Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations (Q40627788)

22 September 2017

title

Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations (English)

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Infantile neuronal ceroid lipofuscinosis

22 September 2017

main subject

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Jansky–Bielschowsky disease

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4

Kerstin Meyer

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22 September 2017

Robert Steinfeld

1

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22 September 2017

Peter Heim

2

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22 September 2017

Henning von Gregory

3

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22 September 2017

Kurt Ullrich

5

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22 September 2017

Hans H Goebel

6

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22 September 2017

Alfried Kohlschütter

7

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22 September 2017

publication date

1 November 2002

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American Journal of Medical Genetics Part A

22 September 2017

published in

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22 September 2017

volume

112

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22 September 2017

issue

4

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22 September 2017

page(s)

347-354

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Characterization of endopeptidase activity of tripeptidyl peptidase-I/CLN2 protein which is deficient in classical late infantile neuronal ceroid lipofuscinosis

22 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10660

Tripeptidyl peptidase I, the late infantile neuronal ceroid lipofuscinosis gene product, initiates the lysosomal degradation of subunit c of ATP synthase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10660

Late infantile neuronal ceroid lipofuscinosis is due to splicing mutations in the CLN2 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10660

The human CLN2 protein/tripeptidyl-peptidase I is a serine protease that autoactivates at acidic pH

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10660

Structural organization and sequence of CLN2, the defective gene in classical late infantile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10660

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10660

Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10660

Purification and characterisation of a tripeptidyl aminopeptidase I from rat spleen

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10660

21 January 2018

Identifiers

DOI

10.1002/AJMG.10660

1 reference

22 September 2017

1 reference