Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia. - Wikidata - wikimedia - TriplyDB

Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia.

Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia.

http://www.wikidata.org/entity/Q34899500

about

Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms 2-Hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia Lysosomal storage diseases and the heat shock response: convergences and therapeutic opportunities CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia.Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology Neurodegeneration with brain iron accumulation: diagnosis and management Genetics of neurodegeneration with brain iron accumulation Normal fur development and sebum production depends on fatty acid 2-hydroxylase expression in sebaceous glands Central nervous system dysfunction in a mouse model of FA2H deficiency Nimodipine but Not Nifedipine Promotes Expression of Fatty Acid 2-Hydroxylase in a Surgical Stress Model Based on Neuro2a Cells Neurodegeneration with brain iron accumulation: an overview.Heterozygous FA2H mutations in autism spectrum disorders.Fatty acid 2-Hydroxylation in mammalian sphingolipid biology Myelination in the absence of UDP-galactose:ceramide galactosyl-transferase and fatty acid 2 -hydroxylase.Childhood disorders of neurodegeneration with brain iron accumulation (NBIA).2'-hydroxy C16-ceramide induces apoptosis-associated proteomic changes in C6 glioma cells.Biochemistry and genetics of inherited disorders of peroxisomal fatty acid metabolism Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration.Metabolism of very long-chain Fatty acids: genes and pathophysiology.Lipid metabolism in myelinating glial cells: lessons from human inherited disorders and mouse models.Δ(9)-THC modulation of fatty acid 2-hydroxylase (FA2H) gene expression: possible involvement of induced levels of PPARα in MDA-MB-231 breast cancer cells.Disrupted SOX10 function causes spongiform neurodegeneration in gray tremor mice.Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.The use of next-generation sequencing in movement disorders Stereospecificity of fatty acid 2-hydroxylase and differential functions of 2-hydroxy fatty acid enantiomers.Activated immune response in an inherited leukodystrophy disease caused by the loss of oligodendrocyte gap junctions.SCP2 mutations and neurodegeneration with brain iron accumulation.The Crystal Structure of an Integral Membrane Fatty Acid α-Hydroxylase.Review: Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation: unifying theories.Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia.2'-Hydroxy ceramide in membrane homeostasis and cell signaling.Hereditary spastic paraplegias: membrane traffic and the motor pathway.Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations.Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases.Excess iron harms the brain: the syndromes of neurodegeneration with brain iron accumulation (NBIA).Pathophysiology and treatment of neurodegeneration with brain iron accumulation in the pediatric population.Human genetic disorders of sphingolipid biosynthesis.Defective lipid metabolism in neurodegeneration with brain iron accumulation (NBIA) syndromes: not only a matter of iron.

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P2860

Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia.

http://www.wikidata.org/entity/Q34899500

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2008 nî lūn-bûn

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2008 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

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Mutations in the fatty acid 2- ...... stic paraparesis and dystonia.

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Mutations in the fatty acid 2- ...... stic paraparesis and dystonia.

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Mutations in the fatty acid 2- ...... stic paraparesis and dystonia.

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Mutations in the fatty acid 2- ...... stic paraparesis and dystonia.

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J.AJHG.2008.10.010

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American Journal of Human Genetics

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Mutations in the fatty acid 2- ...... stic paraparesis and dystonia.

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Ann Saada

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Avraham Shaag

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Dov Soffer

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Hiroko Hama

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Ilana Taustein

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Itai Berger

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John Moshe Gomori

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Simon Edvardson

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Stanley H Korman

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P2860

Phytanoyl-CoA hydroxylase: recognition of 3-methyl-branched acyl-coAs and requirement for GTP or ATP and Mg(2+) in addition to its known hydroxylation cofactors

Wrapping it up: the cell biology of myelination

Site-directed mutagenesis by overlap extension using the polymerase chain reaction

A mammalian fatty acid hydroxylase responsible for the formation of alpha-hydroxylated galactosylceramide in myelin

FA2H-dependent fatty acid 2-hydroxylation in postnatal mouse brain

The human FA2H gene encodes a fatty acid 2-hydroxylase.

Hereditary spastic paraplegias: an update.

A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23.

Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia

Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy.

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