Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations
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Induction of Neuron-Specific Degradation of Coenzyme A Models Pantothenate Kinase-Associated Neurodegeneration by Reducing Motor Coordination in MicePantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse modelOpen-Label Fosmetpantotenate, a Phosphopantothenate Replacement Therapy in a Single Patient with Atypical PKAN.MIF/CD74 axis is a target for novel therapies in colon carcinomatosis.Stable isotope dilution liquid chromatography/mass spectrometry analysis of cellular and tissue medium- and long-chain acyl-coenzyme A thioestersA Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh SyndromeOn the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation.Pallidal 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.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.Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases.Defective pantothenate metabolism and neurodegeneration.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.Advances in clinical determinants and neurological manifestations of B vitamin deficiency in adults.A Novel Nonsense Mutation in PANK2 Gene in Two Patients with Pantothenate Kinase-Associated Neurodegeneration.Late onset atypical pantothenate-kinase-associated neurodegenerationMitochondrial dysfunction and defects in lipid homeostasis as therapeutic targets in neurodegeneration with brain iron accumulation.Metabolic profiles of exercise in patients with McArdle disease or mitochondrial myopathy.Liver X receptors constrain tumor development and metastasis dissemination in PTEN-deficient prostate cancer.Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA).Modeling human Coenzyme A synthase mutation in yeast reveals altered mitochondrial function, lipid content and iron metabolism.Hallervorden-Spatz disease.Mitochondrial iron and energetic dysfunction distinguish fibroblasts and induced neurons from pantothenate kinase-associated neurodegeneration patients.Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation.Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye.Fosmetpantotenate (RE-024), a phosphopantothenate replacement therapy for pantothenate kinase-associated neurodegeneration: Mechanism of action and efficacy in nonclinical models.Neurodegeneration with brain iron accumulation (NBIA) subtypes pathway
P2860
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P2860
Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations
description
2012 nî lūn-bûn
@nan
2012 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի մարտին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Metabolic consequences of mito ...... patients with PANK2 mutations
@ast
Metabolic consequences of mito ...... patients with PANK2 mutations
@en
Metabolic consequences of mito ...... patients with PANK2 mutations
@en-gb
Metabolic consequences of mito ...... patients with PANK2 mutations
@nl
type
label
Metabolic consequences of mito ...... patients with PANK2 mutations
@ast
Metabolic consequences of mito ...... patients with PANK2 mutations
@en
Metabolic consequences of mito ...... patients with PANK2 mutations
@en-gb
Metabolic consequences of mito ...... patients with PANK2 mutations
@nl
prefLabel
Metabolic consequences of mito ...... patients with PANK2 mutations
@ast
Metabolic consequences of mito ...... patients with PANK2 mutations
@en
Metabolic consequences of mito ...... patients with PANK2 mutations
@en-gb
Metabolic consequences of mito ...... patients with PANK2 mutations
@nl
P2093
P2860
P50
P921
P1476
Metabolic consequences of mito ...... patients with PANK2 mutations
@en
P2093
Amanda L Souza
Clary B Clish
Federica Zibordi
Giovanna Zorzi
Laura Strittmatter
Marco Rimoldi
Paola Venco
Valerio Leoni
Vamsi K Mootha
P2860
P304
P356
10.1016/J.YMGME.2011.12.005
P407
P50
P577
2012-03-01T00:00:00Z