Results 41 to 50 of about 1,572 (180)
Hong Kong medical journal = Xianggang yi xue za zhi, 2008 Pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome), the most prevalent form of neurodegeneration with brain iron accumulation, is a rare degenerative brain disease characterised by predominantly extrapyramidal dysfunction resulting from mutations in the PANK2 (pantothenate kinase 2) gene. Using DNA mutation analysis,
Tong, SF +4 more
openaire +3 more sources
Pharmacokinetic and Pharmacodynamic Evaluation of PZ-2891, an Anti-Alzheimer's Disease Agonist of PANK2. [PDF]
Pharmaceuticals (Basel)Background/Objectives: Alzheimer’s disease (AD) is a neurodegenerative disorder with a high incidence but limited agents. Herein, PZ-2891 was discovered as a novel anti-AD candidate. Both in vivo and in vitro pharmacodynamic (PD) studies and pharmacokinetic (PK) properties were investigated and illustrated in this research.
Chen Y +6 more
europepmc +3 more sources
Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations [PDF]
Molecular Genetics and Metabolism, 2012 Pantothenate kinase-associated neurodegeneration (PKAN) is a rare, inborn error of metabolism characterized by iron accumulation in the basal ganglia and by the presence of dystonia, dysarthria, and retinal degeneration. Mutations in pantothenate kinase 2 (PANK2), the rate-limiting enzyme in mitochondrial coenzyme A biosynthesis, represent the most ...
Leoni, Valerio +16 more
openaire +2 more sources
Novel PANK2 mutation in a Chinese boy with PANK2-associated neurodegeneration
Medicine, 2019 Abstract Rationale: Pantothenate kinase-associated neurodegeneration (PKAN), also called Hallervorden–Spatz Syndrome (HSS), is a rare neurodegeneration with brain iron accumulation from pantothenate kinase 2 gene (PANK2) mutation characterized as extrapyramidal symptoms.
Zhang, Yingying +2 more
openaire +2 more sources
, 2022 Pantothenate kinase-associated neurodegeneration (PKAN) is a rare genetic disorder caused by mutations in the mitochondrial pantothenate kinase 2 (PANK2) gene and displays an inherited autosomal recessive pattern. In this study, we identified eight PANK2
Huan-Cheng Xie (12357649) +11 more
core +1 more source
Neurobiology of Disease, 2016 : Pantothenate Kinase Associated Neurodegeneration (PKAN) is an autosomal recessive disorder with mutations in the pantothenate kinase 2 gene (PANK2), encoding an essential enzyme for Coenzyme A (CoA) biosynthesis.
Daniela Zizioli +10 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2021 Background Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic neurological disorders frequently associated with iron accumulation in the basal nuclei of the brain characterized by progressive spasticity, dystonia, muscle rigidity,
Mónica Álvarez-Córdoba +8 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2022 Background Neurodegeneration with brain iron accumulation describes a group of rare heterogeneous progressive neurodegenerative disorders characterized by excessive iron accumulation in the basal ganglia region.
Dahae Yang +5 more
doaj +1 more source
, 2015 We are developing zebrafish models of PKAN and COPAN, two types of Neurodegeneration with Brain Iron Accumulation disorders associated to mutations in genes involved in CoA biosynthesis. We describe, for the first time, the results obtained by loss-of-function of pank2 expression during the early stages of zebrafish development.
Zizioli, D +10 more
openaire +2 more sources
, 2022 Pantothenate kinase-associated neurodegeneration (PKAN) is a rare genetic disorder caused by mutations in the mitochondrial pantothenate kinase 2 (PANK2) gene and displays an inherited autosomal recessive pattern. In this study, we identified eight PANK2
Huan-Cheng Xie (12357649) +11 more
core +1 more source