(Q38334342)

2 September 2017

title

Niemann-Pick type C disease: importance of N-glycosylation sites for function and cellular location of the NPC2 protein (English)

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2 September 2017

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Karim Chikh

1

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2 September 2017

Sébastien Vey

2

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2 September 2017

Cédric Simonot

3

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2 September 2017

Marie T Vanier

4

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2 September 2017

Gilles Millat

5

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2 September 2017

publication date

1 November 2004

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Molecular Genetics and Metabolism

2 September 2017

published in

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2 September 2017

volume

83

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2 September 2017

issue

3

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2 September 2017

page(s)

220-230

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Recent advances in elucidating Niemann-Pick C disease

2 September 2017

cites work

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Complementation studies in Niemann-Pick disease type C indicate the existence of a second group

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Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis

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Identification of HE1 as the second gene of Niemann-Pick C disease

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Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport

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Niemann-Pick C1 is a late endosome-resident protein that transiently associates with lysosomes and the trans-Golgi network

7 January 2021

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The Niemann-Pick C1 protein resides in a vesicular compartment linked to retrograde transport of multiple lysosomal cargo

7 January 2021

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7 January 2021

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Mutations in the leucine zipper motif and sterol-sensing domain inactivate the Niemann-Pick C1 glycoprotein

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Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain

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Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.

7 January 2021

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Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop

7 January 2021

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A porcine homolog of the major secretory protein of human epididymis, HE1, specifically binds cholesterol

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Structure of a cholesterol-binding protein deficient in Niemann-Pick type C2 disease

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The integrity of a cholesterol-binding pocket in Niemann-Pick C2 protein is necessary to control lysosome cholesterol levels.

7 January 2021

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7 January 2021

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Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.

7 January 2021

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Differential trafficking of the Niemann-Pick C1 and 2 proteins highlights distinct roles in late endocytic lipid trafficking.

7 January 2021

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7 January 2021

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The amino acid at the X position of an Asn-X-Ser sequon is an important determinant of N-linked core-glycosylation efficiency.

7 January 2021

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The amino acid following an asn-X-Ser/Thr sequon is an important determinant of N-linked core glycosylation efficiency

7 January 2021

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Primary structure of EPV20, a secretory glycoprotein containing a previously uncharacterized type of domain

7 January 2021

1 reference

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Sequence differences between glycosylated and non-glycosylated Asn-X-Thr/Ser acceptor sites: implications for protein engineering

7 January 2021

1 reference

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Human lysosomal alpha-glucosidase: functional characterization of the glycosylation sites

7 January 2021

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7 January 2021

Identifiers

DOI

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2 September 2017

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