Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations (Q46104175)

19 December 2017

title

Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations (English)

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19 December 2017

Niemann–Pick disease, type C

main subject

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3

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Patrizia Tarugi

4

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Graziella Uziel

12

object named as

Graziella Uziel

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19 December 2017

author name string

Tatiana Fancello

1

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Andrea Dardis

2

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Barbara Tappino

5

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Stefania Zampieri

6

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Elisa Pinotti

7

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Fabio Corsolini

8

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Simona Fecarotta

9

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Adele D'Amico

10

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Maja Di Rocco

11

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Sebastiano Calandra

13

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Bruno Bembi

14

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Mirella Filocamo

15

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publication date

28 February 2009

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published in

Neurogenetics

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volume

10

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issue

3

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page(s)

229-239

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https://scigraph.springernature.com/pub.10.1007/s10048-009-0175-3

exact match

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cites work

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A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C disease

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Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype

21 January 2018

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Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing

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Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?

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Integrating computation and visualization for biomolecular analysis: an example using python and AVS.

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Purified NPC1 protein. I. Binding of cholesterol and oxysterols to a 1278-amino acid membrane protein.

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Niemann-Pick disease type C.

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

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

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Purified NPC1 protein: II. Localization of sterol binding to a 240-amino acid soluble luminal loop

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NPC-db, a Niemann-Pick type C disease gene variation database

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NPC2, the protein deficient in Niemann-Pick C2 disease, consists of multiple glycoforms that bind a variety of sterols

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Improved splice site detection in Genie

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Improved methods for building protein models in electron density maps and the location of errors in these models

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

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The SREBP pathway: regulation of cholesterol metabolism by proteolysis of a membrane-bound transcription factor

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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

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

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12 December 2020

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

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Type-C Niemann-Pick disease: low density lipoprotein uptake is associated with premature cholesterol accumulation in the Golgi complex and excessive cholesterol storage in lysosomes

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Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2.

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Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study

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Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

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12 December 2020

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

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The natural history of Niemann-Pick disease type C in the UK.

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Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.

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

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The adult form of Niemann-Pick disease type C.

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Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families

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Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations

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Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2.

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Niemann-Pick type C disease and intracellular cholesterol trafficking

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Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C.

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

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Mechanism of cholesterol transfer from the Niemann-Pick type C2 protein to model membranes supports a role in lysosomal cholesterol transport.

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PANTHER: a library of protein families and subfamilies indexed by function

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Standardizing mutation nomenclature: why bother?

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LIGPLOT: a program to generate schematic diagrams of protein-ligand interactions

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12 December 2020

10.1007/S10048-009-0175-3

Identifiers

DOI

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19 December 2017

PubMed ID

19252935

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19 December 2017