Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts. (Q44195497)

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14 December 2019

title

Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts (English)

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14 December 2019

9

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14 December 2019

author name string

Patrizia Tarugi

1

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14 December 2019

Giorgia Ballarini

2

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14 December 2019

Bruno Bembi

3

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14 December 2019

Carla Battisti

4

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14 December 2019

Silvia Palmeri

5

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14 December 2019

Francesca Panzani

6

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14 December 2019

Enza Di Leo

7

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14 December 2019

Cristina Martini

8

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14 December 2019

Sebastiano Calandra

10

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publication date

1 November 2002

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Journal of Lipid Research

14 December 2019

published in

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14 December 2019

volume

43

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14 December 2019

issue

11

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page(s)

1908-1919

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Intracellular cholesterol trafficking: role of the NPC1 protein

14 December 2019

cites work

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The Niemann-Pick C lesion and its relationship to the intracellular distribution and utilization of LDL cholesterol

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Role of Niemann-Pick type C1 protein in intracellular trafficking of low density lipoprotein-derived cholesterol.

21 January 2018

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Sterol-modulated glycolipid sorting occurs in niemann-pick C1 late endosomes

21 January 2018

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

21 January 2018

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

21 January 2018

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Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype

21 January 2018

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Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts

21 January 2018

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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

21 January 2018

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

21 January 2018

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Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations

21 January 2018

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

21 January 2018

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Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group

21 January 2018

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The genomic organization and polymorphism analysis of the human Niemann-Pick C1 gene

21 January 2018

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A regulatory mechanism that detects premature nonsense codons in T-cell receptor transcripts in vivo is reversed by protein synthesis inhibitors in vitro

21 January 2018

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Killing the messenger: new insights into nonsense-mediated mRNA decay

21 January 2018

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Human Upf proteins target an mRNA for nonsense-mediated decay when bound downstream of a termination codon

21 January 2018

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Evidence for a pioneer round of mRNA translation: mRNAs subject to nonsense-mediated decay in mammalian cells are bound by CBP80 and CBP20

21 January 2018

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Communication of the position of exon-exon junctions to the mRNA surveillance machinery by the protein RNPS1

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21 January 2018

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Introns are cis effectors of the nonsense-codon-mediated reduction in nuclear mRNA abundance

21 January 2018

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RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

21 January 2018

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Listening to silence and understanding nonsense: exonic mutations that affect splicing

21 January 2018

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Fate of Endogenously Synthesized Cholesterol in Niemann-Pick Type C1 Cells

21 January 2018

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10.1194/JLR.M200203-JLR200

21 January 2018

Identifiers

DOI

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14 December 2019

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