An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria
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Neurodegeneration with brain iron accumulation: update on pathogenic mechanismsMetabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutationsExome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulationA novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effectDeprivation of pantothenic acid elicits a movement disorder and azoospermia in a mouse model of pantothenate kinase-associated neurodegenerationModulation of Pantothenate Kinase 3 Activity by Small Molecules that Interact with the Substrate/Allosteric Regulatory DomainClinical and genetic delineation of neurodegeneration with brain iron accumulationPantothenate kinase 1 is required to support the metabolic transition from the fed to the fasted statePantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse modelDeficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermiaLocalization and regulation of mouse pantothenate kinase 2Compartmentalization of mammalian pantothenate kinasesPantothenate kinase 2 mutation with eye-of-the-tiger sign on magnetic resonance imaging in three siblingsCharacterization of the human PANK2 promoter.Brain, blood, and iron: perspectives on the roles of erythrocytes and iron in neurodegeneration.The pallidopyramidal syndromes: nosology, aetiology and pathogenesis.Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegenerationAbsence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.Acanthocytosis and the c.680 A>G Mutation in the PANK2 Gene: A Study Enrolling a Cohort of PKAN Patients from the Dominican Republic.Activation of human mitochondrial pantothenate kinase 2 by palmitoylcarnitine.Knock-down of pantothenate kinase 2 severely affects the development of the nervous and vascular system in zebrafish, providing new insights into PKAN diseaseChemical knockout of pantothenate kinase reveals the metabolic and genetic program responsible for hepatic coenzyme A homeostasis.Review: Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation: unifying theories.Pantothenate kinase-associated neurodegeneration is not a synucleinopathyEmerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease.Defective pantothenate metabolism and neurodegeneration.Untangling the Thorns: Advances in the Neuroacanthocytosis Syndromes.A Novel Nonsense Mutation in PANK2 Gene in Two Patients with Pantothenate Kinase-Associated Neurodegeneration.Excess coenzyme A reduces skeletal muscle performance and strength in mice overexpressing human PANK2.Late onset atypical pantothenate-kinase-associated neurodegenerationMitochondrial dysfunction and defects in lipid homeostasis as therapeutic targets in neurodegeneration with brain iron accumulation.Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports.PANK2 phosphorylates PanKCharacterization and validation of Entamoeba histolytica pantothenate kinase as a novel anti-amebic drug target.Fosmetpantotenate (RE-024), a phosphopantothenate replacement therapy for pantothenate kinase-associated neurodegeneration: Mechanism of action and efficacy in nonclinical models.A therapeutic approach to pantothenate kinase associated neurodegeneration
P2860
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P2860
An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria
description
2003 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
article
@en
artículu científicu espublizáu en 2003
@ast
im Februar 2003 veröffentlichter wissenschaftlicher Artikel
@de
vedecký článok (publikovaný 2003/02/01)
@sk
vědecký článek publikovaný v roce 2003
@cs
wetenschappelijk artikel (gepubliceerd op 2003/02/01)
@nl
наукова стаття, опублікована в лютому 2003
@uk
مقالة علمية (نشرت في فبراير 2003)
@ar
name
An isoform of hPANK2, deficien ...... ion, localizes to mitochondria
@ast
An isoform of hPANK2, deficien ...... ion, localizes to mitochondria
@en
An isoform of hPANK2, deficien ...... ion, localizes to mitochondria
@nl
type
label
An isoform of hPANK2, deficien ...... ion, localizes to mitochondria
@ast
An isoform of hPANK2, deficien ...... ion, localizes to mitochondria
@en
An isoform of hPANK2, deficien ...... ion, localizes to mitochondria
@nl
prefLabel
An isoform of hPANK2, deficien ...... ion, localizes to mitochondria
@ast
An isoform of hPANK2, deficien ...... ion, localizes to mitochondria
@en
An isoform of hPANK2, deficien ...... ion, localizes to mitochondria
@nl
P356
P1476
An isoform of hPANK2, deficien ...... ion, localizes to mitochondria
@en
P2093
Holger Prokisch
Konstanze Hörtnagel
P356
10.1093/HMG/12.3.321
P407
P577
2003-02-01T00:00:00Z