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Genetics of neurodegeneration with brain iron accumulation

Genetics of neurodegeneration with brain iron accumulation

http://www.wikidata.org/entity/Q28304487

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Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood Iron dysregulation in Huntington's disease Metals, oxidative stress and neurodegeneration: a focus on iron, manganese and mercury Regulation of the Golgi complex by phospholipid remodeling enzymes Induction of Neuron-Specific Degradation of Coenzyme A Models Pantothenate Kinase-Associated Neurodegeneration by Reducing Motor Coordination in Mice The role of iron in brain ageing and neurodegenerative disorders.Bilateral symmetrical basal ganglia and thalamic lesions in children: an update (2015).WDR45 mutations in three male patients with West syndrome.Neuroferritinopathy: a new inborn error of iron metabolism Iron homeostasis in peripheral nervous system, still a black box?Brain, blood, and iron: perspectives on the roles of erythrocytes and iron in neurodegeneration.Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.The pallidopyramidal syndromes: nosology, aetiology and pathogenesis.Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration Calcium-independent phospholipases A2 and their roles in biological processes and diseases.β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient Lessons from a pair of siblings with BPAN.Disorders associated with systemic or local iron overload: from pathophysiology to clinical practice.A PLA1-2 punch regulates the Golgi complex.Gaucher disease and the synucleinopathies: refining the relationship.Brain iron accumulation in aging and neurodegenerative disorders.Genetic diagnosis of hyperkinetic movement disorders.Iron deposits in the chronically inflamed central nervous system and contributes to neurodegeneration.Parkinsonism and inborn errors of metabolism.Defective lipid metabolism in neurodegeneration with brain iron accumulation (NBIA) syndromes: not only a matter of iron.The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.Novel compound heterozygous frameshift mutations of C2orf37 in a familial Indian case of Woodhouse-Sakati syndrome.Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports.An international registry for neurodegeneration with brain iron accumulation Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration.As iron goes, so goes disease?METABOLISM OF IRON STORES.PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation.Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation.Neurodegenerative disorder with brain iron accumulation previously known as SENDA syndrome now genetically determined.

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P2860

Genetics of neurodegeneration with brain iron accumulation

http://www.wikidata.org/entity/Q28304487

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2011 թուականի Յունիսին հրատարակուած գիտական յօդուած

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2011年の論文

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Genetics of neurodegeneration with brain iron accumulation

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Genetics of neurodegeneration with brain iron accumulation

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Genetics of neurodegeneration with brain iron accumulation

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Genetics of neurodegeneration with brain iron accumulation

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Genetics of neurodegeneration with brain iron accumulation

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Genetics of neurodegeneration with brain iron accumulation

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Genetics of neurodegeneration with brain iron accumulation

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Genetics of neurodegeneration with brain iron accumulation

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Genetics of neurodegeneration with brain iron accumulation

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Current Neurology and Neuroscience Reports

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Genetics of neurodegeneration with brain iron accumulation

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Allison Gregory

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Susan J Hayflick

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A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities

Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome

Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase

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

A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans

Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN).

Fatty acid 2-Hydroxylation in mammalian sphingolipid biology

Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism

Pantethine rescues a Drosophila model for pantothenate kinase-associated neurodegeneration

Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease.

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neurodegeneration with brain iron accumulation

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