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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. Coenzyme A corrects pathological defects in human neurons of PANK2-associated neurodegeneration. EMBO Mol Med. 2016 Oct 4; 8(10): 1197-1211. Full article
 
Horvarth R, Lewis-Smith D, Douroudis K, Duff J, Keogh M, Pyle A, Flechter N, Chinnery PF. SCP2 mutations and neurodegeneration with brain iron accumulation. Neurology. 2015 Nov 24: 85 (21): 1909-11. Full article
 
Srinivasan B, Baratashvili M, van der Zwaag M, Kanon B, Colombelli C, Lambrechts RA, Schaap O, Nollen EA, Podgoresk A, Kosec G, Petkovic H, Hayflick S, Tiranti V, Reijngoud DJ, Grzeschik NA, Sibon OC. Extracellular 4'phosphopantetheine is a source for intracellular coenzyme A synthesis. Nat Chem Biol. 2015 Oct; 11(10): 784-92. Abstract
 
Kleffner I, Wessling C, Gess B, Korsukewitz C, Allkemper T, Schirmacher A, Young P, Senderek J, Husstedt IW. Behr syndrome with homozygous C19ORF12 mutation. J Neurol Sci. 2015 Jul 9. pii: S0022-510X(15)00430-X. Abstract
 
Venco P, Bonora M, Giorgi C, Papaleo E, Iuso A, Prokisch H, Pinton P, Tiranti V. Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca2+. Front Genet. 2015 May 19, 6: 185. Full article
 
Meyer E, Kurian MA, Hayflick SJ. Neurodegeneration with Brain Iron Accumulation: Genetic Diversity and Pathophysiological Mechanisms. Annu Rev Genomics Hum Genet. 2015 May 8. Abstract
 
Berti CC, Dallabona, C, Lazzaretti M, Dusi S, Tosi E, Tiranti V, Goffrini P. Modeling human Coenzyme A synthase mutation in yeast reveals altered mitochondrial function, lipid content and iron metabolism. Microbial Cell 2(4): 126-135. Full article
 
Santambrogio P, Dusi S, Guaraldo M, Rotundo LI, Broccoli V, Garavaglia B, Tiranti V, Levi S. Mitochondrial iron and energetic dysfunction distinguish fibroblasts and induced neurons from pantothenate kinase-associated neurodegeneration patients. Neurobiol Dis. 2015 Mar 30. pii: S0969-9961(15)00098-4. Full article
 
Skowronska M, Kmiec T, Kurkowska-Jastrzebskal, Czlonkowska A. Eye of the tiger sign in a 23year patient with mitochondrial membrane protein associated neurodegeneration. J Neruol Sci. 2015 Mar 20. pii: S0022-510X(15)00150-1. Abstract
 
Sibon O, Hayflick S, Tiranti V. Modeling PKAN in Mice and Flies. Mov Disord. 2015. Second Edition, Genetics and Models: 905-913. Abstract
 
Aoun M, Tiranti V. Mitochondria: A crossroads for lipid metabolism defect in neurodegeneration with brain iron accumulation diseases. Int J Biochem Cell Biol. 2015 Feb 7. Abstract
 
Hogarth P. Neurodegeneration with brain iron accumulation: diagnosis and management. J Mov Disord. 2015 Jan; 8(1): 1-13. Full article
 
Colombelli C, Aoun M, Tiranti V. Defective lipid metabolism in neurodegeneration with brain iron accumulation (NBIA) syndromes: not only a matter of iron. J Inherit Metab Dis. 2014 Oct 10. Abstract
 
Hayflick SJ. Defective pantothenate metabolism and neurodegeneration. Biochem Soc Trans. 2014 Aug 1, 42(4): 1063-8. Abstract
 
Srinivasan B, Sibon OC. Coenzyme A, more than 'just' a metabolic cofactor. Biochem Soc Trans. 2014 Aug 1; 42(4): 1075-9. Abstract
 
Venco P, Dusi S, Valletta L, Tiranti V. Alteration of the coenzyme A bio synthetic pathway in neurodegeneration with brain iron accumulation syndromes. Biochem Soc Trans. 2014 Aug 1, 42(4): 1069-74. Abstract
 
Zumbrennen-Bullough KB, Becker L, Garrett L, Hölter SM, Calzada-Wrack J, Mossbrugger I, Quintanilla-Fend L, Racz I, Rathkolb B, Klopstock T, Wurst W, Zimmer A, Wolf E, Fuchs H, Gailus-Durner V, de Angelis MH, Romney SJ, Leibold EA. Abnormal brain iron metabolism in Irp2 deficient mice is associated with mild neurological and behavioral impairments. PLoS One. 2014 Jun 4;9(6): e98072. Full article
 
Gregory A, Hartig M, Prokisch H, Kmiec T, Hogarth P, Hayflick SJ. Mitochondrial Membrane Protein-Associated Neurodegeneration. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. 2014 Feb. 27. Full article
 
Dusi S, Valetta L, Haack TB, Tsuchiya Y, Venco P, Pasqualato S, Goffrini P, Tigano M, Demchenko N, Wiesland T, Schwarzmayr T, Strom TM, Invernizzi F, Garavaglia B, Gregory A, Sanford L, Hamada J, Bettencourt C, Houlden H, Chiapparini L, Zorzi G, Kurian MA, Nardocci N, Prokisch H, Hayflick S, Gout I, Tiranti V. Exome Sequencing Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation. Am J Hum Genet. 2014 Jan 2; 94(1): 11-22. Full article
 
Haack TB, Hogarth P, Gregory A, Prokisch H, Hayflick SJ. BPAN: The Only X-Linked Dominant NBIA Disorder. Int Rev Neurobiol. 2013; 110C: 85-90. Abstract
 
Hartig M, Prokisch H, Meitinger T, Klopstock T. Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN). Int Rev Neurobiol. 2013; 110C: 73-84. Abstract
 
Zorzi G, Nardocci N. Therapeutic Advances in Neurodegeneration with Brain Iron Accumulation. Int Rev Neurobiol. 2013; 110C: 153-164. Abstract
 
Hayflick SJ, Kruer MC, Gregory A, Haack TB, Kurian MA, Houlden HH, Anderson J, Boddaert N, Sanford L, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, Tarnopolsky M, Skinner S, Holden KR, Frucht S, Hanspal E, Schrander-Stumpel C, Mignot C, Héron D, Saunders DE, Kaminska M, Lin JP, Lascelles K, Cuno SM, Meyer E, Garavaglia B, Bhatia K, de Silva R, Crisp S, Lunt P, Carey M, Hardy J, Meitinger T, Prokisch H, Hogarth P. Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. Brain 2013; 136: 1708-17. Full article 
 
Gregory A, Hayflick S. Neurodegeneration with Brain Iron Accumulation Disorders Overview. GeneReviews 2013. Full article
 
Hogarth P, Gregory A, Kruer MC, Sanford L, Wagoner W, Natowicz MR, Egel RT, Subramony SH, Goldman JG, Berry-Kravis E, Foulds NC, Hammans SR, Desguerre I, Rodriguez D, Wilson C, Diedrich A, Green S, Tran H, Reese L, Woltjer RL, Hayflick SJ. New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN. Neurology 2013; 80: 268-75. Full article
 
Haack TB, Hogarth P, Kruer MC, Gregory A, Wieland T, Schwarzmayr T, Graf E, Sanford L, Meyer E, Kara E, Cuno SM, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, Tarnopolsky M, Skinner S, Frucht S, Hanspal E, Schrander-Stumpel C, Héron D, Mignot C, Garavaglia B, Bhatia K, Hardy J, Stom TM, Boddaert N, Houlden HH, Kurian MA, Meitinger T, Prokisch H, Hayflick SJ. Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. AM J Hum Genet 2012; 91: 1144-9. Full article
 
Brunetti D, Dusi S, Morbin M, Uggetti A, Moda F, D'AmatoI, Giordano C, d'Amati G, Cozzi A, Levi S, Hayflick S, Tiranti V. Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model. Hum Mol Genet 2012; 21: 5294-305. Full article
 
Kalman B, Lautenschlaeger R, Kohlmayer F, Büchner B, Kmiec T, Klopstock T, Kuhn KA. An international registry for neurodegeneration with brain iron accumulation. Orphanet J Rare Dis 2012; 7: 66. Full article
 
Hartig MB, Prokisch H, Meitinger T, Klopstock T. Pantothenate kinase-associated neurodegeneration. Curr Drug Targets 2012; 13: 1182-9. Abstract
 
Hayflick SJ, Hogarth P. As iron goes, so goes disease? Haematologica 2011; 96: 1571-2. Full article