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Disease on EC 2.7.1.33 - pantothenate kinase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Abetalipoproteinemia
Acanthocytosis and the c.680 A>G Mutation in the PANK2 Gene: A Study Enrolling a Cohort of PKAN Patients from the Dominican Republic.
Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic.
Anemia, Sideroblastic
[Genetics of hereditary iron overload]
Ataxia
Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports.
Azoospermia
Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia.
Deprivation of pantothenic acid elicits a movement disorder and azoospermia in a mouse model of pantothenate kinase-associated neurodegeneration.
Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model.
Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model.
Basal Ganglia Diseases
Neurodegeneration with brain iron accumulation.
Brain Diseases
Pantothenate kinase-associated neurodegeneration in two Chinese children: identification of a novel PANK2 gene mutation.
Status dystonicus: management and prevention in children at high risk.
Carcinoma, Hepatocellular
Pantothenate kinase-2 (Pank2) silencing causes cell growth reduction, cell-specific ferroportin upregulation and iron deregulation.
Cataract
A novel mutation of PANK4 causes autosomal dominant congenital posterior cataract.
Cerebellar Ataxia
PANK2 gene analysis confirms genetic heterogeneity in neurodegeneration with brain iron accumulation (NBIA) but mutations are rare in other types of adult neurodegenerative disease.
Chorea
Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports.
Deglutition Disorders
Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia.
Dementia
Pantothenate kinase 2 deficiency: A neurodegeneration with brain iron accumulation.
Diabetes Mellitus, Type 2
[Screening susceptibility genes of type 2 diabetes in Chinese population by single nucleotide polymorphism analysis]
Dysarthria
Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration.
Novel compound heterozygous PANK2 gene mutations in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration.
Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model.
Dyskinesias
Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports.
Psychiatric symptoms in an adolescent reveal a novel compound heterozygous mutation of the PANK2 gene in the atypical PKAN syndrome.
[Tourettism, hemiballism and juvenile Parkinsonism: expanding the clinical spectrum of the neurodegeneration associated to pantothenate kinase deficiency (Hallervorden Spatz syndrome)]
Dystonia
A novel gene mutation in PANK2 in a patient with severe jaw-opening dystonia.
A novel PANK2 gene mutation with sudden-onset dystonia.
Characterization of the human PANK2 promoter.
Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration.
Focal hand dystonia in a patient with PANK2 mutation.
Low prevalence of PANK2 mutations in Brazilian patients with early onset generalised dystonia and basal ganglia abnormalities on MRI.
Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports.
PANK2 gene analysis confirms genetic heterogeneity in neurodegeneration with brain iron accumulation (NBIA) but mutations are rare in other types of adult neurodegenerative disease.
Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model.
Pyruvate dehydrogenase E2 deficiency: A potentially treatable cause of episodic dystonia.
Rare causes of dystonia parkinsonism.
Screening for THAP1 Mutations in Polish Patients with Dystonia Shows Known and Novel Substitutions.
Unraveling the Hallervorden-Spatz syndrome: pantothenate kinase-associated neurodegeneration is the name.
[Anesthesia considerations for deep-brain stimulation in a patient with type-2 pantothenate kinase deficiency (Hallervorden-Spatz disease)]
Dystonic Disorders
Status dystonicus: management and prevention in children at high risk.
Essential Tremor
Does lesioning surgery have a role in the management of multietiological tremor in the era of Deep Brain Stimulation?
Friedreich Ataxia
Neurodegeneration with brain iron accumulation - Clinical syndromes and neuroimaging.
[Genetics of hereditary iron overload]
Genetic Diseases, Inborn
Alterations of Red Cell Membrane Properties in Nneuroacanthocytosis.
Correction of a genetic deficiency in pantothenate kinase 1 using phosphopantothenate replacement therapy.
Iron toxicity as a potential factor in AMD.
Panthotenate Kinase-Associated Neurodegeneration Has a Founder Mutation (c.215_216insa) in Indian Agrawal Patients.
[Genetics of hereditary iron overload]
Glioma
Pantothenate kinase-2 (Pank2) silencing causes cell growth reduction, cell-specific ferroportin upregulation and iron deregulation.
Hepatoblastoma
PPARalpha controls the intracellular coenzyme A concentration via regulation of PANK1alpha gene expression.
Hepatolenticular Degeneration
Does lesioning surgery have a role in the management of multietiological tremor in the era of Deep Brain Stimulation?
Neuropathology and pathogenesis of extrapyramidal movement disorders: a critical update. II. Hyperkinetic disorders.
Rare causes of dystonia parkinsonism.
Hyperglycemia
Pantothenate kinase 1 is required to support the metabolic transition from the fed to the fasted state.
Hypertriglyceridemia
Pantothenate kinase 1 is required to support the metabolic transition from the fed to the fasted state.
Hypoglycemia
Germline Deletion of Pantothenate Kinases 1 and 2 Reveals the Key Roles for CoA in Postnatal Metabolism.
Hypolipoproteinemias
Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic.
Infections
Activation of Anopheles stephensi Pantothenate Kinase and Coenzyme A Biosynthesis Reduces Infection with Diverse Plasmodium Species in the Mosquito Host.
Pantothenic acid metabolism during avian malaria infection: pantothenate kinase activity in duck erythrocytes and in Plasmodium lophurae.
Infertility, Male
Pantothenate kinase-associated neurodegeneration: insights from a Drosophila model.
Influenza, Human
Identification of Host Kinase Genes Required for Influenza Virus Replication and the Regulatory Role of MicroRNAs.
Insulin Resistance
Pank1 deletion in leptin-deficient mice reduces hyperglycaemia and hyperinsulinaemia and modifies global metabolism without affecting insulin resistance.
Intellectual Disability
PANK2 gene analysis confirms genetic heterogeneity in neurodegeneration with brain iron accumulation (NBIA) but mutations are rare in other types of adult neurodegenerative disease.
Iron Overload
Iron toxicity as a potential factor in AMD.
[Genetics of hereditary iron overload]
[Hemochromatosis: one form of iron-overload diseases].
Learning Disabilities
Pyruvate dehydrogenase E2 deficiency: A potentially treatable cause of episodic dystonia.
Lipid Metabolism Disorders
[Clinical characteristics and molecular pathogenesis of pantothenate kinase-associated neurodegenerative disease].
Macular Degeneration
Iron toxicity as a potential factor in AMD.
Malaria
A class of pantothenic acid analogs inhibits Plasmodium falciparum pantothenate kinase and represses the proliferation of malaria parasites.
Feedback inhibition of pantothenate kinase regulates pantothenol uptake by the malaria parasite.
Genetic Characterization of Plasmodium Putative Pantothenate Kinase Genes Reveals Their Essential Role in Malaria Parasite Transmission to the Mosquito.
Malaria, Avian
Pantothenic acid metabolism during avian malaria infection: pantothenate kinase activity in duck erythrocytes and in Plasmodium lophurae.
Transport and metabolism of the essential vitamin pantothenic acid in human erythrocytes infected with the malaria parasite Plasmodium falciparum.
Metabolic Diseases
Functional connectivity of the motor system in dystonia due to PKAN.
P53/PANK1/miR-107 signalling pathway spans the gap between metabolic reprogramming and insulin resistance induced by high-fat diet.
Movement Disorders
7-Tesla Magnetic Resonance Imaging for Brain Iron Quantification in Homozygous and Heterozygous PANK2 Mutation Carriers.
A novel gene mutation in PANK2 in a patient with an atypical form of pantothenate kinase-associated neurodegeneration.
Deprivation of pantothenic acid elicits a movement disorder and azoospermia in a mouse model of pantothenate kinase-associated neurodegeneration.
Hereditary parkinsonism: Parkinson disease look-alikes-An algorithm for clinicians to "PARK" genes and beyond.
Mitochondrial iron and energetic dysfunction distinguish fibroblasts and induced neurons from pantothenate kinase-associated neurodegeneration patients.
Pallidal neuronal apolipoprotein E in pantothenate kinase-associated neurodegeneration recapitulates ischemic injury to the globus pallidus.
PANK2 gene analysis confirms genetic heterogeneity in neurodegeneration with brain iron accumulation (NBIA) but mutations are rare in other types of adult neurodegenerative disease.
Pantothenate kinase-2 (Pank2) silencing causes cell growth reduction, cell-specific ferroportin upregulation and iron deregulation.
Siblings with the adult-onset slowly progressive type of pantothenate kinase-associated neurodegeneration and a novel mutation, Ile346Ser, in PANK2: clinical features and (99m)Tc-ECD brain perfusion SPECT findings.
The "eye of the tiger" sign in pure akinesia with gait freezing.
[Hemochromatosis: one form of iron-overload diseases].
Multiple Sclerosis
Does lesioning surgery have a role in the management of multietiological tremor in the era of Deep Brain Stimulation?
Muscle Rigidity
Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports.
Neoplasms
Pleiotropic functions of miR107 in cancer networks.
Prevalence of chromosomal rearrangements involving non-ETS genes in prostate cancer.
Nervous System Diseases
Deprivation of pantothenic acid elicits a movement disorder and azoospermia in a mouse model of pantothenate kinase-associated neurodegeneration.
Neuroacanthocytosis
Alterations of Red Cell Membrane Properties in Nneuroacanthocytosis.
Neuroaxonal Dystrophies
Iron Accumulation in Syndromes of Neurodegeneration with Brain Iron Accumulation 1 and 2 - causative or consequential?
Neurodegeneration with brain iron accumulation - Clinical syndromes and neuroimaging.
Neurodegeneration with brain iron accumulation.
Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations.
Neuroblastoma
Fosmetpantotenate (RE-024), a phosphopantothenate replacement therapy for pantothenate kinase-associated neurodegeneration: Mechanism of action and efficacy in nonclinical models.
Pantothenate kinase-2 (Pank2) silencing causes cell growth reduction, cell-specific ferroportin upregulation and iron deregulation.
Neurodegenerative Diseases
A novel gene mutation in PANK2 in a patient with an atypical form of pantothenate kinase-associated neurodegeneration.
A Scale to Assess Activities of Daily Living in Pantothenate Kinase-Associated Neurodegeneration.
A variation in PANK2 gene is causing Pantothenate kinase-associated Neurodegeneration in a family from Jammu and Kashmir - India.
Activation of human mitochondrial pantothenate kinase 2 by palmitoylcarnitine.
Coenzyme A: back in action.
Cofilin/Twinstar phosphorylation levels increase in response to impaired coenzyme a metabolism.
Cyclic Phosphopantothenic Acid Prodrugs for Treatment of Pantothenate Kinase-Associated Neurodegeneration.
Down-regulation of coasy, the gene associated with NBIA-VI, reduces Bmp signaling, perturbs dorso-ventral patterning and alters neuronal development in zebrafish.
Early-onset neurodegeneration with brain iron accumulation due to PANK2 mutation.
Hereditary causes of disturbed iron homeostasis in the central nervous system.
Novel compound heterozygous PANK2 gene mutations in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration.
Novel homozygous PANK2 mutation identified in a consanguineous Chinese pedigree with pantothenate kinase-associated neurodegeneration.
Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports.
PANK2 gene analysis confirms genetic heterogeneity in neurodegeneration with brain iron accumulation (NBIA) but mutations are rare in other types of adult neurodegenerative disease.
Pantethine rescues a Drosophila model for pantothenate kinase-associated neurodegeneration.
PKAN neurodegeneration and residual PANK2 activities in patient erythrocytes.
Proposed Therapies for Pantothenate-Kinase-Associated Neurodegeneration.
Rare causes of hereditary iron overload.
Status dystonicus: management and prevention in children at high risk.
Neurologic Manifestations
Deprivation of pantothenic acid elicits a movement disorder and azoospermia in a mouse model of pantothenate kinase-associated neurodegeneration.
pantothenate kinase deficiency
Acetyl-4'-phosphopantetheine is stable in serum and prevents phenotypes induced by pantothenate kinase deficiency.
Localization and regulation of mouse pantothenate kinase 2.
Pank1 deletion in leptin-deficient mice reduces hyperglycaemia and hyperinsulinaemia and modifies global metabolism without affecting insulin resistance.
Pantothenate kinase 2 deficiency: A neurodegeneration with brain iron accumulation.
Skin fibroblasts from pantothenate kinase-associated neurodegeneration patients show altered cellular oxidative status and have defective iron-handling properties.
[Anesthesia considerations for deep-brain stimulation in a patient with type-2 pantothenate kinase deficiency (Hallervorden-Spatz disease)]
[Tourettism, hemiballism and juvenile Parkinsonism: expanding the clinical spectrum of the neurodegeneration associated to pantothenate kinase deficiency (Hallervorden Spatz syndrome)]
Pantothenate Kinase-Associated Neurodegeneration
"Eye of tiger sign" mimic in an adolescent boy with mitochondrial membrane protein associated neurodegeneration (MPAN).
'Eye-of-the-Tiger' Sign and Classic Pantothenate Kinase Associated Neurodegeneration.
123I-ioflupane SPECT findings of pantothenate kinase-associated neurodegeneration.
A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effect.
A novel gene mutation in PANK2 in a patient with an atypical form of pantothenate kinase-associated neurodegeneration.
A novel homozygous variation in the PANK2 gene in two Persian siblings with atypical pantothenate kinase associated neurodegeneration.
A Novel Nonsense Mutation in PANK2 Gene in Two Patients with Pantothenate Kinase-Associated Neurodegeneration.
A novel PANK2 mutation in a 12-year-old Chinese boy with pantothenate kinase-associated neurodegeneration.
A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome.
A pantothenate kinase-deficient mouse model reveals a gene expression program associated with brain coenzyme a reduction.
A rare PANK2 deletion in the first north African patient affected with pantothenate kinase associated neurodegeneration.
A Scale to Assess Activities of Daily Living in Pantothenate Kinase-Associated Neurodegeneration.
A therapeutic approach to pantothenate kinase associated neurodegeneration.
A variation in PANK2 gene is causing Pantothenate kinase-associated Neurodegeneration in a family from Jammu and Kashmir - India.
Abnormal Vasculature Development in Zebrafish Embryos with Reduced Expression of Pantothenate Kinase 2 Gene.
Absence 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.
Alterations of Red Cell Membrane Properties in Nneuroacanthocytosis.
An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria.
Anticholinergic-responsive gait freezing in a patient with pantothenate kinase-associated neurodegeneration.
Atypical Hallervorden-Spatz disease with preserved cognition and obtrusive obsessions and compulsions.
Atypical pantothenate kinase-associated neurodegeneration with PANK2 mutations : clinical description and a review of the literature.
Basal ganglia calcification and novel compound heterozygous mutations in the PANK2 gene in a Chinese boy with classic Pantothenate kinase-associated neurodegeneration: A case report.
Biochemical properties of human pantothenate kinase 2 isoforms and mutations linked to pantothenate kinase-associated neurodegeneration.
Case report: MR spectroscopy in pantothenate kinase-2 associated neurodegeneration.
Changes in Red Blood Cell membrane lipid composition: A new perspective into the pathogenesis of PKAN.
Characterization of the human PANK2 promoter.
Childhood disorders of neurodegeneration with brain iron accumulation (NBIA).
Clinical and genetic delineation of neurodegeneration with brain iron accumulation.
Clinical and genetic features of PKAN patients in a tertiary centre in Turkey.
CLINICAL EFFECT OF A MUTATION (p.Glu322Asp, c.966 G>T) IN PANK2 GENE IN A FAMILY WITH ATYPICAL PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION.
Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration.
Clinical, imaging, and molecular findings in a sample of Mexican families with pantothenate kinase associated neurodegeneration.
Conversion disorder as initial diagnosis in pantothenate kinase associated neurodegeneration.
Correction of a genetic deficiency in pantothenate kinase 1 using phosphopantothenate replacement therapy.
Cyclic Phosphopantothenic Acid Prodrugs for Treatment of Pantothenate Kinase-Associated Neurodegeneration.
De novo CoA biosynthesis is required to maintain DNA integrity during development of the Drosophila nervous system.
Deep brain stimulation as treatment for dystonic storm in pantothenate kinase-associated neurodegeneration syndrome: case report of a patient with homozygous C.628 2 T?>?G mutation of the PANK2 gene.
Deep Brain Stimulation in Pantothenate Kinase Associated Neurodegeneration: challenges for the future.
Does lesioning surgery have a role in the management of multietiological tremor in the era of Deep Brain Stimulation?
Early-onset neurodegeneration with brain iron accumulation due to PANK2 mutation.
Efficacy of botulinum toxin A treatment in a case of pantothenate kinase associated neurodegeneration (PKAN).
Exploring Yeast as a Study Model of Pantothenate Kinase-Associated Neurodegeneration and for the Identification of Therapeutic Compounds.
Eye of the Tiger Sign in Pantothenate Kinase-Associated Neurodegeneration.
Eye-of-the-tiger Sign in Neurodegeneration with Brain Iron Accumulation.
First cases in the Czech Republic of the Hallervorden-Spatz disease resulting from mutation in the pantothenate kinase 2 gene.
First successful trial of preimplantation genetic diagnosis for pantothenate kinase-associated neurodegeneration.
Fosmetpantotenate (RE-024), a phosphopantothenate replacement therapy for pantothenate kinase-associated neurodegeneration: Mechanism of action and efficacy in nonclinical models.
Functional connectivity of the motor system in dystonia due to PKAN.
Gene symbol: PANK2. Disease: Pantothenate kinase associated neurodegeneration (PKAN).
Gene symbol: PANK2. Disease: pantothenate kinase-associated neurodegeneration (PKAN).
Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.
Hallervorden-Spatz Syndrome with Seizures.
Hallervorden-Spatz syndrome.
Harmful Iron-Calcium Relationship in Pantothenate kinase Associated Neurodegeneration.
Hereditary causes of disturbed iron homeostasis in the central nervous system.
Impaired Coenzyme A metabolism affects histone and tubulin acetylation in Drosophila and human cell models of pantothenate kinase associated neurodegeneration.
Inborn errors of coenzyme A metabolism and neurodegeneration.
Induction of Neuron-Specific Degradation of Coenzyme A Models Pantothenate Kinase-Associated Neurodegeneration by Reducing Motor Coordination in Mice.
Influence of the Plant Extract Complex "AdMax" on Global Gene Expression Levels in Cultured Human Fibroblasts.
Iron Accumulation in Syndromes of Neurodegeneration with Brain Iron Accumulation 1 and 2 - causative or consequential?
Iron toxicity as a potential factor in AMD.
Knock-down of pantothenate kinase 2 severely affects the development of the nervous and vascular system in zebrafish, providing new insights into PKAN disease.
Metabolism and energy requirements in pantothenate kinase-associated neurodegeneration.
Missense PANK2 mutation without "Eye of the tiger" sign: MR findings in a large group of patients with pantothenate kinase-associated neurodegeneration (PKAN).
Mitochondrial iron and energetic dysfunction distinguish fibroblasts and induced neurons from pantothenate kinase-associated neurodegeneration patients.
Mitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase-associated neurodegeneration.
Neuroacanthocytosis: new developments in a neglected group of dementing disorders.
Neurodegeneration with brain iron accumulation.
Neurodegeneration with brain iron accumulation: A cautionary tale.
Neuropathology and pathogenesis of extrapyramidal movement disorders: a critical update. II. Hyperkinetic disorders.
Novel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration.
Novel compound heterozygous mutations in the pantothenate kinase 2 gene in a korean patient with atypical pantothenate kinase associated neurodegeneration.
Novel compound heterozygous PANK2 gene mutations in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration.
Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration.
Novel homozygous PANK2 mutation causing atypical pantothenate kinase-associated neurodegeneration (PKAN) in a Cypriot family.
Novel homozygous PANK2 mutation identified in a consanguineous Chinese pedigree with pantothenate kinase-associated neurodegeneration.
Novel mutation in the PANK2 gene leads to pantothenate kinase-associated neurodegeneration in a Pakistani family.
Novel PANK2 gene mutations in korean patient with pantothenate kinase-associated neurodegeneration presenting unilateral dystonic tremor.
Novel PANK2 gene mutations in two Chinese siblings with atypical pantothenate kinase-associated neurodegeneration.
Novel PANK2 mutation discovered among South East Asian children living in Thailand affected with pantothenate kinase associated neurodegeneration.
Novel PANK2 mutation in a Chinese boy with PANK2-associated neurodegeneration: A case report and review of Chinese cases.
Pallidal neuronal apolipoprotein E in pantothenate kinase-associated neurodegeneration recapitulates ischemic injury to the globus pallidus.
PANK2 gene analysis confirms genetic heterogeneity in neurodegeneration with brain iron accumulation (NBIA) but mutations are rare in other types of adult neurodegenerative disease.
PANK2 mutation screening recommended to confirm diagnosis of pantothenate kinase-associated neurodegeneration.
PANK2 p.A170fs?a novel pathogenetic mutation, compound with PANK2 p.R440P, causing pantothenate kinase Associated neurodegeneration in a Chinese family.
Pantethine rescues a Drosophila model for pantothenate kinase-associated neurodegeneration.
Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model.
Pantothenate kinase 2 mutation with eye-of-the-tiger sign on magnetic resonance imaging in three siblings.
Pantothenate kinase associated neurodegeneration (Hallervorden - Spatz syndrome).
Pantothenate kinase associated neurodegeneration (Hallervorden-Spatz syndrome).
Pantothenate Kinase Associated Neurodegeneration in Two Brothers.
Pantothenate kinase-associated neurodegeneration (PKAN) in a child with Down syndrome. A case report and follow-up with MRI.
Pantothenate kinase-associated neurodegeneration (PKAN): molecular confirmation of a Turkish patient with a rare frameshift mutation in the coding region of the PANK2 gene.
Pantothenate kinase-associated neurodegeneration in Korea: recurrent R440P mutation in PANK2 and outcome of deep brain stimulation.
Pantothenate kinase-associated neurodegeneration in two Chinese children: identification of a novel PANK2 gene mutation.
Pantothenate kinase-associated neurodegeneration in two Taiwanese siblings: identification of a novel PANK2 gene mutation.
Pantothenate kinase-associated neurodegeneration initially presenting as postural tremor alone in a Japanese family with homozygous N245S substitutions in the pantothenate kinase gene.
Pantothenate kinase-associated neurodegeneration is not a synucleinopathy.
Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model.
Pantothenate kinase-associated neurodegeneration: Clinical aspects, diagnosis and treatments.
Pantothenate kinase-associated neurodegeneration: novel mutations in the PANK2 gene in an Argentinean young woman.
Pantothenate Rescues Iron Accumulation in Pantothenate Kinase-Associated Neurodegeneration Depending on the Type of Mutation.
Phenotypes and genotypes of patients with pantothenate kinase-associated neurodegeneration in Asian and Caucasian populations: 2 cases and literature review.
Precision medicine in pantothenate kinase-associated neurodegeneration.
Pyruvate dehydrogenase E2 deficiency: A potentially treatable cause of episodic dystonia.
Rare causes of hereditary iron overload.
Siblings with the adult-onset slowly progressive type of pantothenate kinase-associated neurodegeneration and a novel mutation, Ile346Ser, in PANK2: clinical features and (99m)Tc-ECD brain perfusion SPECT findings.
The "Eye-of-the-Tiger" Sign may be Absent in the Early Stages of Classic Pantothenate Kinase Associated Neurodegeneration.
The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration.
The eye-of-the-tiger sign is not a reliable disease marker for Hallervorden-Spatz syndrome.
Transcranial sonography in pantothenate kinase-associated neurodegeneration.
Turnover rate of coenzyme A in mouse brain and liver.
[123I]FP-CIT SPECT findings in two patients with Hallervorden-Spatz disease with homozygous mutation in PANK2 gene.
[Clinical manifestations and detection of pantothenate kinase 2 gene mutation in a patient with Hallervorden-Spatz syndrome]
[Genetics of hereditary iron overload]
[Hemochromatosis: one form of iron-overload diseases].
[Studies on PANK2 gene mutations in Chinese patients with Hallervorden-Spatz syndrome]
Paraplegia
Rare causes of dystonia parkinsonism.
Parkinson Disease
Does lesioning surgery have a role in the management of multietiological tremor in the era of Deep Brain Stimulation?
Mutations in the pantothenate kinase gene PANK2 are not associated with Parkinson disease.
Parkinsonian Disorders
A Novel PANK2 Mutation in a Patient with Atypical Pantothenate-Kinase-Associated Neurodegeneration Presenting with Adult-Onset Parkinsonism.
Dramatic Improvement in Juvenile Parkinsonism after Levodopa Treatment in a Patient Negative for the PANK2 Mutation.
Neurodegeneration with brain iron accumulation: clinical, radiographic and genetic heterogeneity and corresponding therapeutic options.
PANK2 gene analysis confirms genetic heterogeneity in neurodegeneration with brain iron accumulation (NBIA) but mutations are rare in other types of adult neurodegenerative disease.
Rare causes of dystonia parkinsonism.
Young-onset parkinsonism in a Hong Kong Chinese man with adult-onset Hallervorden-Spatz syndrome.
[Tourettism, hemiballism and juvenile Parkinsonism: expanding the clinical spectrum of the neurodegeneration associated to pantothenate kinase deficiency (Hallervorden Spatz syndrome)]
Periodontitis
Integrated analysis of long noncoding RNA-associated competing endogenous RNA network in periodontitis.
Propionic Acidemia
Pantothenate kinase activation relieves coenzyme A sequestration and improves mitochondrial function in mice with propionic acidemia.
Protein Deficiency
[Anesthesia considerations for deep-brain stimulation in a patient with type-2 pantothenate kinase deficiency (Hallervorden-Spatz disease)]
Retinal Degeneration
Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia.
Iron toxicity as a potential factor in AMD.
Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model.
Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model.
Retinal Telangiectasis
Novel mutation in PANK2 associated with retinal telangiectasis.
Retinitis Pigmentosa
Characterization of the human PANK2 promoter.
Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic.
PANK2 gene analysis confirms genetic heterogeneity in neurodegeneration with brain iron accumulation (NBIA) but mutations are rare in other types of adult neurodegenerative disease.
Unraveling the Hallervorden-Spatz syndrome: pantothenate kinase-associated neurodegeneration is the name.
Seizures
Hallervorden-Spatz Syndrome with Seizures.
Siderosis
Iron toxicity as a potential factor in AMD.
Staphylococcal Infections
Inhibitors of pantothenate kinase: novel antibiotics for staphylococcal infections.
Starvation
p53-dependent regulation of metabolic function through transcriptional activation of pantothenate kinase-1 gene.
Tremor
A Novel PANK2 Mutation in a Patient with Atypical Pantothenate-Kinase-Associated Neurodegeneration Presenting with Adult-Onset Parkinsonism.
Novel PANK2 gene mutations in korean patient with pantothenate kinase-associated neurodegeneration presenting unilateral dystonic tremor.
Pantothenate kinase-associated neurodegeneration initially presenting as postural tremor alone in a Japanese family with homozygous N245S substitutions in the pantothenate kinase gene.
Tuberculosis
Assessment of Mycobacterium tuberculosis Pantothenate kinase vulnerability through target knock down and mechanistically diverse inhibitors.
Biochemical and structural studies of mutants indicate concerted movement of the dimer interface and ligand-binding region of Mycobacterium tuberculosis pantothenate kinase.
Essentiality and functional analysis of type I and type III pantothenate kinases of Mycobacterium tuberculosis.
Expression, purification, crystallization and preliminary X-ray crystallographic analysis of pantothenate kinase from Mycobacterium tuberculosis.
Investigation of the anti-TB potential of selected propolis constituents using a molecular docking approach.
Location and conformation of pantothenate and its derivatives in Mycobacterium tuberculosis pantothenate kinase: insights into enzyme action.
M. tuberculosis pantothenate kinase: dual substrate specificity and unusual changes in ligand locations.
Molecular docking studies on InhA, MabA and PanK enzymes from Mycobacterium tuberculosis of ellagic acid derivatives from Ludwigia adscendens and Trewia nudiflora.
Mycobacterium tuberculosis pantothenate kinase: possible changes in location of ligands during enzyme action.
Screening, identification, and characterization of mechanistically diverse inhibitors of the Mycobacterium tuberculosis enzyme, pantothenate kinase (CoaA).
Structural and biochemical characterization of compounds inhibiting Mycobacterium tuberculosis pantothenate kinase.
The first synthesis of podocarflavone A and its analogs and evaluation of their antimycobacterial potential against Mycobacterium tuberculosis with the support of virtual screening.
Ventricular Dysfunction
Cardiac PANK1 Deletion Exacerbates Ventricular Dysfunction During Pressure Overload.
Whooping Cough
Crystal structure of a type III pantothenate kinase: insight into the mechanism of an essential coenzyme A biosynthetic enzyme universally distributed in bacteria.