Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease.
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Neurodegeneration with brain iron accumulation: update on pathogenic mechanismsIron and neurodegeneration: from cellular homeostasis to diseaseMutant ferritin L-chains that cause neurodegeneration act in a dominant-negative manner to reduce ferritin iron incorporationUnraveling of the E-helices and disruption of 4-fold pores are associated with iron mishandling in a mutant ferritin causing neurodegenerationRecent advances in understanding haemochromatosis: a transition stateNeuroferritinopathy: Pathophysiology, Presentation, Differential Diagnoses and ManagementThe choreography of neuroinflammation in Huntington's diseaseMulti-copper oxidases and human iron metabolismInduction of biogenic magnetization and redox control by a component of the target of rapamycin complex 1 signaling pathwayNeuroferritinopathy: From ferritin structure modification to pathogenetic mechanismNeurodegeneration with brain iron accumulation: diagnosis and managementPure akinesia: an unusual phenotype of Hallervorden-Spatz syndromeGenetics of neurodegeneration with brain iron accumulationClinical and genetic delineation of neurodegeneration with brain iron accumulationCollective dynamics differentiates functional divergence in protein evolutionBrain and retinal ferroportin 1 dysregulation in polycythaemia miceIron-mediated aggregation and a localized structural change characterize ferritin from a mutant light chain polypeptide that causes neurodegeneration.Late-onset neurodegeneration with brain iron accumulation with diffusion tensor magnetic resonance imagingNeurodegeneration with Brain Iron Accumulation: Clinicoradiological Approach to Diagnosis.Neurodegeneration with brain iron accumulation.Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach.Iron in chronic brain disorders: imaging and neurotherapeutic implications.Ferritin levels and their association with regional brain volumes in Tourette's syndrome.Mechanisms of copper ion mediated Huntington's disease progressionPeptides selected for the protein nanocage pores change the rate of iron recovery from the ferritin mineral.Mechanisms of brain iron transport: insight into neurodegeneration and CNS disorders.Caenorhabditis elegans: a model to investigate oxidative stress and metal dyshomeostasis in Parkinson's diseaseProgressive brain iron accumulation in neuroferritinopathy measured by the thalamic T2* relaxation rate.Neuroferritinopathy: a new inborn error of iron metabolismIn vivo evaluation of microglia activation by intracranial iron overload in central pain after spinal cord injuryA novel ferritin light chain mutation in neuroferritinopathy with an atypical presentationDystonia in neurodegeneration with brain iron accumulation: outcome of bilateral pallidal stimulation.Alanine-shaving mutagenesis to determine key interfacial residues governing the assembly of a nano-cage maxi-ferritinIron homeostasis in peripheral nervous system, still a black box?Childhood disorders of neurodegeneration with brain iron accumulation (NBIA).Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement.Iron accumulation confers neurotoxicity to a vulnerable population of nigral neurons: implications for Parkinson's disease.Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype.Accumulation of oxidative DNA damage in brain mitochondria in mouse model of hereditary ferritinopathy.Altered manganese homeostasis and manganese toxicity in a Huntington's disease striatal cell model are not explained by defects in the iron transport system.
P2860
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P2860
Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease.
description
2001 nî lūn-bûn
@nan
2001 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Mutation in the gene encoding ...... t-onset basal ganglia disease.
@ast
Mutation in the gene encoding ...... t-onset basal ganglia disease.
@en
Mutation in the gene encoding ...... t-onset basal ganglia disease.
@nl
type
label
Mutation in the gene encoding ...... t-onset basal ganglia disease.
@ast
Mutation in the gene encoding ...... t-onset basal ganglia disease.
@en
Mutation in the gene encoding ...... t-onset basal ganglia disease.
@nl
prefLabel
Mutation in the gene encoding ...... t-onset basal ganglia disease.
@ast
Mutation in the gene encoding ...... t-onset basal ganglia disease.
@en
Mutation in the gene encoding ...... t-onset basal ganglia disease.
@nl
P2093
P356
P1433
P1476
Mutation in the gene encoding ...... t-onset basal ganglia disease.
@en
P2093
Bindoff LA
Coulthard A
Jackson AP
P2888
P304
P356
10.1038/NG571
P407
P577
2001-08-01T00:00:00Z
P5875
P6179
1011706257