Hallervorden-Spatz syndrome (HSS) and HARP syndrome (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration) were shown to be due to mutations in the gene for pantothenate kinase 2 (PANK2). It was suggested that this group of disorders should now be referred to as pantothenate kinase associated neurodegeneration (PKAN). PANK2 is a key regulatory enzyme in the biosynthesis of coenzyme A, which in turn is pivotal in phospholipid biosynthesis and membranogenesis. Thus, defective membrane repair may be the molecular basis for acanthocyte formation in PKAN. © 2004 Springer. All Rights Reserved.

Klopstock, T., Elstner, M., Malandrini, A. (2005). Acanthocytes in pantothenate kinase associated neurodegeneration. In A. Danek (a cura di), Neuroacanthocytosis Syndromes (pp. 67-70). Springer Netherlands [10.1007/1-4020-2898-9_8].

Acanthocytes in pantothenate kinase associated neurodegeneration

Malandrini A.
2005-01-01

Abstract

Hallervorden-Spatz syndrome (HSS) and HARP syndrome (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration) were shown to be due to mutations in the gene for pantothenate kinase 2 (PANK2). It was suggested that this group of disorders should now be referred to as pantothenate kinase associated neurodegeneration (PKAN). PANK2 is a key regulatory enzyme in the biosynthesis of coenzyme A, which in turn is pivotal in phospholipid biosynthesis and membranogenesis. Thus, defective membrane repair may be the molecular basis for acanthocyte formation in PKAN. © 2004 Springer. All Rights Reserved.
978-1-4020-2897-7
Klopstock, T., Elstner, M., Malandrini, A. (2005). Acanthocytes in pantothenate kinase associated neurodegeneration. In A. Danek (a cura di), Neuroacanthocytosis Syndromes (pp. 67-70). Springer Netherlands [10.1007/1-4020-2898-9_8].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11365/1128545