Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia
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Neurodegeneration with brain iron accumulation: update on pathogenic mechanismsRetinal iron homeostasis in health and diseaseMetabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutationsDeprivation of pantothenic acid elicits a movement disorder and azoospermia in a mouse model of pantothenate kinase-associated neurodegenerationInduction of Neuron-Specific Degradation of Coenzyme A Models Pantothenate Kinase-Associated Neurodegeneration by Reducing Motor Coordination in MiceIron homeostasis and toxicity in retinal degenerationPantothenate 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 thioestersGermline deletion of pantothenate kinases 1 and 2 reveals the key roles for CoA in postnatal metabolismLocalization and regulation of mouse pantothenate kinase 2Compartmentalization of mammalian pantothenate kinasesA new in vivo model of pantothenate kinase-associated neurodegeneration reveals a surprising role for transcriptional regulation in pathogenesisDrosophila phosphopantothenoylcysteine synthetase is required for tissue morphogenesis during oogenesis.Neurodegeneration with brain iron accumulation.Mechanisms of brain iron transport: insight into neurodegeneration and CNS disorders.Pantethine rescues a Drosophila model for pantothenate kinase-associated neurodegenerationChildhood disorders of neurodegeneration with brain iron accumulation (NBIA).Brain, blood, and iron: perspectives on the roles of erythrocytes and iron in neurodegeneration.A novel mitofusin 2 mutation causes canine fetal-onset neuroaxonal dystrophy.A high-throughput screen reveals new small-molecule activators and inhibitors of pantothenate kinases.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.Correction of a genetic deficiency in pantothenate kinase 1 using phosphopantothenate replacement therapy.Biometals in rare neurodegenerative disorders of childhood.Pantothenate kinase-associated neurodegeneration is not a synucleinopathyCoenzyme A corrects pathological defects in human neurons of PANK2-associated neurodegeneration.Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model.Mitochondrial ferritin expression in adult mouse tissues.Metabolic activation of CaMKII by coenzyme A.What can Drosophila teach us about iron-accumulation neurodegenerative disorders?Lysine acetylation in the lumen of the ER: a novel and essential function under the control of the UPR.Pantothenate kinase-associated neurodegeneration (PKAN) and PLA2G6-associated neurodegeneration (PLAN): review of two major neurodegeneration with brain iron accumulation (NBIA) phenotypes.The neuropathology of neurodegeneration with brain iron accumulation.Alteration of the coenzyme A biosynthetic pathway in neurodegeneration with brain iron accumulation syndromes.Coenzyme A, more than 'just' a metabolic cofactor.Defective lipid metabolism in neurodegeneration with brain iron accumulation (NBIA) syndromes: not only a matter of iron.Excess coenzyme A reduces skeletal muscle performance and strength in mice overexpressing human PANK2.Late onset atypical pantothenate-kinase-associated neurodegenerationAllosteric Regulation of Mammalian Pantothenate Kinase.
P2860
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P2860
Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia
description
2005 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հունվարին հրատարակված գիտական հոդված
@hy
artikull shkencor
@sq
artículu científicu espublizáu en 2005
@ast
im Januar 2005 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована в січні 2005
@uk
مقالة علمية (نشرت عام 2005)
@ar
name
Deficiency of pantothenate kin ...... l degeneration and azoospermia
@ast
Deficiency of pantothenate kin ...... l degeneration and azoospermia
@en
Deficiency of pantothenate kin ...... l degeneration and azoospermia
@nl
type
label
Deficiency of pantothenate kin ...... l degeneration and azoospermia
@ast
Deficiency of pantothenate kin ...... l degeneration and azoospermia
@en
Deficiency of pantothenate kin ...... l degeneration and azoospermia
@nl
prefLabel
Deficiency of pantothenate kin ...... l degeneration and azoospermia
@ast
Deficiency of pantothenate kin ...... l degeneration and azoospermia
@en
Deficiency of pantothenate kin ...... l degeneration and azoospermia
@nl
P2093
P2860
P3181
P356
P1476
Deficiency of pantothenate kin ...... l degeneration and azoospermia
@en
P2093
Eugene Yujun Xu
George Nune
Haidong Yang
Jacque L. Duncan
Jane Gitschier
Shawn K. Westaway
Susan J. Hayflick
Yien-Ming Kuo
P2860
P3181
P356
10.1093/HMG/DDI005
P577
2005-01-01T00:00:00Z