| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Chiara Cavestro, Daria Diodato, Valeria Tiranti, Ivano Di Me. Inherited Disorders of Coenzyme A Biosynthesis: Models, Mechanisms, and Treatments. International journal of molecular sciences. vol 24. issue 6. 2023-03-29. PMID:36983025. |
the first and last enzymes catalyzing the coa biosynthetic pathway are associated with two neurological conditions, namely pantothenate kinase-associated neurodegeneration (pkan) and coasy protein-associated neurodegeneration (copan), which belong to the heterogeneous group of neurodegenerations with brain iron accumulation (nbia), while the second and third enzymes are linked to a rapidly fatal dilated cardiomyopathy. |
2023-03-29 |
2023-08-14 |
human |
| Luca Mignani, Daniela Zizioli, Deepak Khatri, Nicola Facchinello, Marco Schiavone, Giuseppe De Palma, Dario Finazz. Bi-Allelic Mutations in Zebrafish International journal of molecular sciences. vol 23. issue 21. 2022-11-11. PMID:36361705. |
sequence variations in pantothenate kinase 2 (pank2), the first enzyme of coa biosynthesis, are found in patients affected by pantothenate kinase associated neurodegeneration (pkan), one of the most common forms of neurodegeneration, with brain iron accumulation. |
2022-11-11 |
2023-08-14 |
zebrafish |
| Susan J Hayflick, Suh Young Jeong, Ody C M Sibo. PKAN pathogenesis and treatment. Molecular genetics and metabolism. vol 137. issue 3. 2022-10-14. PMID:36240582. |
studies aimed at supporting different treatment approaches for pantothenate kinase-associated neurodegeneration (pkan) have revealed the complexity of coenzyme a (coa) metabolism and the limits of our current knowledge about disease pathogenesis. |
2022-10-14 |
2023-08-14 |
Not clear |
| Yunpeng Huang, Zhihui Wan, Yinglu Tang, Junxuan Xu, Bretton Laboret, Sree Nallamothu, Chenyu Yang, Boxiang Liu, Rongze Olivia Lu, Bingwei Lu, Juan Feng, Jing Cao, Susan Hayflick, Zhihao Wu, Bing Zho. Pantothenate kinase 2 interacts with PINK1 to regulate mitochondrial quality control via acetyl-CoA metabolism. Nature communications. vol 13. issue 1. 2022-05-03. PMID:35504872. |
pantothenate kinase-associated neurodegeneration (pkan) is caused by mutations in the human pank2 gene, which catalyzes the initial step of de novo coa synthesis. |
2022-05-03 |
2023-08-13 |
human |
| Konrad J Mostert, Nandini Sharma, Marianne van der Zwaag, Roxine Staats, Lizbé Koekemoer, Ruchi Anand, Ody C M Sibon, Erick Straus. The Coenzyme A Level Modulator Hopantenate (HoPan) Inhibits Phosphopantotenoylcysteine Synthetase Activity. ACS chemical biology. vol 16. issue 11. 2021-11-23. PMID:34582681. |
the pantothenate analogue hopantenate (hopan) is widely used as a modulator of coenzyme a (coa) levels in cell biology and disease models─especially for pantothenate kinase associated neurodegeneration (pkan), a genetic disease rooted in impaired coa metabolism. |
2021-11-23 |
2023-08-13 |
Not clear |
| Laura Orsatti, Maria Vittoria Orsale, Pamela di Pasquale, Andrea Vecchi, Fabrizio Colaceci, Alina Ciammaichella, Ilaria Rossetti, Fabio Bonelli, Karsten Baumgaertel, Kai Liu, Daniel Elbaum, Edith Monteagud. Turnover rate of coenzyme A in mouse brain and liver. PloS one. vol 16. issue 5. 2021-10-21. PMID:34019583. |
altered coa metabolism results in severe conditions such as pantothenate kinase-associated neurodegeneration (pkan) in which a reduction of the activity of pantothenate kinase isoform 2 (pank2) present in coa biosynthesis in the brain consequently lowers the level of coa in this organ. |
2021-10-21 |
2023-08-13 |
mouse |
| Ivano Di Meo, Chiara Cavestro, Silvia Pedretti, Tingting Fu, Simona Ligorio, Antonello Manocchio, Lucrezia Lavermicocca, Paolo Santambrogio, Maddalena Ripamonti, Sonia Levi, Sophie Ayciriex, Nico Mitro, Valeria Tirant. Neuronal Ablation of CoA Synthase Causes Motor Deficits, Iron Dyshomeostasis, and Mitochondrial Dysfunctions in a CoPAN Mouse Model. International journal of molecular sciences. vol 21. issue 24. 2021-04-01. PMID:33352696. |
coasy protein-associated neurodegeneration (copan) is a rare but devastating genetic autosomal recessive disorder of inborn error of coa metabolism, which shares with pantothenate kinase-associated neurodegeneration (pkan) similar features, such as dystonia, parkinsonian traits, cognitive impairment, axonal neuropathy, and brain iron accumulation. |
2021-04-01 |
2023-08-13 |
mouse |
| Giulio Auciello, Annalise Di Marco, Odalys Gonzalez Paz, Savina Malancona, Steven Harper, Maria Beconi, Ilaria Rossetti, Alina Ciammaichella, Paola Fezzardi, Andrea Vecchi, Elena Bracacel, Daniel Cicero, Edith Monteagudo, Daniel Elbau. Cyclic Phosphopantothenic Acid Prodrugs for Treatment of Pantothenate Kinase-Associated Neurodegeneration. Journal of medicinal chemistry. vol 63. issue 24. 2021-02-02. PMID:33320012. |
mutations in the human pank2 gene are implicated in neurodegenerative diseases such as pantothenate kinase-associated neurodegeneration (pkan) and result in low levels of coenzyme-a (coa) in the cns due to impaired production of phosphopantothenic acid (ppa) from vitamin b5. |
2021-02-02 |
2023-08-13 |
human |
| Chitra Subramanian, Jiangwei Yao, Matthew W Frank, Charles O Rock, Suzanne Jackowsk. A pantothenate kinase-deficient mouse model reveals a gene expression program associated with brain coenzyme a reduction. Biochimica et biophysica acta. Molecular basis of disease. vol 1866. issue 5. 2020-10-27. PMID:31918006. |
the differential expression of the four-active mammalian pank isoforms regulates coa levels in different tissues and pank2 mutations lead to pantothenate kinase associated neurodegeneration (pkan). |
2020-10-27 |
2023-08-13 |
mouse |
| Suh Young Jeong, Penelope Hogarth, Andrew Placzek, Allison M Gregory, Rachel Fox, Dolly Zhen, Jeffrey Hamada, Marianne van der Zwaag, Roald Lambrechts, Haihong Jin, Aaron Nilsen, Jared Cobb, Thao Pham, Nora Gray, Martina Ralle, Megan Duffy, Leila Schwanemann, Puneet Rai, Alison Freed, Katrina Wakeman, Randall L Woltjer, Ody Cm Sibon, Susan J Hayflic. 4'-Phosphopantetheine corrects CoA, iron, and dopamine metabolic defects in mammalian models of PKAN. EMBO molecular medicine. vol 11. issue 12. 2020-04-27. PMID:31660701. |
pantothenate kinase-associated neurodegeneration (pkan) is an inborn error of coa metabolism causing dystonia, parkinsonism, and brain iron accumulation. |
2020-04-27 |
2023-08-13 |
mouse |
| Ivano Di Meo, Miryam Carecchio, Valeria Tirant. Inborn errors of coenzyme A metabolism and neurodegeneration. Journal of inherited metabolic disease. vol 42. issue 1. 2020-04-01. PMID:30740736. |
pantothenate kinase-associated neurodegeneration (pkan), an autosomal recessive disorder with progressive impairment of movement, vision and cognition, is the most common form of nbia and is caused by mutations in the pantothenate kinase 2 gene (pank2), coding for a mitochondrial enzyme, which phosphorylates vitamin b5 in the first reaction of the coa biosynthetic pathway. |
2020-04-01 |
2023-08-13 |
Not clear |
| Mónica Álvarez-Córdoba, Aida Fernández Khoury, Marina Villanueva-Paz, Carmen Gómez-Navarro, Irene Villalón-García, Juan M Suárez-Rivero, Suleva Povea-Cabello, Mario de la Mata, David Cotán, Marta Talaverón-Rey, Antonio J Pérez-Pulido, Joaquín J Salas, Eva Mª Pérez-Villegas, Antonio Díaz-Quintana, José A Armengol, José A Sánchez-Alcáza. Pantothenate Rescues Iron Accumulation in Pantothenate Kinase-Associated Neurodegeneration Depending on the Type of Mutation. Molecular neurobiology. vol 56. issue 5. 2019-08-13. PMID:30173408. |
the most prevalent form of nbia is pantothenate kinase-associated neurodegeneration (pkan) associated with mutations in the gene of pantothenate kinase 2 (pank2), which is essential for coenzyme a (coa) synthesis. |
2019-08-13 |
2023-08-13 |
Not clear |
| Daniela Zizioli, Natascia Tiso, Adele Guglielmi, Claudia Saraceno, Giorgia Busolin, Roberta Giuliani, Deepak Khatri, Eugenio Monti, Giuseppe Borsani, Francesco Argenton, Dario Finazz. Knock-down of pantothenate kinase 2 severely affects the development of the nervous and vascular system in zebrafish, providing new insights into PKAN disease. Neurobiology of disease. vol 85. 2016-09-21. PMID:26476142. |
pantothenate kinase associated neurodegeneration (pkan) is an autosomal recessive disorder with mutations in the pantothenate kinase 2 gene (pank2), encoding an essential enzyme for coenzyme a (coa) biosynthesis. |
2016-09-21 |
2023-08-13 |
zebrafish |
| Susan J Hayflic. Defective pantothenate metabolism and neurodegeneration. Biochemical Society transactions. vol 42. issue 4. 2015-05-11. PMID:25110003. |
pkan (pantothenate kinase-associated neurodegeneration) manifests with damage to brain, retina and testis and is caused by mutations in pank2, the gene encoding the mitochondrial form of pantothenate kinase, a key regulatory enzyme in coa synthesis. |
2015-05-11 |
2023-08-13 |
mouse |
| Floris Bosveld, Anil Rana, Petra E van der Wouden, Willy Lemstra, Martha Ritsema, Harm H Kampinga, Ody C M Sibo. De novo CoA biosynthesis is required to maintain DNA integrity during development of the Drosophila nervous system. Human molecular genetics. vol 17. issue 13. 2008-07-23. PMID:18407920. |
in humans, mutations in the pank2 gene, the first enzyme in the coa synthesis route, are associated with pantothenate kinase-associated neurodegeneration. |
2008-07-23 |
2023-08-12 |
drosophila_melanogaster |