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References

These sources were used to develop the Genetics Home Reference gene summary on the FTL gene.

Burn J, Chinnery PF. Neuroferritinopathy. Semin Pediatr Neurol. 2006 Sep;13(3):176-81. PubMed citation
Cazzola M. Role of ferritin and ferroportin genes in unexplained hyperferritinaemia. Best Pract Res Clin Haematol. 2005 Jun;18(2):251-63. Review. PubMed citation
Craig JE, Clark JB, McLeod JL, Kirkland MA, Grant G, Elder JE, Toohey MG, Kowal L, Savoia HF, Chen C, Roberts S, Wirth MG, Mackey DA. Hereditary hyperferritinemia-cataract syndrome: prevalence, lens morphology, spectrum of mutations, and clinical presentations. Arch Ophthalmol. 2003 Dec;121(12):1753-61. PubMed citation
Crompton DE, Chinnery PF, Fey C, Curtis AR, Morris CM, Kierstan J, Burt A, Young F, Coulthard A, Curtis A, Ince PG, Bates D, Jackson MJ, Burn J. Neuroferritinopathy: a window on the role of iron in neurodegeneration. Blood Cells Mol Dis. 2002 Nov-Dec;29(3):522-31. PubMed citation
Curtis AR, Fey C, Morris CM, Bindoff LA, Ince PG, Chinnery PF, Coulthard A, Jackson MJ, Jackson AP, McHale DP, Hay D, Barker WA, Markham AF, Bates D, Curtis A, Burn J. Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. Nat Genet. 2001 Aug;28(4):350-4. PubMed citation
Entrez Gene
Koorts AM, Viljoen M. Ferritin and ferritin isoforms I: Structure-function relationships, synthesis, degradation and secretion. Arch Physiol Biochem. 2007 Feb;113(1):30-54. Review. PubMed citation
Levi S, Cozzi A, Arosio P. Neuroferritinopathy: a neurodegenerative disorder associated with L-ferritin mutation. Best Pract Res Clin Haematol. 2005 Jun;18(2):265-76. Review. PubMed citation
Madsen E, Gitlin JD. Copper and iron disorders of the brain. Annu Rev Neurosci. 2007;30:317-37. Review. PubMed citation
Millonig G, Muckenthaler MU, Mueller S. Hyperferritinaemia-cataract syndrome: worldwide mutations and phenotype of an increasingly diagnosed genetic disorder. Hum Genomics. 2010 Apr;4(4):250-62. Review. PubMed citation
OMIM: FERRITIN LIGHT CHAIN
Vidal R, Ghetti B, Takao M, Brefel-Courbon C, Uro-Coste E, Glazier BS, Siani V, Benson MD, Calvas P, Miravalle L, Rascol O, Delisle MB. Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide gene. J Neuropathol Exp Neurol. 2004 Apr;63(4):363-80. PubMed citation


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