CLC-3 deficiency leads to phenotypes similar to human neuronal ceroid lipofuscinosis. - Test2 - elhamkhani - TriplyDB

CLC-3 deficiency leads to phenotypes similar to human neuronal ceroid lipofuscinosis.

CLC-3 deficiency leads to phenotypes similar to human neuronal ceroid lipofuscinosis.

http://www.wikidata.org/entity/Q48583470

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Diversity of Cl(-) channels The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter Discovery of CLC transport proteins: cloning, structure, function and pathophysiology Presynaptic CLC-3 determines quantal size of inhibitory transmission in the hippocampus Murine cathepsin F deficiency causes neuronal lipofuscinosis and late-onset neurological disease.Embryonic nervous system genes predominate in searches for dinucleotide simple sequence repeats flanked by conserved sequences.Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6.Characterization of the canine CLCN3 gene and evaluation as candidate for late-onset NCL.The genetic spectrum of human neuronal ceroid-lipofuscinoses.Looking chloride channels straight in the eye: bestrophins, lipofuscinosis, and retinal degeneration.Novel CLC3 transcript variants in blood eosinophils and increased CLC3 expression in nasal lavage and blood eosinophils of asthmatics.The intracellular location and function of proteins of neuronal ceroid lipofuscinoses.Selectivity and types of cell death in the neuronal ceroid lipofuscinoses.Chloride channel diseases resulting from impaired transepithelial transport or vesicular function Neuronal ClC-3 Splice Variants Differ in Subcellular Localizations, but Mediate Identical Transport Functions.Salt, chloride, bleach, and innate host defense.ClC3 is a critical regulator of the cell cycle in normal and malignant glial cells Neuronal pigmented autophagic vacuoles: lipofuscin, neuromelanin, and ceroid as macroautophagic responses during aging and disease.Physiological implications of the regulation of vacuolar H+-ATPase by chloride ions.The granular chloride channel ClC-3 is permissive for insulin secretion.Cell biology and physiology of CLC chloride channels and transporters.Open chromatin profiling of human postmortem brain infers functional roles for non-coding schizophrenia loci.Proton electrochemical gradient: Driving and regulating neurotransmitter uptake.ClC Channels and Transporters: Structure, Physiological Functions, and Implications in Human Chloride Channelopathies.Lack of association between stretch-activated and volume-activated Cl⁻ currents in hepatocellular carcinoma cells.Involvement of ClC-3 chloride/proton exchangers in controlling glutamatergic synaptic strength in cultured hippocampal neurons.Overexpression of CLC-3 in HEK293T cells yields novel currents that are pH dependent.Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration.Intracellular ClC-3 chloride channels promote bone resorption in vitro through organelle acidification in mouse osteoclasts.Hypotonic activation of short ClC3 isoform is modulated by direct interaction between its cytosolic C-terminal tail and subcortical actin filaments.A novel role of the Batten disease gene CLN3: association with BMP synthesis.Neuronal ceroid-lipofuscinosis in a Holstein steer.Preferential association with ClC-3 permits sorting of ClC-4 into endosomal compartments.An alternative splicing variant in Clcn7-/- mice prevents osteopetrosis but not neural and retinal degeneration.CLC-3 chloride channels moderate long-term potentiation at Schaffer collateral-CA1 synapses.Accumulation of autofluorescent storage material in brain is accelerated by ischemia in chloride channel 3 gene-deficient mice.Targeted disruption of the mouse Asna1 gene results in embryonic lethality.Chloride and the endosomal-lysosomal pathway: emerging roles of CLC chloride transporters.Distinct neuropathologic phenotypes after disrupting the chloride transport proteins ClC-6 or ClC-7/Ostm1.CLC Chloride Channels and Transporters: From Genes to Protein Structure, Pathology and Physiology

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P2860

CLC-3 deficiency leads to phenotypes similar to human neuronal ceroid lipofuscinosis.

http://www.wikidata.org/entity/Q48583470

description

2002 nî lūn-bûn

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2002年学术文章

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2002年学术文章

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2002年学术文章

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2002年学术文章

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2002年學術文章

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2002年學術文章

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2002年學術文章

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name

CLC-3 deficiency leads to phenotypes similar to human neuronal ceroid lipofuscinosis.

@en

CLC-3 deficiency leads to phenotypes similar to human neuronal ceroid lipofuscinosis.

@nl

type

label

CLC-3 deficiency leads to phenotypes similar to human neuronal ceroid lipofuscinosis.

@en

CLC-3 deficiency leads to phenotypes similar to human neuronal ceroid lipofuscinosis.

@nl

prefLabel

CLC-3 deficiency leads to phenotypes similar to human neuronal ceroid lipofuscinosis.

@en

CLC-3 deficiency leads to phenotypes similar to human neuronal ceroid lipofuscinosis.

@nl

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CLC-3 deficiency leads to phenotypes similar to human neuronal ceroid lipofuscinosis.

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Atsushi Hayama

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Eiki Kominami

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Fumiaki Marumo

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Junji Ezaki

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Katsuki Kobayashi

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Masaki Noda

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Momono Yoshikawa

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Sei Sasaki

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Shinichi Uchida

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Tatemitsu Rai

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P2860

The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8

Batten's disease: clues to neuronal protein catabolism in lysosomes

The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum

Disruption of ClC-3, a chloride channel expressed on synaptic vesicles, leads to a loss of the hippocampus

Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs)

The skeletal muscle chloride channel in dominant and recessive human myotonia

Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease

Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis

CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis

Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III

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