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Document type:
Journal Article; Research Support, Non-U.S. Gov't 
Author(s):
Werning, Maike; Müllner, Ernst W; Mlynek, Georg; Dobretzberger, Verena; Djinovic-Carugo, Kristina; Baron, David M; Prokisch, Holger; Büchner, Boriana; Klopstock, Thomas; Salzer, Ulrich 
Title:
PKAN neurodegeneration and residual PANK2 activities in patient erythrocytes. 
Abstract:
OBJECTIVE: Pantothenate kinase 2-associated neurodegeneration (PKAN) is a rare neurodegenerative disease caused by mutations in the pantothenate kinase 2 (PANK2) gene. PKAN is associated with iron deposition in the basal ganglia and, occasionally, with the occurrence of misshaped erythrocytes (acanthocytes). The aim of this study was to assess residual activity of PANK2 in erythrocytes of PKAN patients and to correlate these data with the type of PANK2 mutations and the progression of neurodegen...    »
 
Journal title abbreviation:
Ann Clin Transl Neurol 
Year:
2020 
Journal volume:
Journal issue:
Pages contribution:
1340-1351 
Fulltext / DOI:
TUM Institution:
617; Institut für Humangenetik