EC Number   |
Application |
Reference |
|---|
    2.7.1.33 | drug development |
since Entamoeba histolytica PanK (EhPanK) is physiologically important and sufficiently divergent from its human orthologs, this enzyme represents an attractive target for the development of novel anti-amebic chemotherapies |
759375 |
| 2.7.1.33 | medicine |
a young girl with early onset pantothenate kinase-associated neurodegeneration whose initial clinical manifestation is ataxia at the age of 2.5 years and refractory severe dystonia resulting in essentially complete loss of motor control. She has a mutation in PANK2 gene consisting of an amino acid change of alanine to valine in exon 5 (A382V). After Globus Pallidus deep brain stimulation at the age of 11 years, the patient regains useful motor function and speech with a marked decrease in the severity of the dystonia |
686546 |
| 2.7.1.33 | medicine |
neurodegeneration with brain iron accumulation is a heterogenous group of disorder. One group of patiens bears mutations in the gene encoding pantothenate kinase 2 |
684227 |
| 2.7.1.33 | medicine |
pallidal stimulation for dystonia in pantothenate kinase associated neurodegeneration |
689335 |
| 2.7.1.33 | medicine |
pantothenate kinase associated neurodegeneration is an autosomal recessive disorder characterized by dystonia, parkinsonism, and iron accumulation in the brain. Many patients have a mutation in the gene encoding pantothenate kinase 2 which is a key regulator enzyme in the biosynthesis of coenzyme A |
690019 |
| 2.7.1.33 | medicine |
pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome), the most prevalent form of neurodegeneration with brain iron accumulation, is a rare degenerative brain disease characterised by predominantly extrapyramidal dysfunction resulting from mutations in the PANK2 (pantothenate kinase 2) gene. A novel missense mutation (P354L) in exon 4 of the PANK2 gene is identified in an adolescent with classic pantothenate kinase-associated neurodegeneration. DNA-based diagnosis of pantothenate kinase-associated neurodegeneration plays a key role in determination, and can make the diagnosis more simply, directly, and economically because it obviates the need for unnecessary biochemical tests. Once pantothenate kinase-associated neurodegeneration-like symptoms are identified, mutation analysis and target screening for the family of the proband can provide efficient and accurate evidence of pantothenate kinase-associated neurodegeneration inheritance |
687016 |
| 2.7.1.33 | medicine |
pantothenate kinase-associated neurodegeneration is a neurodegenerative condition with a broad phenotypic spectrum |
688202 |
| 2.7.1.33 | medicine |
pantothenate kinase-associated neurodegeneration is a progressive neurodegenerative disorder with autosomal recessive inheritance. The major symptoms of PKAN include the onset before the age of 20 years, progressive pyramidal and extrapyramidal signs, retinitis pigmentosa, optic atrophy, dementia, and iron depositions in the globus pallidus. Identification of mutations of PANK2 gene in patients with proven molecular diagnosis of pantothenate kinase-associated neurodegeneration |
687943 |
| 2.7.1.33 | medicine |
pantothenate kinase-associated neurodegeneration is an autosomal-recessive disorder associated with the accumulation of iron in the basal ganglia. The disease presents with dystonia, rigidity, and gait impairment, leading to restriction of activities and loss of ambulation. The disorder is caused by defective iron metabolism associated with mutations in the PANK2 gene, which codes for the pantothenate kinase enzyme. A mutation screen conducted in two siblings to establish a molecular diagnosis of the disease and a genetic test for the family is reported |
689334 |
| 2.7.1.33 | medicine |
pantothenate-kinase-associated neurodegeneration (PKAN) is caused by mutations of the pantothenate kinase (PANK2) on chromosome 20p13. PKAN is characterized clinically by extrapyramidal symptoms (in 98% of cases), in particular, generalized dystonia with oromandibular involvement, and parkinsonism-spasticity (25%), behavioral changes followed by dementia (29%), and pigmentary retinal degeneration. The mean age at onset is between 3 and 4 years |
689128 |
