Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. - Wikidata - wikimedia - TriplyDB

Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein.

Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein.

http://www.wikidata.org/entity/Q34308654

about

Supernatant protein factor, which stimulates the conversion of squalene to lanosterol, is a cytosolic squalene transfer protein and enhances cholesterol biosynthesis Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families Crystal structure of human alpha-tocopherol transfer protein bound to its ligand: implications for ataxia with vitamin E deficiency Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1 Vitamin E, antioxidant and nothing more Friedreich ataxia: an overview More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia Syndromes Tocotrienols: the lesser known form of natural vitamin E Effects of vitamin E on cognitive performance during ageing and in Alzheimer's disease Intracellular transport of fat-soluble vitamins A and E Resurrection of a functional phosphatidylinositol transfer protein from a pseudo-Sec14 scaffold by directed evolution Dimeric Sfh3 has structural changes in its binding pocket that are associated with a dimer-monomer state transformation induced by substrate binding Ataxia.Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue Complexity of vitamin E metabolism Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes Increased atherosclerosis in hyperlipidemic mice deficient in alpha -tocopherol transfer protein and vitamin E Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia alpha-tocopherol transfer protein stimulates the secretion of alpha-tocopherol from a cultured liver cell line through a brefeldin A-insensitive pathway A novel role for α-tocopherol transfer protein (α-TTP) in protecting against chloroquine toxicity Vitamin E is essential for mouse placentation but not for embryonic development itself Free radicals and hearing. Cause, consequence, and criteria Engineering tocopherol selectivity in α-TTP: a combined in vitro/in silico study Conformational dynamics of the major yeast phosphatidylinositol transfer protein sec14p: insight into the mechanisms of phospholipid exchange and diseases of sec14p-like protein deficiencies.Autosomal recessive cerebellar ataxias.Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study.A function for the vitamin E metabolite alpha-tocopherol quinone as an essential enzyme cofactor for the mitochondrial fatty acid desaturases.The Sec14 superfamily and mechanisms for crosstalk between lipid metabolism and lipid signaling Diagnosis of inherited metabolic disorders affecting the nervous system Alpha-Tocopherol Transfer Protein (alpha-TTP): Insights from Alpha-Tocopherol Transfer Protein Knockout Mice.Delayed-onset ataxia in mice lacking alpha -tocopherol transfer protein: model for neuronal degeneration caused by chronic oxidative stress Cross-species analyses identify the BNIP-2 and Cdc42GAP homology (BCH) domain as a distinct functional subclass of the CRAL_TRIO/Sec14 superfamily Hepatic α-tocopherol transfer protein: ligand-induced protection from proteasomal degradation.Tocopherol transfer protein sensitizes prostate cancer cells to vitamin E.EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. First of two parts.Localization of alpha-tocopherol transfer protein in trophoblast, fetal capillaries' endothelium and amnion epithelium of human term placenta.The yeast connection to Friedreich ataxia.Unleashing the untold and misunderstood observations on vitamin E.State of the art review: molecular diagnosis of inherited movement disorders. Movement Disorders Society task force on molecular diagnosis.

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P2860

Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein.

http://www.wikidata.org/entity/Q34308654

description

1995 nî lūn-bûn

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1995 թուականի Փետրուարին հրատարակուած գիտական յօդուած

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1995 թվականի փետրվարին հրատարակված գիտական հոդված

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1995年の論文

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1995年学术文章

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1995年学术文章

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Ataxia with isolated vitamin E ...... a-tocopherol transfer protein.

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Ataxia with isolated vitamin E ...... a-tocopherol transfer protein.

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Ataxia with isolated vitamin E ...... a-tocopherol transfer protein.

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Ataxia with isolated vitamin E ...... a-tocopherol transfer protein.

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Ataxia with isolated vitamin E ...... a-tocopherol transfer protein.

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Ataxia with isolated vitamin E ...... a-tocopherol transfer protein.

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Ataxia with isolated vitamin E ...... a-tocopherol transfer protein.

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Ataxia with isolated vitamin E ...... a-tocopherol transfer protein.

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Ataxia with isolated vitamin E ...... a-tocopherol transfer protein.

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Nature Genetics

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Ataxia with isolated vitamin E ...... a-tocopherol transfer protein.

@en

P2093

Arai H

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Arita M

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Ben Hamida M

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Hentati F

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Inoue K

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Kayden H

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Koenig M

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Mandel JL

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Ouahchi K

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Sokol R

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P2860

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia

Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping.

A first-generation physical map of the human genome.

Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families.

Spinocerebellar degeneration associated with a selective defect of vitamin E absorption.

VITAMIN E AND NEUROLOGICAL FUNCTION

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141-145

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scholarly article

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10.1038/NG0295-141

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2

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9

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1995-02-01T00:00:00Z

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7719340

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P921

vitamin deficiency