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Article

Pantothenate Rescues Iron Accumulation in Pantothenate Kinase-Associated Neurodegeneration Depending on the Type of Mutation.

Molecular neurobiology - 1 May 2019

Álvarez-Córdoba Mónica, Fernández Khoury Aida, Villanueva-Paz Marina, Gómez-Navarro Carmen, Villalón-García Irene, Suárez-Rivero Juan M, Povea-Cabello Suleva, de la Mata Mario, Cotán David, Talaverón-Rey Marta, Pérez-Pulido Antonio J, Salas Joaquín J, Pérez-Villegas Eva Mª, Díaz-Quintana Antonio, Armengol José A, Sánchez-Alcázar José A

Abstract excerpt

Neurodegeneration with brain iron accumulation (NBIA) is a group of inherited neurologic disorders in which iron accumulates in the basal ganglia resulting in progressive dystonia, spasticity, parkinsonism, neuropsychiatric abnormalities, and optic atrophy or retinal degeneration. The most prevalent form of NBIA is pantothenate kinase-associated neurodegeneration (PKAN) associated with mutations in the gene of...

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PMID: 30173408
DOI: 10.1007/s12035-018-1333-0

Genes

PANK2

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Pantothenate Rescues Iron Accumulation in Pantothenate Kinase-Associated Neurodegeneration Depending on the Type of Mutation.PMID 30173408Read ↗

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