Therapeutic approach with commercial supplements for pantothenate kinase-associated neurodegeneration with residual PANK2 expression levels [PDF]
Orphanet Journal of Rare Diseases, 2022 Background Neurodegeneration with brain iron accumulation (NBIA) is a group of rare neurogenetic disorders frequently associated with iron accumulation in the basal nuclei of the brain characterized by progressive spasticity, dystonia, muscle rigidity ...
Mónica Álvarez-Córdoba +10 more
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Patient-Derived Cellular Models for Polytarget Precision Medicine in Pantothenate Kinase-Associated Neurodegeneration [PDF]
Pharmaceuticals, 2023 The term neurodegeneration with brain iron accumulation (NBIA) brings together a broad set of progressive and disabling neurological genetic disorders in which iron is deposited preferentially in certain areas of the brain. Among NBIA disorders, the most
Mónica Álvarez-Córdoba +13 more
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Eye of the Tiger Sign in Pantothenate Kinase-Associated Neurodegeneration [PDF]
Case Reports in Radiology, 2021 Pantothenate kinase-associated neurodegeneration (PKAN) is a rare disorder associated with brain iron accumulation caused by a recessive mutation in pantothenate kinase 2 gene (PANK2).
S. Choayb +5 more
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Genetic mutation spectrum of pantothenate kinase-associated neurodegeneration expanded by breakpoint sequencing in pantothenate kinase 2 gene [PDF]
Orphanet Journal of Rare Diseases, 2022 Background Neurodegeneration with brain iron accumulation describes a group of rare heterogeneous progressive neurodegenerative disorders characterized by excessive iron accumulation in the basal ganglia region.
Dahae Yang +5 more
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Typical pantothenate kinase-associated neurodegeneration caused by compound heterozygous mutations in PANK2 gene in a Chinese patient: a case report and literature review [PDF]
Frontiers in Neurology, 2023 Pantothenate kinase-associated neurodegeneration (PKAN) is a rare genetic neurodegenerative disorder with brain iron accumulation characterized as dysarthria, spasticity, cognitive impairment, parkinsonism, and retinopathy.
Yilun Tao +7 more
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Alpha-lipoic acid supplementation corrects pathological alterations in cellular models of pantothenate kinase-associated neurodegeneration with residual PANK2 expression levels [PDF]
Orphanet Journal of Rare Diseases, 2023 Background Neurodegeneration with brain iron accumulation (NBIA) disorders are a group of neurodegenerative diseases that have in common the accumulation of iron in the basal nuclei of the brain which are essential components of the extrapyramidal system.
Marta Talaverón-Rey +12 more
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Atypical pantothenate kinase-associated neurodegeneration with variable phenotypes in an Egyptian family [PDF]
Heliyon, 2021 Pantothenate kinase-associated neurodegeneration (PKAN) is a rare hereditary neurodegenerative disease characterized by an accumulation of iron within the brain.
Ali S. Shalash +8 more
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Dyslipidemia and hypercalciuria in a patient with pantothenate kinase 2 deficiency: A novel variant and case report [PDF]
SAGE Open Medical Case ReportsPantothenate kinase-associated neurodegeneration (PKAN, OMIM: 234200) results from biallelic pathogenic variants in PANK2 which encodes pantothenate kinase 2, a crucial mitochondrial enzyme involved in coenzyme A biosynthesis.
Henry-Marcelo Rodriguez-Perez +5 more
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A Potential Citrate Shunt in Erythrocytes of PKAN Patients Caused by Mutations in Pantothenate Kinase 2 [PDF]
Biomolecules, 2022 Pantothenate kinase-associated neurodegeneration (PKAN) is a progressive neurodegenerative disease caused by mutations in the pantothenate kinase 2 (PANK2) gene and associated with iron deposition in basal ganglia.
Maike Werning +12 more
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Enhanced supply of acetyl-CoA by exogenous pantothenate kinase promotes synthesis of poly(3-hydroxybutyrate) [PDF]
Microbial Cell Factories, 2023 Background Coenzyme A (CoA) is a carrier of acyl groups. This cofactor is synthesized from pantothenic acid in five steps. The phosphorylation of pantothenate is catalyzed by pantothenate kinase (CoaA), which is a key step in the CoA biosynthetic pathway.
Hirotaka Kudo +8 more
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