Citations for
1PANK2, PKAN
Coenzyme A corrects pathological defects in human neurons of PANK2-associated neurodegeneration.
Orellana DI, Santambrogio P, Rubio A, Yekhlef L, Cancellieri C, Dusi S, Giannelli SG, Venco P, Mazzara PG, Cozzi A, Ferrari M, Garavaglia B, Taverna S, Tiranti V, Broccoli V, Levi S.
EMBO Mol Med 8(10):1197-1211. doi: 10.15252/emmm.201606391. 2016
2C19orf12, COASY, NBIA2, NBIA4, NBIA6, PANK2, PKAN, PLA2G6
Mitochondria: A crossroads for lipid metabolism defect in neurodegeneration with brain iron accumulation diseases.
Aoun M, Tiranti V.
Int J Biochem Cell Biol 63:25-31. doi: 10.1016/j.biocel.2015.01.018. Review. 2015
3PANK2, PKAN
Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model.
Brunetti D, Dusi S, Giordano C, Lamperti C, Morbin M, Fugnanesi V, Marchet S, Fagiolari G, Sibon O, Moggio M, d'Amati G, Tiranti V.
Brain 137(Pt 1):57-68. doi: 10.1093/brain/awt325. 2014
4C19orf12, NBIA4, PANK2, PKAN
PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation.
Dezfouli MA, Alavi A, Rohani M, Rezvani M, Nekuie T, Klotzle B, Tonekaboni SH, Shahidi GA, Elahi E.
Mov Disord 28(2):228-32. doi: 10.1002/mds.25271. 2013
5PANK2
Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model.
Brunetti D, Dusi S, Morbin M, Uggetti A, Moda F, D'Amato I, Giordano C, d'Amati G, Cozzi A, Levi S, Hayflick S, Tiranti V.
Hum Mol Genet 21(24):5294-305. doi: 10.1093/hmg/dds380. 2012
6PANK1, PANK2
Germline deletion of pantothenate kinases 1 and 2 reveals the key roles for CoA in postnatal metabolism.
Garcia M, Leonardi R, Zhang YM, Rehg JE, Jackowski S.
PLoS One 7(7):e40871. doi: 10.1371/journal.pone.0040871. 2012
7PANK2, PKAN
Skin fibroblasts from pantothenate kinase-associated neurodegeneration patients show altered cellular oxidative status and have defective iron-handling properties.
Campanella A, Privitera D, Guaraldo M, Rovelli E, Barzaghi C, Garavaglia B, Santambrogio P, Cozzi A, Levi S.
Hum Mol Genet 21(18):4049-59. doi: 10.1093/hmg/dds229. 2012
8PANK2, PKAN
Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations.
Leoni V, Strittmatter L, Zorzi G, Zibordi F, Dusi S, Garavaglia B, Venco P, Caccia C, Souza AL, Deik A, Clish CB, Rimoldi M, Ciusani E, Bertini E, Nardocci N, Mootha VK, Tiranti V.
Mol Genet Metab 105(3):463-71. doi: 10.1016/j.ymgme.2011.12.005. 2012
9PANK2, PKAN
Pantothenate kinase-associated neurodegeneration: clinical description of 10 patients and identification of new mutations.
Assami S, Azzedine H, Nouioua S, Mundwiller E, Mahoui S, Makri S, Djemai M, Grid D, Brice A, Hamadouche T, Stevanin G, Tazir M.
Mov Disord 26(9):1777-9. doi: 10.1002/mds.23648. No abstract available. 2011
10PANK2
Pantothenate kinase-2 (Pank2) silencing causes cell growth reduction, cell-specific ferroportin upregulation and iron deregulation.
Poli M, Derosas M, Luscieti S, Cavadini P, Campanella A, Verardi R, Finazzi D, Arosio P.
Neurobiol Dis eurobiol Dis. 2010 Apr 23. [Epub ahead of print]PMID: 20399859 2010
11PANK2, PKAN
Indian-subcontinent NBIA: unusual phenotypes, novel PANK2 mutations, and undetermined genetic forms.
Aggarwal A, Schneider SA, Houlden H, Silverdale M, Paudel R, Paisan-Ruiz C, Desai S, Munshi M, Sanghvi D, Hardy J, Bhatia KP, Bhatt M.
Mov Disord 25(10):1424-31.PMID: 20629144 2010
12FOXN4, HNRNPAB, PANK2
Characterization of the human PANK2 promoter.
Polster BJ, Yoon MY, Hayflick SJ.
Gene 465(1-2):53-60. Epub 2010 Jul 11.PMID: 20603201 2010
13PANK2, PKAN
Clinical and genetic delineation of neurodegeneration with brain iron accumulation.
Gregory A, Polster BJ, Hayflick SJ.
J Med Genet 46(2):73-80. Epub 2008 Nov 3. Review.PMID: 18981035 2009
14PANK2, PKAN
A Novel PANK2 Mutation in a Patient with Atypical Pantothenate-Kinase-Associated Neurodegeneration Presenting with Adult-Onset Parkinsonism.
Seo JH, Song SK, Lee PH.
J Clin Neurol 5(4):192-4. Epub 2009 Dec 31.PMID: 20076801 2009
15PANK2, PKAN
Pantothenate kinase-associated neurodegeneration in two Chinese children: identification of a novel PANK2 gene mutation.
Chan KY, Lam CW, Lee LP, Tong SF, Yuen YP.
Hong Kong Med J 14(1):70-3.PMID: 18239249 2008
16PANK2
Activation of human mitochondrial pantothenate kinase 2 by palmitoylcarnitine.
Leonardi R, Rock CO, Jackowski S, Zhang YM.
Proc Natl Acad Sci U S A 104(5):1494-9. Epub 2007 Jan 22. 2007
17PANK2, PKAN
Novel mutation in the PANK2 gene leads to pantothenate kinase-associated neurodegeneration in a Pakistani family.
Saleheen D, Ali T, Aly Z, Khealani B, Frossard PM.
Pediatr Neurol 37(4):296-8.PMID: 17903678 2007
18PANK2, PKAN
A novel PANK2 gene mutation: clinical and molecular characteristics of patients short communication.
Kazek B, Jamroz E, Gencik M, Jezela Stanek A, Marszal E, Wojaczynska-Stanek K.
J Child Neurol 22(11):1256-9.PMID: 18006953 2007
19PANK2, PKAN
Biochemical properties of human pantothenate kinase 2 isoforms and mutations linked to pantothenate kinase-associated neurodegeneration.
Zhang YM, Rock CO, Jackowski S.
J Biol Chem 281(1):107-14. Epub 2005 Nov 3. 2006
20PANK2, PKAN
The eye-of-the-tiger sign is not pathognomonic of the PANK2 mutation.
Kumar N, Boes CJ, Babovic-Vuksanovic D, Boeve BF.
Arch Neurol 63(2):292-3. No abstract available. 2006
21HARP, PANK2, PKAN
PANK2 gene analysis confirms genetic heterogeneity in neurodegeneration with brain iron accumulation (NBIA) but mutations are rare in other types of adult neurodegenerative disease.
Matarin MM, Singleton AB, Houlden H.
Neurosci Lett 407(2):162-5. Epub 2006 Sep 7. 2006
22PANK2, PKAN
Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia.
Kuo YM, Duncan JL, Westaway SK, Yang H, Nune G, Xu EY, Hayflick SJ, Gitschier J.
Hum Mol Genet 14(1):49-57. Epub 2004 Nov 03. 2005
23PANK2, PKAN
Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome).
Egan RA, Weleber RG, Hogarth P, Gregory A, Coryell J, Westaway SK, Gitschier J, Das S, Hayflick SJ.
Am J Ophthalmol 140(2):267-74. 2005
24PANK2, PANK4, PKAN
An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria
Hortnagel K, Prokisch H, Meitinger T.
Hum Mol Genet 12(3):321-7. 2003
25HARP, PANK2, PKAN
Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic.
Houlden H, Lincoln S, Farrer M, Cleland PG, Hardy J, Orrell RW.
Neurology 61(10):1423-6. 2003
26HARP, PANK2, PKAN
HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration.
Ching KH, Westaway SK, Gitschier J, Higgins JJ, Hayflick SJ.
Neurology 58(11):1673-4. 2002
27PANK1, PANK2, PANK2, PANK3, PANK4, PKAN
A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome.
Zhou B, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ.
Nat Genet 28(4):345-9. 2001
28PANK2, PKAN
Juvenile-onset generalized neuroaxonal dystrophy (Hallervorden-Spatz disease) with diffuse neurofibrillary and lewy body pathology.
Wakabayashi K, Fukushima T, Koide R, Horikawa Y, Hasegawa M, Watanabe Y, Noda T, Eguchi I, Morita T, Yoshimoto M, Iwatsubo T, Takahashi H.
Acta Neuropathol (Berl) 99(3):331-6. 2000
29PANK2, PKAN
Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13.
Taylor TD, et al.
Nat Genet 14 : 479-481. 1996
30HARP, PANK2
Acanthocytosis, retinitis pigmentosa, and pallidal degeneration: a report of three patients, including the second reported case with hypoprebetalipoproteinemia (HARP syndrome).
Orrell RW, Amrolia PJ, Heald A, Cleland PG, Owen JS, Morgan-Hughes JA, Harding AE, Marsden CD.
Neurology 45(3 Pt 1):487-92. 1995
31HARP, PANK2, PKAN
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome).
Higgins JJ, Patterson MC, Papadopoulos NM, Brady RO, Pentchev PG, Barton NW.
Neurology 42(1):194-8. 1992