Precision medicine in pantothenate kinase-associated neurodegeneration
Neural Regeneration Research, 2019 Neurodegeneration with brain iron accumulation is a broad term that describes a heterogeneous group of progressive and invalidating neurologic disorders in which iron deposits in certain brain areas, mainly the basal ganglia.
Mónica Alvarez-Cordoba +8 more
doaj +5 more sources
Proposed Therapies for Pantothenate-Kinase-Associated Neurodegeneration [PDF]
Journal of Experimental Neuroscience, 2019 Multiple approaches to therapy have been proposed for the rare inherited neurodegenerative disease associated with mutations in the PANK2 gene, called pantothenate-kinase-associated neurodegeneration (PKAN).
Suzanne Jackowski
doaj +4 more sources
Pantothenate kinase-associated neurodegeneration [PDF]
Koc D: Pantothenate kinase-associated neurodegeneration, 2020 Neurodegeneration with brain iron accumulation is a group of disorders, the commonest of which is PKAN (Pantothenate kinase associated neurodegeneration).
Sandra M.H. Nordlie +3 more
core +7 more sources
Human pantothenate kinase 4 is a pseudo‐pantothenate kinase [PDF]
Protein Science, 2019 AbstractPantothenate kinase generates 4′‐phosphopantothenate in the first and rate‐determining step of coenzyme A (CoA) biosynthesis. The human genome encodes three well‐characterized and nearly identical pantothenate kinases (PANK1‐3) plus a putative bifunctional protein (PANK4) with a predicted amino‐terminal pantothenate kinase domain fused to a ...
Jiangwei Yao +2 more
exaly +5 more sources
Novel Compound Heterozygous Mutations in the Pantothenate Kinase 2 Gene in a Korean Patient with Atypical Pantothenate Kinase Associated Neurodegeneration [PDF]
Journal of Movement Disorders, 2009 Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder that is characterized by mutations in the pantothenate kinase 2 gene (PANK2) and typical magnetic resonance imaging findings.
Sung-Hyouk Kim +6 more
doaj +2 more sources
Fosmetpantotenate (RE-024), a phosphopantothenate replacement therapy for pantothenate kinase-associated neurodegeneration: Mechanism of action and efficacy in nonclinical models. [PDF]
PLoS ONE, 2018 In cells, phosphorylation of pantothenic acid to generate phosphopantothenic acid by the pantothenate kinase enzymes is the first step in coenzyme A synthesis.
Daniel Elbaum +7 more
doaj +2 more sources
SAGE Open Medical Case Reports, 2017 Pantothenate-kinase-associated neurodegeneration is the most common autosomal recessive form of neurodegeneration with brain iron accumulation. Less than 100 mutations in PANK2 gene (20p13) are responsible for classic and atypical cases.
George P Paraskevas +6 more
doaj +4 more sources
Mutations in the pantothenate kinase of Plasmodium falciparum confer diverse sensitivity profiles to antiplasmodial pantothenate analogues. [PDF]
PLoS Pathogens, 2018 The malaria-causing blood stage of Plasmodium falciparum requires extracellular pantothenate for proliferation. The parasite converts pantothenate into coenzyme A (CoA) via five enzymes, the first being a pantothenate kinase (PfPanK).
Erick T Tjhin +13 more
doaj +2 more sources
Zaporožskij Medicinskij Žurnal, 2021 Aim. To analyze current data of scientific literature on the etiology, pathogenesis, approaches to the diagnosis and treatment of rare orphan disease – pantothenate kinase-associated neurodegeneration and to describe the clinical case of this disease.
Yu. H. Antypkin +6 more
doaj +3 more sources
Acanthocytes in Pantothenate Kinase Associated Neurodegeneration
, 2006 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 ...
Klopstock T., Elstner M., Malandrini A.
openaire +4 more sources