Article
Pallidal neuronal apolipoprotein E in pantothenate kinase-associated neurodegeneration recapitulates ischemic injury to the globus pallidus.
Molecular genetics and metabolism - 1 Dec 2015
Woltjer Randall L, Reese Lindsay C, Richardson Brian E, Tran Huong, Green Sarah, Pham Thao, Chalupsky Megan, Gabriel Isabella, Light Tyler, Sanford Lynn, Jeong Suh Young, Hamada Jeffrey, Schwanemann Leila K, Rogers Caleb, Gregory Allison, Hogarth Penelope, Hayflick Susan J
Abstract excerpt
Pantothenate kinase-associated neurodegeneration (PKAN) is a progressive movement disorder that is due to mutations in PANK2. Pathologically, it is a member of a class of diseases known as neurodegeneration with brain iron accumulation (NBIA) and features increased tissue iron and ubiquitinated proteinaceous aggregates in the globus pallidus. We have previously determined that these aggregates represent condensed...
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