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pantothenate kinase

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https://www.readbyqxmd.com/read/28629633/atypical-pantothenate-kinase-associated-neurodegeneration-clinical-description-of-two-brothers-and-a-review-of-the-literature
#1
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
#2
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
#3
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
#4
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
#5
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...
May 4, 2017: ACS Infectious Diseases
https://www.readbyqxmd.com/read/28416789/pantothenate-kinase-associated-neurodegeneration
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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...
January 5, 2017: Neuromodulation: Journal of the International Neuromodulation Society
https://www.readbyqxmd.com/read/28034613/consensus-clinical-management-guideline-for-pantothenate-kinase-associated-neurodegeneration-pkan
#12
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
https://www.readbyqxmd.com/read/27924150/increasing-n-butanol-production-with-saccharomyces-cerevisiae-by-optimizing-acetyl-coa-synthesis-nadh-levels-and-trans-2-enoyl-coa-reductase-expression
#13
Virginia Schadeweg, Eckhard Boles
BACKGROUND: n-Butanol can serve as an excellent gasoline substitute. Naturally, it is produced by some Clostridia species which, however, exhibit only limited suitability for industrial n-butanol production. The yeast Saccharomyces cerevisiae would be an ideal host due to its high robustness in fermentation processes. Nevertheless, n-butanol yields and titers obtained so far with genetically engineered yeast strains are only low. RESULTS: In our recent work, we showed that n-butanol production via a clostridial acetoacetyl-CoA-derived pathway in engineered yeast was limited by the availability of coenzyme A (CoA) and cytosolic acetyl-CoA...
2016: Biotechnology for Biofuels
https://www.readbyqxmd.com/read/27892483/down-regulation-of-coasy-the-gene-associated-with-nbia-vi-reduces-bmp-signaling-perturbs-dorso-ventral-patterning-and-alters-neuronal-development-in-zebrafish
#14
Deepak Khatri, Daniela Zizioli, Natascia Tiso, Nicola Facchinello, Sara Vezzoli, Alessandra Gianoncelli, Maurizio Memo, Eugenio Monti, Giuseppe Borsani, Dario Finazzi
Mutations in Pantothenate kinase 2 and Coenzyme A (CoA) synthase (COASY), genes involved in CoA biosynthesis, are associated with rare neurodegenerative disorders with brain iron accumulation. We showed that zebrafish pank2 gene plays an essential role in brain and vasculature development. Now we extended our study to coasy. The gene has high level of sequence identity with the human ortholog and is ubiquitously expressed from the earliest stages of development. The abrogation of its expression led to strong reduction of CoA content, high lethality and a phenotype resembling to that of dorsalized mutants...
November 28, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27855724/biological-characterization-of-chemically-diverse-compounds-targeting-the-plasmodium-falciparum-coenzyme-a-synthesis-pathway
#15
Sabine Fletcher, Leonardo Lucantoni, Melissa L Sykes, Amy J Jones, John P Holleran, Kevin J Saliba, Vicky M Avery
BACKGROUND: In the fight against malaria, the discovery of chemical compounds with a novel mode of action and/or chemistry distinct from currently used drugs is vital to counteract the parasite's known ability to develop drug resistance. Another desirable aspect is efficacy against gametocytes, the sexual developmental stage of the parasite which enables the transmission through Anopheles vectors. Using a chemical rescue approach, we previously identified compounds targeting Plasmodium falciparum coenzyme A (CoA) synthesis or utilization, a promising target that has not yet been exploited in anti-malarial drug development...
November 17, 2016: Parasites & Vectors
https://www.readbyqxmd.com/read/27815806/first-successful-trial-of-preimplantation-genetic-diagnosis-for-pantothenate-kinase-associated-neurodegeneration
#16
Objoon Trachoo, Chonthicha Satirapod, Bhakbhoom Panthan, Matchuporn Sukprasert, Angkana Charoenyingwattana, Wasun Chantratita, Wicharn Choktanasiri, Suradej Hongeng
PURPOSE: We aim to present a case of a healthy infant born after intracytoplasmic sperm injection-in vitro fertilization (ICSI-IVF) with a preimplantation genetic diagnosis (PGD) for pantothenate kinase-associated neurodegeneration (PKAN) due to PANK2 mutation. METHODS: ICSI-IVF was performed on a Thai couple, 34-year-old female and 33-year-old male, with a family history of PKAN in their first child. Following fertilization, each of the embryos were biopsied in the cleavage stage and subsequently processed for whole-genome amplification...
January 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/27759386/discovery-of-potent-pantothenamide-inhibitors-of-staphylococcus-aureus-pantothenate-kinase-through-a-minimal-sar-study-inhibition-is-due-to-trapping-of-the-product
#17
Scott J Hughes, Leanne Barnard, Katayoun Mottaghi, Wolfram Tempel, Tetyana Antoshchenko, Bum Soo Hong, Abdellah Allali-Hassani, David Smil, Masoud Vedadi, Erick Strauss, Hee-Won Park
The potent antistaphylococcal activity of N-substituted pantothenamides (PanAms) has been shown to at least partially be due to the inhibition of Staphylococcus aureus's atypical type II pantothenate kinase (SaPanKII), the first enzyme of coenzyme A biosynthesis. This mechanism of action follows from SaPanKII having a binding mode for PanAms that is distinct from those of other PanKs. To dissect the molecular interactions responsible for PanAm inhibitory activity, we conducted a mini SAR study in tandem with the cocrystallization of SaPanKII with two classic PanAms (N5-Pan and N7-Pan), culminating in the synthesis and characterization of two new PanAms, N-Pip-PanAm and MeO-N5-PanAm...
September 9, 2016: ACS Infectious Diseases
https://www.readbyqxmd.com/read/27645235/triazole-substitution-of-a-labile-amide-bond-stabilizes-pantothenamides-and-improves-their-antiplasmodial-potency
#18
Vanessa M Howieson, Elisa Tran, Annabelle Hoegl, Han Ling Fam, Jonathan Fu, Kate Sivonen, Xiao Xuan Li, Karine Auclair, Kevin J Saliba
The biosynthesis of coenzyme A (CoA) from pantothenate and the utilization of CoA in essential biochemical pathways represent promising antimalarial drug targets. Pantothenamides, amide derivatives of pantothenate, have potential as antimalarials, but a serum enzyme called pantetheinase degrades pantothenamides, rendering them inactive in vivo In this study, we characterize a series of 19 compounds that mimic pantothenamides with a stable triazole group instead of the labile amide. Two of these pantothenamides are active against the intraerythrocytic stage parasite with 50% inhibitory concentrations (IC50s) of ∼50 nM, and three others have submicromolar IC50s...
December 2016: Antimicrobial Agents and Chemotherapy
https://www.readbyqxmd.com/read/27644319/genetic-characterization-of-plasmodium-putative-pantothenate-kinase-genes-reveals-their-essential-role-in-malaria-parasite-transmission-to-the-mosquito
#19
Robert J Hart, Emmanuel Cornillot, Amanah Abraham, Emily Molina, Catherine S Nation, Choukri Ben Mamoun, Ahmed S I Aly
The metabolic machinery for the biosynthesis of Coenzyme A (CoA) from exogenous pantothenic acid (Vitamin B5) has long been considered as an excellent target for the development of selective antimicrobials. Earlier studies in the human malaria parasite Plasmodium falciparum have shown that pantothenate analogs interfere with pantothenate phosphorylation and block asexual blood stage development. Although two eukaryotic-type putative pantothenate kinase genes (PanK1 and PanK2) have been identified in all malaria parasite species, their role in the development of Plasmodium life cycle stages remains unknown...
September 20, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27555321/allosteric-regulation-of-mammalian-pantothenate-kinase
#20
Chitra Subramanian, Mi-Kyung Yun, Jiangwei Yao, Lalit Kumar Sharma, Richard E Lee, Stephen W White, Suzanne Jackowski, Charles O Rock
Pantothenate kinase is the master regulator of CoA biosynthesis and is feedback-inhibited by acetyl-CoA. Comparison of the human PANK3·acetyl-CoA complex to the structures of PANK3 in four catalytically relevant complexes, 5'-adenylyl-β,γ-imidodiphosphate (AMPPNP)·Mg(2+), AMPPNP·Mg(2+)·pantothenate, ADP·Mg(2+)·phosphopantothenate, and AMP phosphoramidate (AMPPN)·Mg(2+), revealed a large conformational change in the dimeric enzyme. The amino-terminal nucleotide binding domain rotates to close the active site, and this allows the P-loop to engage ATP and facilitates required substrate/product interactions at the active site...
October 14, 2016: Journal of Biological Chemistry
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