Mutations in antiquitin in individuals with pyridoxine-dependent seizures - Wikidata - awgldk - TriplyDB

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

http://www.wikidata.org/entity/Q28118156

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Genetic basis of hyperlysinemia Molecular characterization, expression analysis, and role of ALDH3B1 in the cellular protection against oxidative stress Aldehyde dehydrogenase 7A1 (ALDH7A1) attenuates reactive aldehyde and oxidative stress induced cytotoxicity Aldehyde dehydrogenase 7A1 (ALDH7A1) is a novel enzyme involved in cellular defense against hyperosmotic stress The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1 Identification of the 2-hydroxyglutarate and isovaleryl-CoA dehydrogenases as alternative electron donors linking lysine catabolism to the electron transport chain of Arabidopsis mitochondria Non-P450 aldehyde oxidizing enzymes: the aldehyde dehydrogenase superfamily Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels Expression and initial characterization of human ALDH3B1 Neuropathological Mechanisms of Seizures in Autism Spectrum Disorder Toward precision medicine in neurological diseases The search for circulating epilepsy biomarkers Aldehyde dehydrogenases in cellular responses to oxidative/electrophilic stress The treatment of super-refractory status epilepticus: a critical review of available therapies and a clinical treatment protocol The crystal structure of seabream antiquitin reveals the structural basis of its substrate specificity Role and structural characterization of plant aldehyde dehydrogenases from family 2 and family 7 Does Abiotic Stress Cause Functional B Vitamin Deficiency in Plants?Mouse aldehyde dehydrogenase ALDH3B2 is localized to lipid droplets via two C-terminal tryptophan residues and lipid modification The pediatric neurotransmitter disorders Metabolite damage and its repair or pre-emption Regulation of post-Golgi LH3 trafficking is essential for collagen homeostasis Clinical diagnosis, treatment, and ALDH7A1 mutations in pyridoxine-dependent epilepsy in three Chinese infants Vitamin B6 in plasma and cerebrospinal fluid of children Vertebrate Acyl CoA synthetase family member 4 (ACSF4-U26) is a β-alanine-activating enzyme homologous to bacterial non-ribosomal peptide synthetase Glial localization of antiquitin: implications for pyridoxine-dependent epilepsy Identification of a novel missense mutation in the ALDH7A1 gene in two unrelated Tunisian families with pyridoxine-dependent epilepsy.Plasma Pyridoxal 5´-Phosphate Level in Children with Intractable and Controlled Epilepsy.aldh7a1 regulates eye and limb development in zebrafish.Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).Aldehyde dehydrogenases: from eye crystallins to metabolic disease and cancer stem cells Aldehyde dehydrogenase 3B1 (ALDH3B1): immunohistochemical tissue distribution and cellular-specific localization in normal and cancerous human tissues Metabolite proofreading, a neglected aspect of intermediary metabolism.Seizures caused by pyridoxine (vitamin B6) deficiency in adults: A case report and literature review.Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations Pyridoxine-dependent seizures caused by alpha amino adipic semialdehyde dehydrogenase deficiency: the first polish case with confirmed biochemical and molecular pathology.Interaction of the SPG21 protein ACP33/maspardin with the aldehyde dehydrogenase ALDH16A1.Characterization of two distinct structural classes of selective aldehyde dehydrogenase 1A1 inhibitors.A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)Human aldehyde dehydrogenase genes: alternatively spliced transcriptional variants and their suggested nomenclature Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination.

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Mutations in antiquitin in individuals with pyridoxine-dependent seizures

http://www.wikidata.org/entity/Q28118156

description

2006 թուականի Մարտին հրատարակուած գիտական յօդուած

@hyw

2006 թվականի մարտին հրատարակված գիտական հոդված

@hy

artículu científicu espublizáu en 2006

@ast

im März 2006 veröffentlichter wissenschaftlicher Artikel

@de

scientific journal article

@en

vedecký článok (publikovaný 2006/03/01)

@sk

vědecký článek publikovaný v roce 2006

@cs

wetenschappelijk artikel (gepubliceerd op 2006/03/01)

@nl

наукова стаття, опублікована в березні 2006

@uk

مقالة علمية (نشرت في مارس 2006)

@ar

name

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

@ast

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

@en

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

@nl

type

label

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

@ast

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

@en

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

@nl

prefLabel

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

@ast

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

@en

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

@nl

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P356

P1433

Nature Medicine

P1476

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

@en

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Barbara Plecko

http://www.w3.org/2001/XMLSchema#string

Bernhard Weschke

http://www.w3.org/2001/XMLSchema#string

Birgit Uhlenberg

http://www.w3.org/2001/XMLSchema#string

Cornelis Jakobs

http://www.w3.org/2001/XMLSchema#string

Eduard Struys

http://www.w3.org/2001/XMLSchema#string

Michèl A. A. P. Willemsen

http://www.w3.org/2001/XMLSchema#string

Peter Baxter

http://www.w3.org/2001/XMLSchema#string

Peter T. Clayton

http://www.w3.org/2001/XMLSchema#string

Philippa B. Mills

http://www.w3.org/2001/XMLSchema#string

Uta Tacke

http://www.w3.org/2001/XMLSchema#string

P2860

Pyridoxal phosphate de-activation by pyrroline-5-carboxylic acid. Increased risk of vitamin B6 deficiency and seizures in hyperprolinemia type II

A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31

Pyridoxal phosphate is better than pyridoxine for controlling idiopathic intractable epilepsy.

Pyridoxine dependent epilepsy: a suggestive electroclinical pattern.

A new function for nonsense-mediated mRNA-decay factors.

Relationships within the aldehyde dehydrogenase extended family.

Homology between a human protein and a protein of the green garden pea.

Differences in the roles of conserved glutamic acid residues in the active site of human class 3 and class 2 aldehyde dehydrogenases

Role of the C-terminal tail on the quaternary structure of aldehyde dehydrogenases.

First purification of the antiquitin protein and demonstration of its enzymatic activity.

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P304

307–309

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scholarly article

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1741743

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P356

10.1038/NM1366

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P407

P433

3

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12

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Matthias R Baumgartner

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2006-03-01T00:00:00Z

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16491085

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