Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0013421 (
dystonia
)
8,418
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Neurodegeneration with brain iron accumulation (NBIA) is a genetically heterogeneous condition characterized by progressive
dystonia
with iron accumulation in the basal ganglia. How NBIA-associated mutations trigger iron overload remains poorly understood. After studying fibroblast cell lines from subjects carrying both known and unreported biallelic mutations in CRAT and REPS1, we ascribe iron overload to the abnormal recycling of transferrin receptor (
TfR1
) and the reduction of
TfR1
palmitoylation in NBIA. Moreover, we describe palmitoylation as a hitherto unreported level of post-translational
TfR1
regulation. A widely used antimalarial agent, artesunate, rescued abnormal
TfR1
palmitoylation in cultured fibroblasts of NBIA subjects. These observations suggest therapeutic strategies aimed at targeting impaired
TfR1
recycling and palmitoylation in NBIA.
...
PMID:Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation. 2939 73
