|
Neuroferritinopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A ferritin light-chain variant related to neuroferritinopathy, in which alanine 96 is replaced with threonine (A96T), was expressed in Escherichia coli, purified, and characterized.
|
30986045 |
2019 |
|
Neuroferritinopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
From the chart review cohort, a C-terminus ferritin light chain (FTL) frameshift mutation was observed consistent with neuroferritinopathy.
|
27753142 |
2017 |
|
Neuroferritinopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Nucleotide insertions in the last exon of the ferritin light chain cause a neurodegenerative disease known as Neuroferritinopathy, characterized by iron deposition in the brain, particularly in the cerebellum, basal ganglia and motor cortex.
|
25689865 |
2015 |
|
Neuroferritinopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel ferritin light chain mutation in neuroferritinopathy with an atypical presentation.
|
24825732 |
2014 |
|
Neuroferritinopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome.
|
23421845 |
2013 |
|
Neuroferritinopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Hereditary hyperferritinemia cataract syndrome in four patients with mutations in the IRE of the FTL gene.
|
22881709 |
2013 |
|
Neuroferritinopathy
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Neuroferritinopathy.
|
24209436 |
2013 |
|
Neuroferritinopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Neuroferritinopathy is an autosomal dominant progressive movement disorder which occurs due to mutations in the ferritin light chain gene (FTL1).
|
22278127 |
2012 |
|
Neuroferritinopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ferritin light chain cause an adult-onset autosomal-dominant choreiform movement disorder termed neuroferritinopathy.
|
21496576 |
2011 |
|
Neuroferritinopathy
|
0.800 |
Biomarker
|
disease |
BEFREE |
The presence of Mt-FTL subunits in Mt-FTL/Wt-FTL heteropolymers also caused iron loading-induced aggregation relative to Wt-FTL homopolymers, with the precipitate containing Mt- and Wt-FTL polypeptides again paralleling HF.
|
21029774 |
2011 |
|
Neuroferritinopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A case report of spontaneous mutation (C33>U) in the iron-responsive element of L-ferritin causing hyperferritinemia-cataract syndrome.
|
19800271 |
2010 |
|
Neuroferritinopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the coding sequence of the ferritin light chain (FTL) gene cause a neurodegenerative disease known as neuroferritinopathy or hereditary ferritinopathy, which is characterized by the presence of intracellular inclusion bodies containing the mutant FTL polypeptide and by abnormal accumulation of iron in the brain.
|
19923220 |
2010 |
|
Neuroferritinopathy
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload.
|
19176363 |
2009 |
|
Neuroferritinopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel ferritin light chain gene mutation in a Japanese family with neuroferritinopathy: description of clinical features and implications for genotype-phenotype correlations.
|
19117339 |
2009 |
|
Neuroferritinopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To describe a family with a hereditary ferritinopathy (HF) due to a mutation in the ferritin light chain gene (FTL498-499InsTC mutation).
|
19514068 |
2009 |
|
Neuroferritinopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The finding that mutations in the ferritin light polypeptide (FTL) gene cause a neurodegenerative disease known as neuroferritinopathy or hereditary ferritinopathy (HF) provided a direct connection between abnormal brain iron storage and neurodegeneration.
|
18171923 |
2008 |
|
Neuroferritinopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Nucleotide insertions in the ferritin light chain (FTL) polypeptide gene cause hereditary ferritinopathy, a neurodegenerative disease characterized by abnormal accumulation of ferritin and iron in the central nervous system.
|
18755684 |
2008 |
|
Neuroferritinopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The ferritin L-chain is one of these genes, but the rare insertional mutations that cause neuroferritinopathy with basal ganglia degeneration have not yet been identified in PD.
|
17970701 |
2007 |
|
Neuroferritinopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Given the partial clinical overlap of SCA17, DRPLA and neuroferritinopathy with HD, their causative genes (TBP, ATN1, and FTL, respectively) were also analysed.
|
16858508 |
2006 |
|
Neuroferritinopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Neuroferritinopathy (MIM 606159, also labeled hereditary ferritinopathy and neurodegeneration with brain iron accumulation type 2, NBIA2) is an adult-onset progressive movement disorder caused by mutations in the ferritin light chain gene (FTL1).
|
17101456 |
2006 |
|
Neuroferritinopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The disease, also named dominant adult-onset basal ganglia disease, is associated with a nucleotide insertion that modifies the last 22 amino acids of the ferritin L-chain.
|
15737889 |
2005 |
|
Neuroferritinopathy
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement.
|
16116125 |
2005 |
|
Neuroferritinopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Neuroferritinopathy is a recently recognized autosomal dominant disorder that results in abnormal aggregates of iron and ferritin in the brain due to a mutation in the ferritin light chain gene on chromosome 19q13.3.
|
15390032 |
2005 |
|
Neuroferritinopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement.
|
16116125 |
2005 |
|
Neuroferritinopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report a family of French Canadian and Dutch ancestry with hereditary ferritinopathy (neuroferritinopathy) and a novel mutation (C insertion at nt646-647 in exon 4) in the ferritin light chain gene, resulting in a longer than normal protein.
|
15835264 |
2005 |