Reference on EC 2.7.1.33 - pantothenate kinase and Organism(s) Homo sapiens and UniProt Accession Q9BZ23
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AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
Johnson, M.A.; Kuo, Y.M.; Westaway, S.K.; Parker, S.M.; Ching, K.H.; Gitschier, J.; Hayflick, S.J.
Mitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase-associated neurodegeneration
Ann. N. Y. Acad. Sci.
1012
282-298
2004
Homo sapiens (Q9BZ23), Homo sapiens
Spry, C.; Chai, C.L.; Kirk, K.; Saliba, K.J.
A class of pantothenic acid analogs inhibits Plasmodium falciparum pantothenate kinase and represses the proliferation of malaria parasites
Antimicrob. Agents Chemother.
49
4649-4657
2005
Homo sapiens, Plasmodium falciparum
Zhang, Y.M.; Rock, C.O.; Jackowski, S.
Biochemical properties of human pantothenate kinase 2 isoforms and mutations linked to pantothenate kinase-associated neurodegeneration
J. Biol. Chem.
281
107-114
2006
Homo sapiens
Kotzbauer, P.T.; Truax, A.C.; Trojanowski, J.Q.; Lee, V.M.
Altered neuronal mitochondrial coenzyme A synthesis in neurodegeneration with brain iron accumulation caused by abnormal processing, stability, and catalytic activity of mutant pantothenate kinase 2
J. Neurosci.
25
689-698
2005
Homo sapiens
Hartig, M.B.; Hoertnagel, K.; Garavaglia, B.; Zorzi, G.; Kmiec, T.; Klopstock, T.; Rostasy, K.; Svetel, M.; Kostic, V.S.; Schuelke, M.; Botz, E.; Weindl, A.; Novakovic, I.; Nardocci, N.; Prokisch, H.; Meitinger, T.
Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation
Ann. Neurol.
59
248-256
2006
Homo sapiens (Q9BZ23), Homo sapiens
Leonardi, R.; Rock, C.O.; Jackowski, S.; Zhang, Y.M.
Activation of human mitochondrial pantothenate kinase 2 by palmitoylcarnitine
Proc. Natl. Acad. Sci. USA
104
1494-1499
2007
Homo sapiens, Homo sapiens (Q9BZ23)
Clement, F.; Devos, D.; Moreau, C.; Coubes, P.; Destee, A.; Defebvre, L.
Neurodegeneration with brain iron accumulation: clinical, radiographic and genetic heterogeneity and corresponding therapeutic options
Acta Neurol. Belg.
107
26-31
2007
Homo sapiens
Isaac, C.; Wright, I.; Bhattacharyya, D.; Baxter, P.; Rowe, J.
Pallidal stimulation for pantothenate kinase-associated neurodegeneration dystonia
Arch. Dis. Child.
93
239-240
2008
Homo sapiens
Mikati, M.A.; Yehya, A.; Darwish, H.; Karam, P.; Comair, Y.
Deep brain stimulation as a mode of treatment of early onset pantothenate kinase-associated neurodegeneration
Eur. J. Paediatr. Neurol.
13
61-64
2008
Homo sapiens
Leonardi, R.; Zhang, Y.M.; Lykidis, A.; Rock, C.O.; Jackowski, S.
Localization and regulation of mouse pantothenate kinase 2
FEBS Lett.
581
4639-4644
2007
Homo sapiens, Mus musculus
Chan, K.Y.; Lam, C.W.; Lee, L.P.; Tong, S.F.; Yuen, Y.P.
Pantothenate kinase-associated neurodegeneration in two Chinese children: identification of a novel PANK2 gene mutation
Hong Kong Med. J.
14
70-73
2008
Homo sapiens
Hong, B.S.; Senisterra, G.; Rabeh, W.M.; Vedadi, M.; Leonardi, R.; Zhang, Y.M.; Rock, C.O.; Jackowski, S.; Park, H.W.
Crystal structures of human pantothenate kinases. Insights into allosteric regulation and mutations linked to a neurodegeneration disorder
J. Biol. Chem.
282
27984-27993
2007
Homo sapiens (Q8TE04), Homo sapiens (Q9H999), Homo sapiens
Kazek, B.; Jamroz, E.; Gencik, M.; Jezela Stanek, A.; Marszal, E.; Wojaczynska-Stanek, K.
A novel PANK2 gene mutation: clinical and molecular characteristics of patients short communication
J. Child Neurol.
22
1256-1259
2007
Homo sapiens
Freeman, K.; Gregory, A.; Turner, A.; Blasco, P.; Hogarth, P.; Hayflick, S.
Intellectual and adaptive behaviour functioning in pantothenate kinase-associated neurodegeneration
J. Intellect. Disabil. Res.
51
417-426
2007
Homo sapiens
Wilfred, B.R.; Wang, W.X.; Nelson, P.T.
Energizing miRNA research: a review of the role of miRNAs in lipid metabolism, with a prediction that miR-103/107 regulates human metabolic pathways
Mol. Genet. Metab.
91
209-217
2007
Homo sapiens
Lyoo, C.H.; Prokisch, H.; Meitinger, T.; Lee, S.Y.; Kim, d.o..H.; Lee, M.S.
Anticholinergic-responsive gait freezing in a patient with pantothenate kinase-associated neurodegeneration
Mov. Disord.
23
283-284
2008
Homo sapiens
Schneider, S.A.; Walker, R.H.; Bhatia, K.P.
The Huntingtons disease-like syndromes: what to consider in patients with a negative Huntingtons disease gene test
Nat. Clin. Pract. Neurol.
3
517-525
2007
Homo sapiens, Homo sapiens (Q9BZ23)
McNeill, A.; Birchall, D.; Hayflick, S.J.; Gregory, A.; Schenk, J.F.; Zimmerman, E.A.; Shang, H.; Miyajima, H.; Chinnery, P.F.
T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation
Neurology
70
1614-1619
2008
Homo sapiens
Saleheen, D.; Ali, T.; Aly, Z.; Khealani, B.; Frossard, P.M.
Novel mutation in the PANK2 gene leads to pantothenate kinase-associated neurodegeneration in a Pakistani family
Pediatr. Neurol.
37
296-298
2007
Homo sapiens
Shields, D.C.; Sharma, N.; Gale, J.T.; Eskandar, E.N.
Pallidal stimulation for dystonia in pantothenate kinase-associated neurodegeneration
Pediatr. Neurol.
37
442-445
2007
Homo sapiens
Wong, R.W.; Richa, D.C.; Hahn, P.; Green, W.R.; Dunaief, J.L.
Iron toxicity as a potential factor in AMD
Retina (Philadelphia, Pa. )
27
997-1003
2007
Homo sapiens
Wu, Z.; Li, C.; Lv, S.; Zhou, B.
Pantothenate kinase-associated neurodegeneration: insights from a Drosophila model
Hum. Mol. Genet.
18
3659-3672
2009
Drosophila melanogaster, Homo sapiens (Q9BZ23), Homo sapiens
Doi, H.; Koyano, S.; Miyatake, S.; Matsumoto, N.; Kameda, T.; Tomita, A.; Miyaji, Y.; Suzuki, Y.; Sawaishi, Y.; Kuroiwa, Y.
Siblings with the adult-onset slowly progressive type of pantothenate kinase-associated neurodegeneration and a novel mutation, Ile346Ser, in PANK2: Clinical features and (99m)Tc-ECD brain perfusion SPECT findings
J. Neurol. Sci.
290
172-176
2009
Homo sapiens
Leonardi, R.; Zhang, Y.M.; Yun, M.K.; Zhou, R.; Zeng, F.Y.; Lin, W.; Cui, J.; Chen, T.; Rock, C.O.; White, S.W.; Jackowski, S.
Modulation of pantothenate kinase 3 activity by small molecules that interact with the substrate/allosteric regulatory domain
Chem. Biol.
17
892-902
2010
Homo sapiens, Homo sapiens (Q9H999)
Subramanian, C.; Yun, M.K.; Yao, J.; Sharma, L.K.; Lee, R.E.; White, S.W.; Jackowski, S.; Rock, C.O.
Allosteric regulation of mammalian pantothenate kinase
J. Biol. Chem.
291
22302-22314
2016
Mus musculus, Mus musculus (Q8K4K6), Mus musculus (Q8R2W9), Homo sapiens (Q8TE04), Homo sapiens (Q9BZ23), Homo sapiens (Q9H999), Homo sapiens
