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pantothenate kinase

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https://www.readbyqxmd.com/read/28941230/effects-of-rumen-protected-pantothenate-supplementation-on-lactation-performance-ruminal-fermentation-nutrient-digestion-and-blood-metabolites-in-dairy-cows
#1
Wang Cong, Liu Qiang, Li He Qiong, Wu Xiao Xu, Gang Guo, Wen Jie Huo, Pei Cai Xia, Zhang Yan Li, Zhang Shuan Lin
BACKGROUND: Lactation performance of dairy cow has considerably increased with animal breeding and management improvement in recent years. Ruminal net synthesized pantothenic acid is insufficient to meet the requirement of high producing dairy cows. The objective was to investigate the effects of rumen-protected pantothenate (RPP) on lactation performance, ruminal fermentation, nutrient digestion and blood metabolites in dairy cows. RESULTS: Dry matter (DM) intake tended to increase, whereas milk yields, milk fat percentage and yield, body condition score (BCS) changes and net energy output except for maintance increased linearly with increasing RPP supplementation...
September 23, 2017: Journal of the Science of Food and Agriculture
https://www.readbyqxmd.com/read/28900161/acetyl-4-phosphopantetheine-is-stable-in-serum-and-prevents-phenotypes-induced-by-pantothenate-kinase-deficiency
#2
Ivano Di Meo, Cristina Colombelli, Balaji Srinivasan, Marianne de Villiers, Jeffrey Hamada, Suh Y Jeong, Rachel Fox, Randall L Woltjer, Pieter G Tepper, Liza L Lahaye, Emanuela Rizzetto, Clara H Harrs, Theo de Boer, Marianne van der Zwaag, Branko Jenko, Alen Čusak, Jerca Pahor, Gregor Kosec, Nicola A Grzeschik, Susan J Hayflick, Valeria Tiranti, Ody C M Sibon
Coenzyme A is an essential metabolite known for its central role in over one hundred cellular metabolic reactions. In cells, Coenzyme A is synthesized de novo in five enzymatic steps with vitamin B5 as the starting metabolite, phosphorylated by pantothenate kinase. Mutations in the pantothenate kinase 2 gene cause a severe form of neurodegeneration for which no treatment is available. One therapeutic strategy is to generate Coenzyme A precursors downstream of the defective step in the pathway. Here we describe the synthesis, characteristics and in vivo rescue potential of the acetyl-Coenzyme A precursor S-acetyl-4'-phosphopantetheine as a possible treatment for neurodegeneration associated with pantothenate kinase deficiency...
September 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28881514/-phenotypic-and-genotypic-features-of-twenty-children-with-classic-pantothenate-kinase-associated-neurodegeneration
#3
J Zhou, J He, L P Kou, H C Feng, Y H Deng, Z B Zhang, L Zhou, J M Wang, Y W Jiang, Y Wu
Objective: To explore the phenotypic and genotypic characteristics in Chinese children with classic pantothenate kinase-associated neurodegeneration (PKAN). Method: The clinical, radiographic and genetic data of all PKAN patients diagnosed at pediatric department of Peking University First Hospital from November 2006 to December 2016 were retrospectively collected and analyzed. Result: Twenty patients with classic PKAN were included in the study. The median age at onset was 3.5 years (ranging from 1.0 to 10...
September 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28845923/clinical-rating-scale-for-pantothenate-kinase-associated-neurodegeneration-a-pilot-study
#4
Alejandra Darling, Cristina Tello, María Josep Martí, Cristina Garrido, Sergio Aguilera-Albesa, Miguel Tomás Vila, Itziar Gastón, Marcos Madruga, Luis González Gutiérrez, Julio Ramos Lizana, Montserrat Pujol, Tania Gavilán Iglesias, Kylee Tustin, Jean Pierre Lin, Giovanna Zorzi, Nardo Nardocci, Loreto Martorell, Gustavo Lorenzo Sanz, Fuencisla Gutiérrez, Pedro J García, Lidia Vela, Carlos Hernández Lahoz, Juan Darío Ortigoza Escobar, Laura Martí Sánchez, Fradique Moreira, Miguel Coelho, Leonor Correia Guedes, Ana Castro Caldas, Joaquim Ferreira, Paula Pires, Cristina Costa, Paulo Rego, Marina Magalhães, María Stamelou, Daniel Cuadras Pallejà, Carmen Rodríguez-Blazquez, Pablo Martínez-Martín, Vincenzo Lupo, Leonidas Stefanis, Roser Pons, Carmen Espinós, Teresa Temudo, Belén Pérez Dueñas
BACKGROUND: Pantothenate kinase-associated neurodegeneration is a progressive neurological disorder occurring in both childhood and adulthood. The objective of this study was to design and pilot-test a disease-specific clinical rating scale for the assessment of patients with pantothenate kinase-associated neurodegeneration. METHODS: In this international cross-sectional study, patients were examined at the referral centers following a standardized protocol. The motor examination was filmed, allowing 3 independent specialists in movement disorders to analyze 28 patients for interrater reliability assessment...
August 28, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28781879/novel-pank2-mutation-in-the-first-greek-compound-heterozygote-patient-with-pantothenate-kinase-associated-neurodegeneration
#5
George P Paraskevas, Christos Yapijakis, Anastasia Bougea, Vasilios Constantinides, Mara Bourbouli, Eleftherios Stamboulis, Elisabeth Kapaki
Pantothenate-kinase-associated neurodegeneration is the most common autosomal recessive form of neurodegeneration with brain iron accumulation. Less than 100 mutations in PANK2 gene (20p13) are responsible for classic and atypical cases. We report here the first Greek case of atypical pantothenate-kinase-associated neurodegeneration, confirmed by molecular analysis that revealed two trans-acting mutations. Our findings highlight the possible role of rare variants contributing to disease risk and possibly to variable clinical phenotype...
2017: SAGE open medical case reports
https://www.readbyqxmd.com/read/28681788/atypical-pantothenate-kinase-associated-neurodegeneration-with-novel-genetic-mutation
#6
Anil V Israni, Anirban Mandal
No abstract text is available yet for this article.
July 2017: Neurology India
https://www.readbyqxmd.com/read/28680084/a-variation-in-pank2-gene-is-causing-pantothenate-kinase-associated-neurodegeneration-in-a-family-from-jammu-and-kashmir-india
#7
Arshia Angural, Inderpal Singh, Ankit Mahajan, Pranav Pandoh, Manoj K Dhar, Sanjana Kaul, Vijeshwar Verma, Ekta Rai, Sushil Razdan, Kamal Kishore Pandita, Swarkar Sharma
Pantothenate kinase-associated neurodegeneration is a rare hereditary neurodegenerative disorder associated with nucleotide variation(s) in mitochondrial human Pantothenate kinase 2 (hPanK2) protein encoding PANK2 gene, and is characterized by symptoms of extra-pyramidal dysfunction and accumulation of non-heme iron predominantly in the basal ganglia of the brain. In this study, we describe a familial case of PKAN from the State of Jammu and Kashmir (J&K), India based on the clinical findings and genetic screening of two affected siblings born to consanguineous normal parents...
July 5, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28676844/genetic-characterization-of-coenzyme-a-biosynthesis-reveals-essential-distinctive-functions-during-malaria-parasite-development-in-blood-and-mosquito
#8
Robert J Hart, Amanah Abraham, Ahmed S I Aly
Coenzyme A (CoA) is an essential universal cofactor for all prokaryotic and eukaryotic cells. In nearly all non-photosynthetic cells, CoA biosynthesis depends on the uptake and phosphorylation of vitamin B5 (pantothenic acid or pantothenate). Recently, putative pantothenate transporter (PAT) and pantothenate kinases (PanKs) were functionally characterized in P. yoelii. PAT and PanKs were shown to be dispensable for blood stage development, but they were essential for mosquito stages development. Yet, little is known about the cellular functions of the other enzymes of the CoA biosynthesis pathway in malaria parasite life cycle stages...
2017: Frontiers in Cellular and Infection Microbiology
https://www.readbyqxmd.com/read/28629633/atypical-pantothenate-kinase-associated-neurodegeneration-clinical-description-of-two-brothers-and-a-review-of-the-literature
#9
S Mahoui, A Benhaddadi, W Ameur El Khedoud, M Abada Bendib, M Chaouch
Two clinical forms of pantothenate kinase-associated neurodegeneration (PKAN) have been described: typical PKAN and atypical PKAN. Atypical PKAN has later onset and a slower course of disease. This report describes two siblings with the atypical form of PKAN, combining dystonia, irritability and a dysmorphia syndrome. In addition, a review of the literature was carried out for all published cases of atypical PKAN to gather descriptions of its various clinical presentations, age of onset and MRI findings, and to highlight the different treatments used for PKAN patients...
June 16, 2017: Revue Neurologique
https://www.readbyqxmd.com/read/28567317/open-label-fosmetpantotenate-a-phosphopantothenate-replacement-therapy-in-a-single-patient-with-atypical-pkan
#10
Yiolanda-Panayiota Christou, George A Tanteles, Elena Kkolou, Annita Ormiston, Kostas Konstantopoulos, Maria Beconi, Randall D Marshall, Horacio Plotkin, Kleopas A Kleopa
Objective. Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder with variable onset, rate of progression, and phenotypic expression. Later-onset, more slowly progressive PKAN often presents with neuropsychiatric as well as motor manifestations that include speech difficulties, progressive dystonia, rigidity, and parkinsonism. PKAN is caused by biallelic PANK2 mutations, a gene that encodes pantothenate kinase 2, a regulatory enzyme in coenzyme A biosynthesis. Current therapeutic strategies rely on symptomatic relief...
2017: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/28489334/diagnosis-of-copan-by-whole-exome-sequencing-waking-up-a-sleeping-tiger-s-eye
#11
Christina Evers, Angelika Seitz, Birgit Assmann, Thomas Opladen, Stephanie Karch, Katrin Hinderhofer, Martin Granzow, Nagarajan Paramasivam, Roland Eils, Nicolle Diessl, Claus R Bartram, Ute Moog
Neurodegeneration with brain iron accumulation (NBIA) is a group of neurodegenerative disorders characterized by iron accumulation in the basal ganglia. Recently, mutations in CoA synthase (COASY) have been identified as a cause of a novel NBIA subtype (COASY Protein-Associated Neurodegeneration, CoPAN) in two patients with dystonic paraparesis, parkinsonian features, cognitive impairment, behavior abnormalities, and axonal neuropathy. COASY encodes an enzyme required for Coenzyme A (CoA) biosynthesis. Using whole exome sequencing (WES) we identified compound heterozygous COASY mutations in two siblings with intellectual disability, ataxic gait, progressive spasticity, and obsessive-compulsive behavior...
May 10, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28456385/changes-in-red-blood-cell-membrane-lipid-composition-a-new-perspective-into-the-pathogenesis-of-pkan
#12
Manar Aoun, Paola Antonia Corsetto, Guillaume Nugue, Gigliola Montorfano, Emilio Ciusani, David Crouzier, Penelope Hogarth, Allison Gregory, Susan Hayflick, Giovanna Zorzi, Angela Maria Rizzo, Valeria Tiranti
Pantothenate Kinase-Associated Neurodegeneration (PKAN) is a form of Neurodegeneration with Brain Iron Accumulation (NBIA) associated with mutations in the pantothenate kinase 2 gene (PANK2). The PANK2 catalyzes the first step of coenzyme A (CoA) biosynthesis, a pathway producing an essential cofactor that plays a key role in energy and lipid metabolism. The majority of PANK2 mutations reduces or abolishes the activity of the enzyme. In around 10% of cases with PKAN, the presence of deformed red blood cells with thorny protrusions in the circulation has been detected...
April 18, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28437604/antiplasmodial-mode-of-action-of-pantothenamides-pantothenate-kinase-serves-as-a-metabolic-activator-not-as-a-target
#13
Marianne de Villiers, Christina Spry, Cristiano J Macuamule, Leanne Barnard, Gordon Wells, Kevin J Saliba, Erick Strauss
N-Substituted pantothenamides (PanAms) are pantothenate analogues with up to nanomolar potency against blood-stage Plasmodium falciparum (the most virulent species responsible for malaria). Although these compounds are known to target coenzyme A (CoA) biosynthesis and/or utilization, their exact mode of action (MoA) is still unknown. Importantly, PanAms that retain the natural β-alanine moiety are more potent than other variants, consistent with the involvement of processes that are selective for pantothenate (the precursor of CoA) or its derivatives...
July 14, 2017: ACS Infectious Diseases
https://www.readbyqxmd.com/read/28416789/pantothenate-kinase-associated-neurodegeneration
#14
Khalid Hundallah, Afnan Al Hakeem
No abstract text is available yet for this article.
April 2017: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
https://www.readbyqxmd.com/read/28386418/protein-interaction-networks-at-the-host-microbe-interface-in-diaphorina-citri-the-insect-vector-of-the-citrus-greening-pathogen
#15
J S Ramsey, J D Chavez, R Johnson, S Hosseinzadeh, J E Mahoney, J P Mohr, F Robison, X Zhong, D G Hall, M MacCoss, J Bruce, M Cilia
The Asian citrus psyllid (Diaphorina citri) is the insect vector responsible for the worldwide spread of 'Candidatus Liberibacter asiaticus' (CLas), the bacterial pathogen associated with citrus greening disease. Developmental changes in the insect vector impact pathogen transmission, such that D. citri transmission of CLas is more efficient when bacteria are acquired by nymphs when compared with adults. We hypothesize that expression changes in the D. citri immune system and commensal microbiota occur during development and regulate vector competency...
February 2017: Royal Society Open Science
https://www.readbyqxmd.com/read/28239413/improving-acetyl-coa-biosynthesis-in-saccharomyces-cerevisiae-via-the-overexpression-of-pantothenate-kinase-and-pdh-bypass
#16
Wenshan Liu, Bo Zhang, Rongrong Jiang
BACKGROUND: Acetyl-CoA is an important precursor in Saccharomyces cerevisiae. Various approaches have been adopted to improve its cytosolic level previously with the emphasis on engineering the "acetyl-" part of acetyl-CoA. To the best of our knowledge, there have been no reports on engineering the "-CoA" part so far. RESULTS: In this study, we had tried to engineer S. cerevisiae from both the "-CoA" part via pantothenate kinase overexpression (PanK from S. cerevisiae, the rate-limiting enzyme for CoA synthesis) and the "acetyl-"part through PDH bypass introduction (ALD6 from S...
2017: Biotechnology for Biofuels
https://www.readbyqxmd.com/read/28113101/clinical-and-genetic-features-of-pkan-patients-in-a-tertiary-centre-in-turkey
#17
Nihan Hande Akcakaya, Sibel Ugur Iseri, Birdal Bilir, Esra Battaloglu, Pinar Tekturk, Murat Gultekin, Gokcen Akar, Remzi Yigiter, Hasmet Hanagasi, Recep Alp, Sultan Cagirici, Mefkure Eraksoy, Ugur Ozbek, Zuhal Yapici
OBJECTIVE: Pantothenate kinase-associated neurodegeneration (PKAN) is caused by mutations of the pantothenate kinase 2 (PANK2) gene. The major clinical sign of PKAN is dystonia and the eye-of-the-tiger pattern on the MRI has been a clue for the diagnosis. We aim to discuss clinical and genetic findings of 22 PKAN patients from 13 families. METHODS: Twenty-two patients were clinically diagnosed with PKAN and screened for PANK2 mutations. The patients were classified according to their onset age and progression rate...
March 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28109598/identification-and-analysis-of-the-expression-of-microrna-from-lactating-and-nonlactating-mammary-glands-of-the-chinese-swamp-buffalo
#18
REVIEW
Xiaoyan Cai, Qingyou Liu, Xiaoxi Zhang, Yanping Ren, Xiaocan Lei, Sheng Li, Qiuping Chen, Kai Deng, Ping Wang, Haihang Zhang, Deshun Shi
To study the role of microRNA (miR) in the lactation physiology of water buffalo, 2 multiparous dairy buffaloes (including an 8-yr-old buffalo that had been lactating for 3 mo, as well as a 10-yr-old nonlactating, nonpregnant buffalo) were used for miR library construction. The profile of differentially expressed miR in lactating and nonlactating mammary gland tissues of these water buffalo were investigated using Illumina-Solexa high-throughput sequencing technology (Illumina, San Diego, CA). The data identified 259 miR families, 359 mature miR, 363 pre-miR, 230 novel buffalo miR, and 5 buffalo-specific miR that were expressed in mammary tissues...
March 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/28055131/subthalamic-nuclei-stimulation-in-patients-with-pantothenate-kinase-associated-neurodegeneration-pkan
#19
Ziyuan Liu, Yang Liu, Yingmai Yang, Lin Wang, Wanchen Dou, Jinzhu Guo, Yu Wang, Yi Guo, Xinhua Wan, Wenbin Ma, Renzhi Wang
INTRODUCTION: Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive genetic disease that leads to extrapyramidal symptoms, such as dystonia, ataxia, dysarthria, and involuntary movements. Treatment of PKAN with deep brain stimulation (DBS) has been reported, but mainly focuses on targeting the globus pallidus internus (GPi). Subthalamic nuclei (STN) may also be a potential target for treatment of PKAN. METHODS: In this study, we reviewed three patients with PKAN (two with typical PKAN and one with atypical PKAN) treated by bilateral STN stimulation and present a review of the literature...
July 2017: Neuromodulation: Journal of the International Neuromodulation Society
https://www.readbyqxmd.com/read/28034613/consensus-clinical-management-guideline-for-pantothenate-kinase-associated-neurodegeneration-pkan
#20
Penelope Hogarth, Manju A Kurian, Allison Gregory, Barbara Csányi, Tamara Zagustin, Tomasz Kmiec, Patricia Wood, Angelika Klucken, Natale Scalise, Francesca Sofia, Thomas Klopstock, Giovanna Zorzi, Nardo Nardocci, Susan J Hayflick
No abstract text is available yet for this article.
March 2017: Molecular Genetics and Metabolism
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