CLC-3 deficiency leads to phenotypes similar to human neuronal ceroid lipofuscinosis (Q48583470)

13 February 2018

title

CLC-3 deficiency leads to phenotypes similar to human neuronal ceroid lipofuscinosis (English)

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13 February 2018

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13 February 2018

author name string

Momono Yoshikawa

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13 February 2018

Shinichi Uchida

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13 February 2018

Junji Ezaki

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13 February 2018

Tatemitsu Rai

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13 February 2018

Atsushi Hayama

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13 February 2018

Katsuki Kobayashi

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13 February 2018

Yujiro Kida

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13 February 2018

Masaki Noda

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13 February 2018

Yasuo Uchiyama

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13 February 2018

Fumiaki Marumo

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13 February 2018

Eiki Kominami

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13 February 2018

Sei Sasaki

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13 February 2018

publication date

1 June 2002

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13 February 2018

published in

Genes to Cells

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13 February 2018

volume

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13 February 2018

issue

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13 February 2018

page(s)

597-605

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13 February 2018

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

cites work

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Follow-up study of subunit c of mitochondrial ATP synthase (SCMAS) in Batten disease and in unrelated lysosomal disorders

21 January 2018

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A lysosomal proteinase, the late infantile neuronal ceroid lipofuscinosis gene (CLN2) product, is essential for degradation of a hydrophobic protein, the subunit c of ATP synthase.

21 January 2018

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Pore-forming segments in voltage-gated chloride channels

21 January 2018

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ClC-5, the chloride channel mutated in Dent's disease, colocalizes with the proton pump in endocytotically active kidney cells

21 January 2018

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Lysosomal storage of subunit c of mitochondrial ATP synthase in Batten's disease (ceroid-lipofuscinosis)

21 January 2018

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Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs)

21 January 2018

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Isolation of a novel gene underlying batten disease, CLN3

21 January 2018

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Biosynthesis and Intracellular Targeting of the CLN3 Protein Defective in Batten Disease

21 January 2018

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Cloning and expression of a protein kinase C-regulated chloride channel abundantly expressed in rat brain neuronal cells

21 January 2018

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The skeletal muscle chloride channel in dominant and recessive human myotonia

21 January 2018

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Specific storage of subunit c of mitochondrial ATP synthase in lysosomes of neuronal ceroid lipofuscinosis (Batten's disease)

21 January 2018

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

21 January 2018

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Overt nephrogenic diabetes insipidus in mice lacking the CLC-K1 chloride channel.

21 January 2018

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ClC-5 Cl- -channel disruption impairs endocytosis in a mouse model for Dent's disease.

21 January 2018

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

21 January 2018

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Mice lacking both subunits of lysosomal beta-hexosaminidase display gangliosidosis and mucopolysaccharidosis

21 January 2018

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

21 January 2018

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Tissue-specific N-glycosylation of the ClC-3 chloride channel.

21 January 2018

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

21 January 2018

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Association of Mutations in a Lysosomal Protein with Classical Late-Infantile Neuronal Ceroid Lipofuscinosis

21 January 2018

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Chloride concentration in endosomes measured using a ratioable fluorescent Cl- indicator: evidence for chloride accumulation during acidification

21 January 2018

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

21 January 2018

1 reference

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A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration

21 January 2018

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Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

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10.1046/J.1365-2443.2002.00539.X

21 January 2018

Identifiers

DOI

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