Literature DB >> 18413574

Neuroferritinopathy in a Japanese family with a duplication in the ferritin light chain gene.

E Ohta1, T Nagasaka, K Shindo, S Toma, K Nagasaka, K Ohta, Z Shiozawa.   

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Year:  2008        PMID： 18413574     DOI： 10.1212/01.wnl.0000310428.74624.95

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  23 in total

1.  A mutant light-chain ferritin that causes neurodegeneration has enhanced propensity toward oxidative damage.

Authors:  Martin A Baraibar; Ana G Barbeito; Barry B Muhoberac; Ruben Vidal
Journal:  Free Radic Biol Med       Date:  2012-02-17       Impact factor: 7.376

Review 2.  Pathogenic mechanism and modeling of neuroferritinopathy.

Authors:  Anna Cozzi; Paolo Santambrogio; Maddalena Ripamonti; Ermanna Rovida; Sonia Levi
Journal:  Cell Mol Life Sci       Date:  2021-01-13       Impact factor: 9.261

3.  Mutant L-chain ferritins that cause neuroferritinopathy alter ferritin functionality and iron permeability.

Authors:  Justin R McNally; Matthew R Mehlenbacher; Sara Luscieti; Gideon L Smith; Aliaksandra A Reutovich; Poli Maura; Paolo Arosio; Fadi Bou-Abdallah
Journal:  Metallomics       Date:  2019-10-16       Impact factor: 4.526

4.  Mutant ferritin L-chains that cause neurodegeneration act in a dominant-negative manner to reduce ferritin iron incorporation.

Authors:  Sara Luscieti; Paolo Santambrogio; Béatrice Langlois d'Estaintot; Thierry Granier; Anna Cozzi; Maura Poli; Bernard Gallois; Dario Finazzi; Angela Cattaneo; Sonia Levi; Paolo Arosio
Journal:  J Biol Chem       Date:  2010-02-16       Impact factor: 5.157

5.  Abnormal iron metabolism in fibroblasts from a patient with the neurodegenerative disease hereditary ferritinopathy.

Authors:  Ana G Barbeito; Thierry Levade; Marie B Delisle; Bernardino Ghetti; Ruben Vidal
Journal:  Mol Neurodegener       Date:  2010-11-10       Impact factor: 14.195

6.  Unraveling of the E-helices and disruption of 4-fold pores are associated with iron mishandling in a mutant ferritin causing neurodegeneration.

Authors:  Martin A Baraibar; Barry B Muhoberac; Holly J Garringer; Thomas D Hurley; Ruben Vidal
Journal:  J Biol Chem       Date:  2009-11-18       Impact factor: 5.157

Review 7.  Brain iron homeostasis: from molecular mechanisms to clinical significance and therapeutic opportunities.

Authors:  Neena Singh; Swati Haldar; Ajai K Tripathi; Katharine Horback; Joseph Wong; Deepak Sharma; Amber Beserra; Srinivas Suda; Charumathi Anbalagan; Som Dev; Chinmay K Mukhopadhyay; Ajay Singh
Journal:  Antioxid Redox Signal       Date:  2013-08-15       Impact factor: 8.401

8.  Iron loading-induced aggregation and reduction of iron incorporation in heteropolymeric ferritin containing a mutant light chain that causes neurodegeneration.

Authors:  Barry B Muhoberac; Martin A Baraibar; Ruben Vidal
Journal:  Biochim Biophys Acta       Date:  2010-10-26

9.  A novel ferritin light chain mutation in neuroferritinopathy with an atypical presentation.

Authors:  Katsuya Nishida; Holly J Garringer; Naonobu Futamura; Itaru Funakawa; Kenji Jinnai; Ruben Vidal; Masaki Takao
Journal:  J Neurol Sci       Date:  2014-04-12       Impact factor: 3.181

10.  Clinical features and natural history of neuroferritinopathy caused by the 458dupA FTL mutation.

Authors:  David Devos; P Jissendi Tchofo; Isabelle Vuillaume; Alain Destée; Stephanie Batey; John Burn; Patrick F Chinnery
Journal:  Brain       Date:  2008-10-14       Impact factor: 13.501
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