Defective presynaptic choline transport underlies hereditary motor neuropathy. - Wikidata - wikimedia - TriplyDB

Defective presynaptic choline transport underlies hereditary motor neuropathy.

Defective presynaptic choline transport underlies hereditary motor neuropathy.

http://www.wikidata.org/entity/Q34310899

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Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy Drosophila melanogaster as a genetic model system to study neurotransmitter transporters.Identification and characterization of ML352: a novel, noncompetitive inhibitor of the presynaptic choline transporter.Synthesis and structure-activity relationships of a series of 4-methoxy-3-(piperidin-4-yl)oxy benzamides as novel inhibitors of the presynaptic choline transporter.The Genetics of Spinal Muscular Atrophy: Progress and Challenges.Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease.Genetic heterogeneity of motor neuropathies Exome sequencing greatly expedites the progressive research of Mendelian diseases.Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success.An overview of inborn errors of complex lipid biosynthesis and remodelling.The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.Hemicholinium-3 sensitive choline transport in human T lymphocytes: Evidence for use as a proxy for brain choline transporter (CHT) capacity.Choline transporter hemizygosity results in diminished basal extracellular dopamine levels in nucleus accumbens and blunts dopamine elevations following cocaine or nicotine.Differential impact of genetically modulated choline transporter expression on the release of endogenous versus newly synthesized acetylcholine.Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A)Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions.Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients.The unfolding landscape of the congenital myasthenic syndromes.Defective SLC5A7 does not cotransport Cho; Cl-; Na+ from extracellular region to cytosol Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies.Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A)_R-HSA-5619102

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P2860

Defective presynaptic choline transport underlies hereditary motor neuropathy.

http://www.wikidata.org/entity/Q34310899

description

2012 nî lūn-bûn

@nan

2012 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

2012 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2012年の論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年论文

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name

Defective presynaptic choline transport underlies hereditary motor neuropathy.

@ast

Defective presynaptic choline transport underlies hereditary motor neuropathy.

@en

Defective presynaptic choline transport underlies hereditary motor neuropathy.

@nl

type

label

Defective presynaptic choline transport underlies hereditary motor neuropathy.

@ast

Defective presynaptic choline transport underlies hereditary motor neuropathy.

@en

Defective presynaptic choline transport underlies hereditary motor neuropathy.

@nl

prefLabel

Defective presynaptic choline transport underlies hereditary motor neuropathy.

@ast

Defective presynaptic choline transport underlies hereditary motor neuropathy.

@en

Defective presynaptic choline transport underlies hereditary motor neuropathy.

@nl

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J.AJHG.2012.09.019

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American Journal of Human Genetics

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Defective presynaptic choline transport underlies hereditary motor neuropathy

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Ajith Nair

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Ali Al-Memar

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Alicia M Ruggiero

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Andrew H Crosby

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Hamid Modarres

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Jane Wright

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Katherine J Dick

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Katy E S Barwick

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Mary M Reilly

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Matt E Hurles

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P2860

An electric lobe suppressor for a yeast choline transport mutation belongs to a new family of transporter-like proteins

Molecular architecture of the neuromuscular junction

Molecular cloning of a human, hemicholinium-3-sensitive choline transporter

Protein kinase C activation regulates human serotonin transporters in HEK-293 cells via altered cell surface expression

Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly

Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome

Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations

Aberrant patterning of neuromuscular synapses in choline acetyltransferase-deficient mice

Constitutive high-affinity choline transporter endocytosis is determined by a carboxyl-terminal tail dileucine motif

Lethal impairment of cholinergic neurotransmission in hemicholinium-3-sensitive choline transporter knockout mice

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233393506

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