Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia - Wikidata - thesis-toulmin - TriplyDB

Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia

Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia

http://www.wikidata.org/entity/Q28588602

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Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms Retinal iron homeostasis in health and disease Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations Deprivation of pantothenic acid elicits a movement disorder and azoospermia in a mouse model of pantothenate kinase-associated neurodegeneration Induction of Neuron-Specific Degradation of Coenzyme A Models Pantothenate Kinase-Associated Neurodegeneration by Reducing Motor Coordination in Mice Iron homeostasis and toxicity in retinal degeneration Pantothenate kinase 1 is required to support the metabolic transition from the fed to the fasted state Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model Feedback regulation of murine pantothenate kinase 3 by coenzyme A and coenzyme A thioesters Germline deletion of pantothenate kinases 1 and 2 reveals the key roles for CoA in postnatal metabolism Localization and regulation of mouse pantothenate kinase 2 Compartmentalization of mammalian pantothenate kinases A new in vivo model of pantothenate kinase-associated neurodegeneration reveals a surprising role for transcriptional regulation in pathogenesis Drosophila 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 neurodegeneration Childhood 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 synucleinopathy Coenzyme 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 neurodegeneration Allosteric Regulation of Mammalian Pantothenate Kinase.

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P2860

Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia

http://www.wikidata.org/entity/Q28588602

description

2005 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2005 թվականի հունվարին հրատարակված գիտական հոդված

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artikull shkencor

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artículu científicu espublizáu en 2005

@ast

im Januar 2005 veröffentlichter wissenschaftlicher Artikel

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scientific journal article

@en

wetenschappelijk artikel

@nl

наукова стаття, опублікована в січні 2005

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مقالة علمية (نشرت عام 2005)

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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

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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

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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

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Human Molecular Genetics

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Deficiency of pantothenate kin ...... l degeneration and azoospermia

@en

P2093

Eugene Yujun Xu

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George Nune

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Haidong Yang

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Jacque L. Duncan

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Jane Gitschier

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Shawn K. Westaway

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Susan J. Hayflick

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Yien-Ming Kuo

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P2860

Elimination of zinc from synaptic vesicles in the intact mouse brain by disruption of the ZnT3 gene

An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria

A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome

Mislocalisation of hephaestin, a multicopper ferroxidase involved in basolateral intestinal iron transport, in the sex linked anaemia mouse

Mitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase-associated neurodegeneration

Spermiogenesis deficiency and germ-cell apoptosis in CREM-mutant mice

Severe impairment of spermatogenesis in mice lacking the CREM gene

fumble encodes a pantothenate kinase homolog required for proper mitosis and meiosis in Drosophila melanogaster

Male germ cells and photoreceptors, both dependent on close cell-cell interactions, degenerate upon ClC-2 Cl(-) channel disruption

Tyro-3 family receptors are essential regulators of mammalian spermatogenesis

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49–57

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scholarly article

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3995019

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10.1093/HMG/DDI005

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1

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14

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2005-01-01T00:00:00Z

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8194271

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15525657

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2117329

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