Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model
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Neurodegeneration with brain iron accumulation: update on pathogenic mechanismsInduction of Neuron-Specific Degradation of Coenzyme A Models Pantothenate Kinase-Associated Neurodegeneration by Reducing Motor Coordination in MiceA new in vivo model of pantothenate kinase-associated neurodegeneration reveals a surprising role for transcriptional regulation in pathogenesisThe pallidopyramidal syndromes: nosology, aetiology and pathogenesis.Knock-down of pantothenate kinase 2 severely affects the development of the nervous and vascular system in zebrafish, providing new insights into PKAN diseasePallidal neuronal apolipoprotein E in pantothenate kinase-associated neurodegeneration recapitulates ischemic injury to the globus pallidus.Biometals in rare neurodegenerative disorders of childhood.Review: Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation: unifying theories.Coenzyme A corrects pathological defects in human neurons of PANK2-associated neurodegeneration.Brain iron accumulation affects myelin-related molecular systems implicated in a rare neurogenetic disease family with neuropsychiatric features.Down-regulation of coasy, the gene associated with NBIA-VI, reduces Bmp signaling, perturbs dorso-ventral patterning and alters neuronal development in zebrafish.Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model.Excess iron harms the brain: the syndromes of neurodegeneration with brain iron accumulation (NBIA).Pantothenate kinase-associated neurodegeneration (PKAN) and PLA2G6-associated neurodegeneration (PLAN): review of two major neurodegeneration with brain iron accumulation (NBIA) phenotypes.Alteration of the coenzyme A biosynthetic pathway in neurodegeneration with brain iron accumulation syndromes.Defective lipid metabolism in neurodegeneration with brain iron accumulation (NBIA) syndromes: not only a matter of iron.iPSC-derived neuronal models of PANK2-associated neurodegeneration reveal mitochondrial dysfunction contributing to early diseaseOral manifestations, dental management, and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case report and review of the literature.Mitochondrial dysfunction and defects in lipid homeostasis as therapeutic targets in neurodegeneration with brain iron accumulation.Modeling human Coenzyme A synthase mutation in yeast reveals altered mitochondrial function, lipid content and iron metabolism.Direct Neuronal Reprogramming for Disease Modeling Studies Using Patient-Derived Neurons: What Have We Learned?Mitochondrial iron and energetic dysfunction distinguish fibroblasts and induced neurons from pantothenate kinase-associated neurodegeneration patients.Pantothenate kinase-associated neurodegeneration: Clinical aspects, diagnosis and treatments.A therapeutic approach to pantothenate kinase associated neurodegeneration
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P2860
Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model
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2012 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2012
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im Dezember 2012 veröffentlichter wissenschaftlicher Artikel
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scientific journal article
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vedecký článok (publikovaný 2012/12/15)
@sk
vědecký článek publikovaný v roce 2012
@cs
wetenschappelijk artikel (gepubliceerd op 2012/12/15)
@nl
наукова стаття, опублікована в грудні 2012
@uk
مقالة علمية (نشرت في 15-12-2012)
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name
Pantothenate kinase-associated ...... in Pank2 knock-out mouse model
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Pantothenate kinase-associated ...... in Pank2 knock-out mouse model
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Pantothenate kinase-associated ...... in Pank2 knock-out mouse model
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type
label
Pantothenate kinase-associated ...... in Pank2 knock-out mouse model
@ast
Pantothenate kinase-associated ...... in Pank2 knock-out mouse model
@en
Pantothenate kinase-associated ...... in Pank2 knock-out mouse model
@nl
prefLabel
Pantothenate kinase-associated ...... in Pank2 knock-out mouse model
@ast
Pantothenate kinase-associated ...... in Pank2 knock-out mouse model
@en
Pantothenate kinase-associated ...... in Pank2 knock-out mouse model
@nl
P2093
P2860
P50
P3181
P356
P1476
Pantothenate kinase-associated ...... in Pank2 knock-out mouse model
@en
P2093
Andrea Uggetti
Anna Cozzi
Susan Hayflick
P2860
P304
P3181
P356
10.1093/HMG/DDS380
P50
P577
2012-12-15T00:00:00Z