(Q48209638)

9 February 2018

title

An alternative splicing variant in Clcn7-/- mice prevents osteopetrosis but not neural and retinal degeneration (English)

1 reference

9 February 2018

alternative mRNA splicing, via spliceosome

main subject

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I Rajan

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9 February 2018

R Read

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9 February 2018

D L Small

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9 February 2018

J Perrard

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9 February 2018

P Vogel

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9 February 2018

publication date

6 May 2010

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9 February 2018

published in

Veterinary Pathology

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9 February 2018

volume

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9 February 2018

issue

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9 February 2018

page(s)

663-675

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9 February 2018

Genetic diseases of acid-base transporters

cites work

1 reference

https://api.crossref.org/works/10.1177%2F0300985810370164

Lectin histochemistry of infantile lysosomal storage disease associated with osteopetrosis

21 January 2018

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The neuropathogenic contributions of lysosomal dysfunction

21 January 2018

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A clinical and molecular overview of the human osteopetroses

21 January 2018

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Lysosomal hydrolases of different classes are abnormally distributed in brains of patients with Alzheimer disease

21 January 2018

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Developmental cell death: morphological diversity and multiple mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985810370164

Progress towards understanding disease mechanisms in small vertebrate models of neuronal ceroid lipofuscinosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985810370164

Genetics, pathogenesis and complications of osteopetrosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985810370164

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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https://api.crossref.org/works/10.1177%2F0300985810370164

Neuronal loss and brain atrophy in mice lacking cathepsins B and L

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985810370164

Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985810370164

Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice

21 January 2018

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The neuronal ceroid-lipofuscinoses

21 January 2018

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The neuronal ceroid-lipofuscinoses: from past to present

21 January 2018

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Protease inhibitors as a model for NCL disease, with special emphasis on the infantile and adult forms

21 January 2018

1 reference

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Inhibitors of lysosomal enzymes: accumulation of lipofuscin-like dense bodies in the brain

21 January 2018

1 reference

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Neuronal ceroid lipofuscinoses

21 January 2018

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An animal model of the infantile type of neuronal ceroid-lipofuscinosis

21 January 2018

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https://api.crossref.org/works/10.1177%2F0300985810370164

Chloride channel diseases resulting from impaired transepithelial transport or vesicular function

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985810370164

Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985810370164

Participation of autophagy in storage of lysosomes in neurons from mouse models of neuronal ceroid-lipofuscinoses (Batten disease).

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985810370164

Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985810370164

ClC-7 requires Ostm1 as a beta-subunit to support bone resorption and lysosomal function

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985810370164

Experimental chloroquine retinopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985810370164

The genetic spectrum of human neuronal ceroid-lipofuscinoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985810370164

Protamine-Cre recombinase transgenes efficiently recombine target sequences in the male germ line of mice, but not in embryonic stem cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985810370164

Oxidative stress and autophagy in the regulation of lysosome-dependent neuron death.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985810370164

The chloride channel inhibitor NS3736 [corrected] prevents bone resorption in ovariectomized rats without changing bone formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985810370164

You say lipofuscin, we say ceroid: defining autofluorescent storage material

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985810370164

Cathepsin D deficiency induces persistent neurodegeneration in the absence of Bax-dependent apoptosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985810370164

Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985810370164

The mutational spectrum of human malignant autosomal recessive osteopetrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985810370164

Neurological aspects of osteopetrosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985810370164

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985810370164

Different effects of chloroquine and hydroxychloroquine on lysosomal function in cultured retinal pigment epithelial cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985810370164

Murine cathepsin F deficiency causes neuronal lipofuscinosis and late-onset neurological disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985810370164

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985810370164

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985810370164

Lessons from osteopetrotic mutations in animals: impact on our current understanding of osteoclast biology

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985810370164

Comparative pathology of murine mucolipidosis types II and IIIC

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985810370164

Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985810370164

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0300985810370164

21 January 2018

Identifiers

DOI

10.1177/0300985810370164

1 reference

9 February 2018

release_5ro5crbiq5b45aoqyq3vb7sedu

Fatcat ID

0 references

1 reference

9 February 2018