178 related articles for article (PubMed ID: 37660254)
1. Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy.
Shieh JT; Tintos-Hernandez JA; Murali CN; Penon-Portmann M; Flores-Mendez M; Santana A; Bulos JA; Du K; Dupuis L; Damseh N; Mendoza-Londoño R; Berera C; Lee JC; Phillips JJ; Alves CAPF; Dmochowski IJ; Ortiz-González XR
HGG Adv; 2023 Oct; 4(4):100236. PubMed ID: 37660254
[TBL] [Abstract][Full Text] [Related]
2. Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene
Shieh JT; Tintos-Hernández JA; Murali CN; Penon-Portmann M; Flores-Mendez M; Santana A; Bulos JA; Du K; Dupuis L; Damseh N; Mendoza-Londoño R; Berera C; Lee JC; Phillips JJ; Alves CAPF; Dmochowski IJ; Ortiz-González XR
medRxiv; 2023 Jan; ():. PubMed ID: 36778397
[TBL] [Abstract][Full Text] [Related]
3. Iron loading-induced aggregation and reduction of iron incorporation in heteropolymeric ferritin containing a mutant light chain that causes neurodegeneration.
Muhoberac BB; Baraibar MA; Vidal R
Biochim Biophys Acta; 2011 Apr; 1812(4):544-8. PubMed ID: 21029774
[TBL] [Abstract][Full Text] [Related]
4. Iron, Ferritin, Hereditary Ferritinopathy, and Neurodegeneration.
Muhoberac BB; Vidal R
Front Neurosci; 2019; 13():1195. PubMed ID: 31920471
[TBL] [Abstract][Full Text] [Related]
5. De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy.
Hamanaka K; Imagawa E; Koshimizu E; Miyatake S; Tohyama J; Yamagata T; Miyauchi A; Ekhilevitch N; Nakamura F; Kawashima T; Goshima Y; Mohamed AR; Ch'ng GS; Fujita A; Azuma Y; Yasuda K; Imamura S; Nakashima M; Saitsu H; Mitsuhashi S; Mizuguchi T; Takata A; Miyake N; Matsumoto N
Am J Hum Genet; 2020 Apr; 106(4):549-558. PubMed ID: 32169168
[TBL] [Abstract][Full Text] [Related]
6. L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia-Report of New Cases.
Cadenas B; Fita-Torró J; Bermúdez-Cortés M; Hernandez-Rodriguez I; Fuster JL; Llinares ME; Galera AM; Romero JL; Pérez-Montero S; Tornador C; Sanchez M
Pharmaceuticals (Basel); 2019 Jan; 12(1):. PubMed ID: 30678075
[TBL] [Abstract][Full Text] [Related]
7. A novel neuroferritinopathy mouse model (FTL 498InsTC) shows progressive brain iron dysregulation, morphological signs of early neurodegeneration and motor coordination deficits.
Maccarinelli F; Pagani A; Cozzi A; Codazzi F; Di Giacomo G; Capoccia S; Rapino S; Finazzi D; Politi LS; Cirulli F; Giorgio M; Cremona O; Grohovaz F; Levi S
Neurobiol Dis; 2015 Sep; 81():119-33. PubMed ID: 25447222
[TBL] [Abstract][Full Text] [Related]
8. Abnormal iron homeostasis and neurodegeneration.
Muhoberac BB; Vidal R
Front Aging Neurosci; 2013; 5():32. PubMed ID: 23908629
[TBL] [Abstract][Full Text] [Related]
9. A newly identified ferritin L-subunit variant results in increased proteasomal subunit degradation, impaired complex assembly, and severe hypoferritinemia.
Shagidov D; Guttmann-Raviv N; Cunat S; Frech L; Giansily-Blaizot M; Ghatpande N; Abelya G; Frank GA; Aguilar Martinez P; Meyron-Holtz EG
Am J Hematol; 2024 Jan; 99(1):12-20. PubMed ID: 37867341
[TBL] [Abstract][Full Text] [Related]
10. Neuropathological and biochemical investigation of Hereditary Ferritinopathy cases with ferritin light chain mutation: Prominent protein aggregation in the absence of major mitochondrial or oxidative stress.
Kurzawa-Akanbi M; Keogh M; Tsefou E; Ramsay L; Johnson M; Keers S; Wsa Ochieng L; McNair A; Singh P; Khan A; Pyle A; Hudson G; Ince PG; Attems J; Burn J; Chinnery PF; Morris CM
Neuropathol Appl Neurobiol; 2021 Feb; 47(1):26-42. PubMed ID: 32464705
[TBL] [Abstract][Full Text] [Related]
11. Mutant L-chain ferritins that cause neuroferritinopathy alter ferritin functionality and iron permeability.
McNally JR; Mehlenbacher MR; Luscieti S; Smith GL; Reutovich AA; Maura P; Arosio P; Bou-Abdallah F
Metallomics; 2019 Oct; 11(10):1635-1647. PubMed ID: 31513212
[TBL] [Abstract][Full Text] [Related]
12. Ferritin heavy/light chain (FTH1/FTL) expression, serum ferritin levels, and their functional as well as prognostic roles in acute myeloid leukemia.
Bertoli S; Paubelle E; Bérard E; Saland E; Thomas X; Tavitian S; Larcher MV; Vergez F; Delabesse E; Sarry A; Huguet F; Larrue C; Bosc C; Farge T; Sarry JE; Michallet M; Récher C
Eur J Haematol; 2019 Feb; 102(2):131-142. PubMed ID: 30325535
[TBL] [Abstract][Full Text] [Related]
13. An Overview of Heavy Chain Ferritin in Cancer.
Shi X; Zhang A; Lu J; Wang X; Yi C; Yang F
Front Biosci (Landmark Ed); 2023 Aug; 28(8):182. PubMed ID: 37664922
[TBL] [Abstract][Full Text] [Related]
14. Sexually dimorphic effect of H-ferritin genetic manipulation on survival and tumor microenvironment in a mouse model of glioblastoma.
Pandya Shesh B; Walter V; Palsa K; Slagle-Webb B; Neely E; Schell T; Connor JR
J Neurooncol; 2023 Sep; 164(3):569-586. PubMed ID: 37812288
[TBL] [Abstract][Full Text] [Related]
15. Comprehensive analysis of ferritin subunits expression and positive correlations with tumor-associated macrophages and T regulatory cells infiltration in most solid tumors.
Hu ZW; Chen L; Ma RQ; Wei FQ; Wen YH; Zeng XL; Sun W; Wen WP
Aging (Albany NY); 2021 Apr; 13(8):11491-11506. PubMed ID: 33864445
[TBL] [Abstract][Full Text] [Related]
16. Unraveling of the E-helices and disruption of 4-fold pores are associated with iron mishandling in a mutant ferritin causing neurodegeneration.
Baraibar MA; Muhoberac BB; Garringer HJ; Hurley TD; Vidal R
J Biol Chem; 2010 Jan; 285(3):1950-6. PubMed ID: 19923220
[TBL] [Abstract][Full Text] [Related]
17. [Clinical features of neuroferritinopathy].
Ohta E; Nagasaka T; Shindo K; Toma S; Nagasaka K; Miwa M; Takiyama Y; Shiozawa Z
Rinsho Shinkeigaku; 2009 May; 49(5):254-61. PubMed ID: 19594102
[TBL] [Abstract][Full Text] [Related]
18. Cryo-EM structures and functional characterization of homo- and heteropolymers of human ferritin variants.
Irimia-Dominguez J; Sun C; Li K; Muhoberac BB; Hallinan GI; Garringer HJ; Ghetti B; Jiang W; Vidal R
Sci Rep; 2020 Nov; 10(1):20666. PubMed ID: 33244127
[TBL] [Abstract][Full Text] [Related]
19. MBD5 regulates iron metabolism via methylation-independent genomic targeting of Fth1 through KAT2A in mice.
Tao Y; Wu Q; Guo X; Zhang Z; Shen Y; Wang F
Br J Haematol; 2014 Jul; 166(2):279-91. PubMed ID: 24750026
[TBL] [Abstract][Full Text] [Related]
20. Abnormal iron metabolism and oxidative stress in mice expressing a mutant form of the ferritin light polypeptide gene.
Barbeito AG; Garringer HJ; Baraibar MA; Gao X; Arredondo M; Núñez MT; Smith MA; Ghetti B; Vidal R
J Neurochem; 2009 May; 109(4):1067-78. PubMed ID: 19519778
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]