuria (PKU) is the most common inherited metabolic disease, an autosomal recessive disorder affecting >10,000 newborns each year globally. It can be caused by over 1000 different naturally occurring mutations in the phenylalanine hydroxylase (PAH) gene. We analyzed three novel naturally occurring PAH gene variants: p.Glu178Lys (c.532G>A), p.Val245Met (c.733G>A) and p.Ser250Phe (c.749C>T). The mutant effect on the PAH enzyme structure and function was predicted by bioinformatics software...
April 10, 2018: Gene
https://www.readbyqxmd.com/read/29651832/psychological-wellbeing-in-parents-of-children-with-phenylketonuria-and-association-with-treatment-adherence
#6
Lidia Borghi, Elisabetta Salvatici, Giuseppe Banderali, Enrica Riva, Marcello Giovannini, Elena Vegni
BACKGROUND: Phenylketonuria (PKU) is a rare metabolic disorder that leads to severe neurological abnormalities unless early treated with a strict phenylalanine (Phe)-restricted diet. The parents' involvement in PKU management is crucial and could lead to psychological distress; however, few studies have explored the parents' psychological wellbeing. The study aimed to: 1) evaluate the presence of psychological distress and impaired quality of life among parents of children with PKU, assessing the load of the diagnosis and the load of the treatment management; 2) explore the associations with their children's blood-Phe levels...
April 12, 2018: Minerva Pediatrica
https://www.readbyqxmd.com/read/29643539/-construction-of-chemical-information-database-based-on-optical-structure-recognition-technique
#7
C Y Lv, M N Li, L R Zhang, Z M Liu
OBJECTIVE: To create a protocol that could be used to construct chemical information database from scientific literature quickly and automatically. METHODS: Scientific literature, patents and technical reports from different chemical disciplines were collected and stored in PDF format as fundamental datasets. Chemical structures were transformed from published documents and images to machine-readable data by using the name conversion technology and optical structure recognition tool CLiDE...
April 18, 2018: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/29628378/pegvaliase-for-the-treatment-of-phenylketonuria-a-pivotal-double-blind-randomized-discontinuation-phase-3-clinical-trial
#8
Cary O Harding, R Stephen Amato, Mary Stuy, Nicola Longo, Barbara K Burton, John Posner, Haoling H Weng, Markus Merilainen, Zhonghua Gu, Joy Jiang, Jerry Vockley
INTRODUCTION: Pegvaliase is a recombinant Anabaena variabilis phenylalanine ammonia lyase (PAL) enzyme under investigation for treatment of adult phenylketonuria (PKU). This manuscript describes results of a randomized discontinuation trial (RDT) designed to evaluate the effects of pegvaliase treatment on blood phenylalanine (Phe) and neuropsychiatric outcomes in adults with PKU. METHODS: PRISM-2 is a 4-part, Phase 3 study that enrolled adults with PKU receiving pegvaliase treatment (initiated in a prior Phase 2 or Phase 3 study)...
March 18, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29623884/tryptophan-metabolism-utility-of-plasmatic-assay-in-phenylketonuria-a-study-in-6-adult-patients
#9
Lysiane Boulet, Gérard Besson, Patrice Faure, Véronique Ducros, Christelle Corne
Phenylketonuria (PKU, OMIM 261600) is an autosomal recessive inborn error of metabolism caused by a deficiency of the hepatic enzyme phenylalanine hydroxylase (PAH; EC 1.14.16.1). If untreated, the disease leads to an important intellectual disability (IQ <50). Although many facts are common between phenylalanine (Phe) and tryptophan (Trp) metabolism, little is known about Trp metabolism modification in PKU. Our aim was to evaluate the modifications of Trp metabolism in a phenylketonuric population. A monocentric study was conducted between October 2016 and March 2017...
April 1, 2018: Annales de Biologie Clinique
https://www.readbyqxmd.com/read/29617928/define-deep-convolutional-neural-networks-accurately-quantify-intensities-of-transcription-factor-dna-binding-and-facilitate-evaluation-of-functional-non-coding-variants
#10
Meng Wang, Cheng Tai, Weinan E, Liping Wei
The complex system of gene expression is regulated by the cell type-specific binding of transcription factors (TFs) to regulatory elements. Identifying variants that disrupt TF binding and lead to human diseases remains a great challenge. To address this, we implement sequence-based deep learning models that accurately predict the TF binding intensities to given DNA sequences. In addition to accurately classifying TF-DNA binding or unbinding, our models are capable of accurately predicting real-valued TF binding intensities by leveraging large-scale TF ChIP-seq data...
April 2, 2018: Nucleic Acids Research
https://www.readbyqxmd.com/read/29615849/targeting-mglu5-metabotropic-glutamate-receptors-in-the-treatment-of-cognitive-dysfunction-in-a-mouse-model-of-phenylketonuria
#11
Francesca Nardecchia, Rosamaria Orlando, Luisa Iacovelli, Marco Colamartino, Elena Fiori, Vincenzo Leuzzi, Sonia Piccinin, Robert Nistico, Stefano Puglisi-Allegra, Luisa Di Menna, Giuseppe Battaglia, Ferdinando Nicoletti, Tiziana Pascucci
We studied group-I metabotropic glutamate (mGlu) receptors in Pahenu2 (ENU2) mice, which mimic the genetics and neurobiology of human phenylketonuria (PKU), a metabolic disorder characterized, if untreated, by autism, and intellectual disability (ID). Male ENU2 mice showed increased mGlu5 receptor protein levels in the hippocampus and corpus striatum (but not in the prefrontal cortex) whereas the transcript of the mGlu5 receptor was unchanged. No changes in mGlu1 receptor mRNA and protein levels were found in any of the three brain regions of ENU2 mice...
2018: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/29596327/disruption-of-ptps-gene-causing-pale-body-color-and-lethal-phenotype-in-the-silkworm-bombyx-mori
#12
Xiaoling Tong, Pingfeng Liang, Songyuan Wu, Yuanhao Li, Liang Qiao, Hai Hu, Zhonghuai Xiang, Cheng Lu, Fangyin Dai
Phenylketonuria (PKU) is an inborn error of metabolism caused by mutations in the phenylalanine hydroxylase ( PAH ) gene or by defects in the tetrahydrobiopterin (BH4) synthesis pathway. Here, by positional cloning, we report that the 6-pyruvoyl-tetrahydropterin synthase ( PTPS ) gene, encoding a key enzyme of BH4 biosynthesis, is responsible for the alc (albino C) mutation that displays pale body color, head shaking, and eventually lethality after the first molting in silkworm. Compared to wild type, the alc mutant produced more substrates (phenylalanine (Phe) and tyrosine (Tyr)) and generated less DOPA and dopamine...
March 29, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29579554/clinical-and-electrophysiological-findings-in-patients-with-phenylketonuria-and-epilepsy-reflex-features
#13
Senay Yildiz Celik, Nerses Bebek, Candan Gurses, Betul Baykan, Aysen Gokyigit
OBJECTIVE: Phenylketonuria (PKU) is the most common form of amino acid metabolism disorders with autosomal recessive inheritance. The brain damage can be prevented by early diagnosis and a phenylalanine-restricted diet. Untreated or late-treated patients may show mental retardation and other cognitive dysfunctions, as well as motor disability and/or epilepsy. METHODS: Three patients with PKU and epilepsy were recognized to have reflex epileptic features, and there were ten consecutive adult patients with PKU and epilepsy who were evaluated retrospectively...
March 23, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29536443/iseq-web-based-rna-seq-data-analysis-and-visualization
#14
Chao Zhang, Caoqi Fan, Jingbo Gan, Ping Zhu, Lei Kong, Cheng Li
Transcriptome sequencing (RNA-seq) is becoming a standard experimental methodology for genome-wide characterization and quantification of transcripts at single base-pair resolution. However, downstream analysis of massive amount of sequencing data can be prohibitively technical for wet-lab researchers. A functionally integrated and user-friendly platform is required to meet this demand. Here, we present iSeq, an R-based Web server, for RNA-seq data analysis and visualization. iSeq is a streamlined Web-based R application under the Shiny framework, featuring a simple user interface and multiple data analysis modules...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29522466/fluostatins-m-q-featuring-a-6-5-6-6-ring-skeleton-and-high-oxidized-a-rings-from-marine-streptomyces-sp-pku-ma00045
#15
Jing Jin, Xiaoyan Yang, Tan Liu, Hua Xiao, Guiyang Wang, Mengjie Zhou, Fawang Liu, Yingtao Zhang, Dong Liu, Minghua Chen, Wei Cheng, Donghui Yang, Ming Ma
Aromatic polyketides from marine actinomycetes have received increasing attention due to their unusual structures and potent bioactivities. Compared to their terrestrial counterparts, marine aromatic polyketides have been less discovered and their structural and biological diversities are far from being fully investigated. In this study, we employed a PCR-based genome mining method to discover aromatic polyketides in our marine bacteria collection. Five new atypical angucyclinones, fluostatins M-Q ( 1 - 5 ) featuring a unique 6-5-6-6 ring skeleton, were discovered from one "positive" Streptomyces sp...
March 9, 2018: Marine Drugs
https://www.readbyqxmd.com/read/29511574/comparison-of-glycomacropeptide-with-phenylalanine-free-synthetic-amino-acids-in-test-meals-to-pku-patients-no-significant-differences-in-biomarkers-including-plasma-phe-levels
#16
Kirsten K Ahring, Allan M Lund, Erik Jensen, Thomas G Jensen, Karen Brøndum-Nielsen, Michael Pedersen, Allan Bardow, Jens Juul Holst, Jens F Rehfeld, Lisbeth B Møller
Introduction: Management of phenylketonuria (PKU) is achieved through low-phenylalanine (Phe) diet, supplemented with low-protein food and mixture of free-synthetic (FS) amino acid (AA). Casein glycomacropeptide (CGMP) is a natural peptide released in whey during cheese-making and does not contain Phe. Lacprodan® CGMP-20 used in this study contained a small amount of Phe due to minor presence of other proteins/peptides. Objective: The purpose of this study was to compare absorption of CGMP-20 to FSAA with the aim of evaluating short-term effects on plasma AAs as well as biomarkers related to food intake...
2018: Journal of Nutrition and Metabolism
https://www.readbyqxmd.com/read/29502926/phenylketonuric-diet-negatively-impacts-on-butyrate-production
#17
E Verduci, F Moretti, G Bassanini, G Banderali, V Rovelli, M C Casiraghi, G Morace, F Borgo, E Borghi
BACKGROUND AND AIMS: Phenylalanine (Phe) restricted diet, combined with Phe-free l-amino acid supplementation, is the mainstay of treatment for phenylketonuria (PKU). Being the diet a key factor modulating gut microbiota composition, the aim of the present paper was to compare dietary intakes, gut microbiota biodiversity and short chain fatty acids (SCFAs) production in children with PKU, on low-Phe diet, and in children with mild hyperphenylalaninemia (MHP), on unrestricted diet. METHODS AND RESULTS: We enrolled 21 PKU and 21 MHP children matched for gender, age and body mass index z-score...
January 31, 2018: Nutrition, Metabolism, and Cardiovascular Diseases: NMCD
https://www.readbyqxmd.com/read/29490096/metabolomic-markers-of-essential-fatty-acids-carnitine-and-cholesterol-metabolism-in-adults-and-adolescents-with-phenylketonuria
#18
Bridget M Stroup, Nivedita Nair, Sangita G Murali, Katarzyna Broniowska, Fran Rohr, Harvey L Levy, Denise M Ney
Background: Individuals with phenylketonuria (PKU) have a risk of cognitive impairment and inflammation. Many follow a low-phenylalanine (low-Phe) diet devoid of animal protein in combination with medical foods (MFs). Objective: To assess lipid metabolism in participants with PKU consuming amino acid MFs (AA-MFs) or glycomacropeptide MFs (GMP-MFs), we conducted fatty acid and metabolomics analyses. Methods: We used subsets of fasting plasma and urine samples from our randomized crossover trial in which participants with early-treated classical and variant (milder) PKU consumed a low-Phe diet combined with AA-MFs or GMP-MFs for 3 wk each...
February 1, 2018: Journal of Nutrition
https://www.readbyqxmd.com/read/29488825/language-processing-and-executive-functions-in-early-treated-adults-with-phenylketonuria-pku
#19
Sara De Felice, Cristina Romani, Tarekegn Geberhiwot, Anita MacDonald, Liana Palermo
We provide an in-depth analysis of language functions in early-treated adults with phenylketonuria (AwPKUs, N = 15-33), as compared to age- and education-matched controls (N = 24-32; N varying across tasks), through: a. narrative production (the Cinderella story), b. language pragmatics comprehension (humour, metaphors, inferred meaning), c. prosody discrimination d. lexical inhibitory control and planning (Blocked Cyclic Naming; Hayling Sentence Completion Test, Burgess & Shallice, 1997). AwPKUs exhibited intact basic language processing (lexical retrieval, phonology/articulation, sentence construction)...
February 28, 2018: Cognitive Neuropsychology
https://www.readbyqxmd.com/read/29478217/normal-growth-in-pku-patients-under-low-protein-diet-in-a-single-center-cross-sectional-study
#20
Jana Matic, Nina A Zeltner, Johannes Häberle
Dietary phenylalanine restriction in phenylketonuria (PKU) patients is usually mandatory in order to prevent cognitive impairment. The influence of a low-protein diet on growth has raised concerns in families and caregivers. This paper aims to investigate the growth in PKU patients treated with a low-protein diet including supplementation of amino acids and other nutrients according to standard protocols.We performed a single-center, cross-sectional study on growth in pediatric PKU patients (n = 51) treated with low-protein diet over a 20-month period...
February 25, 2018: JIMD Reports
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