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pantothenate kinase

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https://www.readbyqxmd.com/read/28113101/clinical-and-genetic-features-of-pkan-patients-in-a-tertiary-centre-in-turkey
#1
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...
January 15, 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
#2
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
#3
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
#4
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.
December 26, 2016: 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
#5
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
#6
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
#7
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
#8
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...
November 4, 2016: 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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/27516453/coenzyme-a-corrects-pathological-defects-in-human-neurons-of-pank2-associated-neurodegeneration
#13
Daniel I Orellana, Paolo Santambrogio, Alicia Rubio, Latefa Yekhlef, Cinzia Cancellieri, Sabrina Dusi, Serena G Giannelli, Paola Venco, Pietro G Mazzara, Anna Cozzi, Maurizio Ferrari, Barbara Garavaglia, Stefano Taverna, Valeria Tiranti, Vania Broccoli, Sonia Levi
Pantothenate kinase-associated neurodegeneration (PKAN) is an early onset and severely disabling neurodegenerative disease for which no therapy is available. PKAN is caused by mutations in PANK2, which encodes for the mitochondrial enzyme pantothenate kinase 2. Its function is to catalyze the first limiting step of Coenzyme A (CoA) biosynthesis. We generated induced pluripotent stem cells from PKAN patients and showed that their derived neurons exhibited premature death, increased ROS production, mitochondrial dysfunctions-including impairment of mitochondrial iron-dependent biosynthesis-and major membrane excitability defects...
October 4, 2016: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/27446545/novel-homozygous-pank2-mutation-identified-in-a-consanguineous-chinese-pedigree-with-pantothenate-kinase-associated-neurodegeneration
#14
Yan-Fang Li, Hong-Fu Li, Yan-Bin Zhang, Ji-Min Wu
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive neurodegenerative disorder resulting from pantothenate kinase 2 (PANK2) gene mutations. It is clinically characterized by early onset of extrapyramidal symptoms, with or without pigmentary retinopathy, optic atrophy and acanthocytosis. The specific radiographic appearance of PKAN is the eye-of-the-tiger sign. However, there are few studies regarding PKAN patients of Chinese Han ancestry. In the present study, a Chinese 20-year-old female with an 8-year history of unsteady walking and involuntary movements is described...
August 2016: Biomedical Reports
https://www.readbyqxmd.com/read/27322068/a-family-of-metal-dependent-phosphatases-implicated-in-metabolite-damage-control
#15
Lili Huang, Anna Khusnutdinova, Boguslaw Nocek, Greg Brown, Xiaohui Xu, Hong Cui, Pierre Petit, Robert Flick, Rémi Zallot, Kelly Balmant, Michael J Ziemak, John Shanklin, Valérie de Crécy-Lagard, Oliver Fiehn, Jesse F Gregory, Andrzej Joachimiak, Alexei Savchenko, Alexander F Yakunin, Andrew D Hanson
DUF89 family proteins occur widely in both prokaryotes and eukaryotes, but their functions are unknown. Here we define three DUF89 subfamilies (I, II, and III), with subfamily II being split into stand-alone proteins and proteins fused to pantothenate kinase (PanK). We demonstrated that DUF89 proteins have metal-dependent phosphatase activity against reactive phosphoesters or their damaged forms, notably sugar phosphates (subfamilies II and III), phosphopantetheine and its S-sulfonate or sulfonate (subfamily II-PanK fusions), and nucleotides (subfamily I)...
August 2016: Nature Chemical Biology
https://www.readbyqxmd.com/read/27307830/pantothenate-kinase-2-deficiency-a-neurodegeneration-with-brain-iron-accumulation
#16
Muhammad Yousaf, Raghu H Ramakrishnaiah, Chhavi Kaushik, Manoj Kumar, Chetan Chandulal Shah
Pantothenate kinase 2 deficiency (previously known as Hallervorden-Spatz disease) is an unusual metabolic disorder characterized by progressive extrapyramidal dysfunction and dementia. A 27-year-old Caucasian presented with a major depression disorder and social phobia since adolescence. Patient had marked paranoia, auditory hallucinations, extrapyramidal dysfunction, poor memory, and gait abnormality. Laboratory tests including serum copper and ceruloplasmin were all normal. Magnetic resonance imaging (MRI) examination of the brain played an important role in the diagnosis in this patient...
2009: Radiology case reports
https://www.readbyqxmd.com/read/27303611/hallervorden-spatz-syndrome-with-seizures
#17
Sunil Gothwal, Swati Nayan
Hallervorden-Spatz syndrome is a disorder characterized by dystonia, parkinsonism, and iron accumulation in the brain. The disease is caused by mutations in gene encoding pantothenate kinase 2 (PANK2) and patients have pantothenate kinase-associated neurodegeneration. We present an 8-year-old boy with progressive muscle dystonia, neuroregression, frequent fall and multiple injury marks of different stages. Seizures are rare with PANK2. This child had seizure onset at 4 years of age and seizure free on valproate and levetricetam...
April 2016: Basic and Clinical Neuroscience
https://www.readbyqxmd.com/read/27185474/a-novel-gene-mutation-in-pank2-in-a-patient-with-severe-jaw-opening-dystonia
#18
Zuhal Yapici, Nihan Hande Akcakaya, Pinar Tekturk, Sibel Aylin Ugur Iseri, Ugur Ozbek
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare neurodegenerative condition. Major clinical features include progressive dystonia, pigmentary retinopathy, spasticity, and cognitive decline. The typical MRI sign of the disease, known as "eye-of-the-tiger", is what makes differential diagnosis possible. We here describe a 16-year-old male patient with PKAN presenting with severe and sustained jaw-opening dystonia which may be due to heterogeneous etiologies showing poor response to treatment...
September 2016: Brain & Development
https://www.readbyqxmd.com/read/27161115/regulation-of-coenzyme-a-biosynthesis-in-the-hyperthermophilic-bacterium-thermotoga-maritima
#19
Takahiro Shimosaka, Hiroya Tomita, Haruyuki Atomi
UNLABELLED: Regulation of coenzyme A (CoA) biosynthesis in bacteria and eukaryotes occurs through feedback inhibition targeting type I and type II pantothenate kinase (PanK), respectively. In contrast, the activity of type III PanK is not affected by CoA. As the hyperthermophilic bacterium Thermotoga maritima harbors only a single type III PanK (Tm-PanK), here we examined the mechanisms that regulate CoA biosynthesis in this organism. We first examined the enzyme responsible for the ketopantoate reductase (KPR) reaction, which is the target of feedback inhibition in archaea...
July 15, 2016: Journal of Bacteriology
https://www.readbyqxmd.com/read/27043011/identifying-interactions-that-determine-fragment-binding-at-protein-hotspots
#20
Chris J Radoux, Tjelvar S G Olsson, Will R Pitt, Colin R Groom, Tom L Blundell
Locating a ligand-binding site is an important first step in structure-guided drug discovery, but current methods do little to suggest which interactions within a pocket are the most important for binding. Here we illustrate a method that samples atomic hotspots with simple molecular probes to produce fragment hotspot maps. These maps specifically highlight fragment-binding sites and their corresponding pharmacophores. For ligand-bound structures, they provide an intuitive visual guide within the binding site, directing medicinal chemists where to grow the molecule and alerting them to suboptimal interactions within the original hit...
May 12, 2016: Journal of Medicinal Chemistry
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