An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria
about
Neurodegeneration with brain iron accumulation: update on pathogenic mechanismsCrystal structures of human pantothenate kinases. Insights into allosteric regulation and mutations linked to a neurodegeneration disorderA family of metal-dependent phosphatases implicated in metabolite damage-controlPantothenate 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 modelFeedback regulation of murine pantothenate kinase 3 by coenzyme A and coenzyme A thioestersDeficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermiaLocalization and regulation of mouse pantothenate kinase 2Compartmentalization of mammalian pantothenate kinasesPPARalpha controls the intracellular coenzyme A concentration via regulation of PANK1alpha gene expression.Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegenerationAcanthocytosis 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.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.Alteration of the coenzyme A biosynthetic pathway in neurodegeneration with brain iron accumulation syndromes.Coenzyme A biosynthetic machinery in mammalian cells.Exploring Missense Mutations in Tyrosine Kinases Implicated with Neurodegeneration.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 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation.Gene copy number variations in Asian patients with congenital bilateral absence of the vas deferens.Pantothenate kinase-associated neurodegeneration: insights from a Drosophila model.Pantothenate kinase associated neurodegeneration (Hallervorden-Spatz syndrome).Genetic, clinical, and imaging characterization of one patient with late-onset, slowly progressive, pantothenate kinase-associated neurodegeneration.Biochemical properties of human pantothenate kinase 2 isoforms and mutations linked to pantothenate kinase-associated neurodegeneration.A novel PANK2 gene mutation: clinical and molecular characteristics of patients short communication.Movement disorders in mitochondrial disease.Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye.
P2860
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P2860
An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria
description
2003 nî lūn-bûn
@nan
2003 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
An isoform of hPANK2, deficien ...... ion, localizes to mitochondria
@ast
An isoform of hPANK2, deficien ...... ion, localizes to mitochondria
@en
type
label
An isoform of hPANK2, deficien ...... ion, localizes to mitochondria
@ast
An isoform of hPANK2, deficien ...... ion, localizes to mitochondria
@en
prefLabel
An isoform of hPANK2, deficien ...... ion, localizes to mitochondria
@ast
An isoform of hPANK2, deficien ...... ion, localizes to mitochondria
@en
P356
P1476
An isoform of hPANK2, deficien ...... ion, localizes to mitochondria
@en
P2093
K. Hortnagel
P304
P356
10.1093/HMG/DDG026
P577
2003-02-01T00:00:00Z