KEGG   VARIANT: 2512v1
Entry
2512v1                      Variant                                
Name
FTL mutation
Gene
FTL  ferritin light chain [KO:K13625]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 134790
Network
nt06525  Ferroptosis
Disease
H00833  Neurodegeneration with brain iron accumulation
Reference
  Authors
Cozzi A, Santambrogio P, Ripamonti M, Rovida E, Levi S
  Title
Pathogenic mechanism and modeling of neuroferritinopathy.
  Journal
Cell Mol Life Sci 78:3355-3367 (2021)
DOI:10.1007/s00018-020-03747-w
Reference
  Authors
Cozzi A, Orellana DI, Santambrogio P, Rubio A, Cancellieri C, Giannelli S, Ripamonti M, Taverna S, Di Lullo G, Rovida E, Ferrari M, Forni GL, Fiorillo C, Broccoli V, Levi S
  Title
Stem Cell Modeling of Neuroferritinopathy Reveals Iron as a Determinant of Senescence and Ferroptosis during Neuronal Aging.
  Journal
Stem Cell Reports 13:832-846 (2019)
DOI:10.1016/j.stemcr.2019.09.002
Reference
  Authors
Cremonesi L, Cozzi A, Girelli D, Ferrari F, Fermo I, Foglieni B, Levi S, Bozzini C, Camparini M, Ferrari M, Arosio P
  Title
Case report: a subject with a mutation in the ATG start codon of L-ferritin has no haematological or neurological symptoms.
  Journal
J Med Genet 41:e81 (2004)
DOI:10.1136/jmg.2003.011718
LinkDB

DBGET integrated database retrieval system