| 1 | PANK2, 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
|
| 2 | C19orf12, 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
|
| 3 | PANK2, 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
|
| 4 | C19orf12, 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
|
| 5 | PANK2, 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
|
| 6 | PANK2, 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
|
| 7 | PANK2, 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
|
| 8 | PANK2, 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
|
| 9 | PANK2, 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
|
| 10 | PANK2, 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
|
| 11 | PANK2, 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
|
| 12 | PANK2, 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
|
| 13 | PANK2, 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
|
| 14 | PANK2, 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
|
| 15 | PANK2, 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
|
| 16 | HARP, 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
|
| 17 | PANK2, 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
|
| 18 | PANK2, 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
|
| 19 | PANK2, 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
|
| 20 | HARP, 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
|
| 21 | HARP, 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
|
| 22 | PANK1, 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
|
| 23 | PANK2, 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
|
| 24 | PANK2, PKAN
|
| Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13.
|
| Taylor TD, et al.
|
| Nat Genet 14 : 479-481. 1996
|
| 25 | HARP, 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
|