A novel c.1135_1138delCTGT mutation in CLN3 leads to juvenile neuronal ceroid lipofuscinosis.

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Hemichannels in neurodegenerative diseases: is there a link to pathology?Nonsense-mediated decay in genetic disease: friend or foe?Using Patient-Specific Induced Pluripotent Stem Cells and Wild-Type Mice to Develop a Gene Augmentation-Based Strategy to Treat CLN3-Associated Retinal Degeneration

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P2860

A novel c.1135_1138delCTGT mutation in CLN3 leads to juvenile neuronal ceroid lipofuscinosis.

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http://www.wikidata.org/entity/Q47956189

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2013 nî lūn-bûn

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2013年の論文

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年学术文章

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A novel c.1135_1138delCTGT mut ...... euronal ceroid lipofuscinosis.

@en

A novel c.1135_1138delCTGT mut ...... euronal ceroid lipofuscinosis.

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type

Item

label

A novel c.1135_1138delCTGT mut ...... euronal ceroid lipofuscinosis.

@en

A novel c.1135_1138delCTGT mut ...... euronal ceroid lipofuscinosis.

@nl

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A novel c.1135_1138delCTGT mut ...... euronal ceroid lipofuscinosis.

@en

A novel c.1135_1138delCTGT mut ...... euronal ceroid lipofuscinosis.

@nl

P1476

A novel c.1135_1138delCTGT mut ...... neuronal ceroid lipofuscinosis

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P2093

David A Pearce

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P2860

Defective lysosomal arginine transport in juvenile Batten disease

CLN3, the protein associated with batten disease: structure, function and localization

The neuronal ceroid-lipofuscinoses.

Nonsense-mediated decay approaches the clinic.

Transcript and in silico analysis of CLN3 in juvenile neuronal ceroid lipofuscinosis and associated mouse models

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

Pharmaceutical therapies to recode nonsense mutations in inherited diseases.

The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.

New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses.

Characterization of Cln3p, the gene product responsible for juvenile neuronal ceroid lipofuscinosis, as a lysosomal integral membrane glycoprotein.

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1112-1116

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scholarly article

P356

10.1177/0883073813494812

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P433

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P478

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Arlene Drack

Jake N Miller

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2013-07-22T00:00:00Z

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23877479

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P921

juvenile neuronal ceroid lipofuscinosis

A novel c.1135_1138delCTGT mutation in CLN3 leads to juvenile neuronal ceroid lipofuscinosis.

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P2860

P2860

A novel c.1135_1138delCTGT mutation in CLN3 leads to juvenile neuronal ceroid lipofuscinosis.

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type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P921

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P921