Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice (Q24555093)

neuronal ceroid lipofuscinosis

GOA release 2020-03-11

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P Gupta

1

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A A Soyombo

2

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A Atashband

3

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K E Wisniewski

4

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J M Shelton

5

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J A Richardson

6

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R E Hammer

7

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S L Hofmann

Proceedings of the National Academy of Sciences of the United States of America

8

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language of work or name

English

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publication date

20 November 2001

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published in

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volume

98

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page(s)

13566-71

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issue

24

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cites work

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Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase

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Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: First adult-onset patients of a childhood disease

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