The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway (Q45116939)

9 December 2017

title

The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway (English)

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9 December 2017

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Anthony E Lang

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Andrzej Friedman

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Hubert Kwiecinski

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Hsien-Yang Lee

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Yong Huang

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Andrew H Ahn

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Georg W J Auburger

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Massimo Pandolfo

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Jorgen E Nielsen

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Yuri Averyanov

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Serenella Servidei

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Patrick Van Bogaert

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Marc J Abramowicz

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Michiko K Bruno

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Beatrice F Sorensen

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9 December 2017

Ling Tang

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Ying-Hui Fu

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Louis J Ptácek

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David A Grimes

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9 December 2017

language of work or name

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20 October 2004

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9 December 2017

published in

Human Molecular Genetics

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9 December 2017

volume

13

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issue

24

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9 December 2017

page(s)

3161-3170

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Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies

9 December 2017

cites work

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Paroxysmal dystonic choreoathetosis: A family study and review of the literature

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Familial paroxysmal dystonic choreoathetosis: clinical findings in a large Japanese family and genetic linkage to 2q.

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Paroxysmal dyskinesias: clinical features and classification

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A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

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Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24

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A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1.

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Familial Infantile Convulsions and Paroxysmal Choreoathetosis: A New Neurological Syndrome Linked to the Pericentromeric Region of Human Chromosome 16

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Association of infantile convulsions with paroxysmal dyskinesias (ICCA syndrome): confirmation of linkage to human chromosome 16p12-q12 in a Chinese family

21 January 2018

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Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1.

21 January 2018

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A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197.

21 January 2018

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Gene locus FPD1 of the dystonic Mount-Reback type of autosomal-dominant paroxysmal choreoathetosis

21 January 2018

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Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis.

21 January 2018

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Enhancement of protein modeling by human intervention in applying the automatic programs 3D-JIGSAW and 3D-PSSM.

21 January 2018

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Crystal structure of human glyoxalase II and its complex with a glutathione thiolester substrate analogue

21 January 2018

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The Basal Ganglia and involuntary movements: impaired inhibition of competing motor patterns

21 January 2018

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Functional anatomy of thalamus and basal ganglia

21 January 2018

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Functional anatomy of the basal ganglia. I. The cortico-basal ganglia-thalamo-cortical loop

21 January 2018

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Pathophysiology of dystonia: a neuronal model

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The glyoxalase system in health and disease

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Molecular cloning, heterologous expression, and characterization of human glyoxalase II

21 January 2018

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Identification and Phenotypic Analysis of Two Glyoxalase II Encoding Genes from Saccharomyces cerevisiae,GLO2 and GLO4, and Intracellular Localization of the Corresponding Proteins

21 January 2018

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Heterologous expression, purification, and kinetic comparison of the cytoplasmic and mitochondrial glyoxalase II enzymes, Glo2p and Glo4p, from Saccharomyces cerevisiae.

21 January 2018

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Pharmacology of methylglyoxal: formation, modification of proteins and nucleic acids, and enzymatic detoxification--a role in pathogenesis and antiproliferative chemotherapy.

21 January 2018

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Selective vulnerability of spinal motor neurons to reactive dicarbonyl compounds, intermediate products of glycation, in vitro: implication of inefficient glutathione system in spinal motor neurons

21 January 2018

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Mutagens in coffee and other beverages

21 January 2018

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Tumor necrosis factor-induced modulation of glyoxalase I activities through phosphorylation by PKA results in cell death and is accompanied by the formation of a specific methylglyoxal-derived AGE

21 January 2018

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Effects of S-lactoylglutathione and inhibitors of glyoxalase I on histamine release from human leukocytes

21 January 2018

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T-Coffee: A novel method for fast and accurate multiple sequence alignment

21 January 2018

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CLUSTAL V: improved software for multiple sequence alignment

21 January 2018

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21 January 2018

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21 January 2018

Identifiers

DOI

10.1093/HMG/DDH330

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9 December 2017

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