A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations. (Q30458199)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22048958%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

title

A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations (English)

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15 January 2020

2

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15 January 2020

Maximillian A Rogers

7

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15 January 2020

Leslie Henderson

15

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15 January 2020

author name string

Robert A Maue

1

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15 January 2020

Bing Wang

3

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15 January 2020

Christine M Wooley

4

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15 January 2020

Kevin L Seburn

5

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15 January 2020

Marie T Vanier

6

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15 January 2020

Catherine C Chang

8

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15 January 2020

Ta-Yuan Chang

9

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15 January 2020

Brent T Harris

10

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15 January 2020

David J Graber

11

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15 January 2020

Carlos A A Penatti

12

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15 January 2020

Donna M Porter

13

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15 January 2020

Benjamin S Szwergold

14

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15 January 2020

John W Totenhagen

16

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15 January 2020

Theodore P Trouard

17

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15 January 2020

Ivan A Borbon

18

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15 January 2020

Robert P Erickson

19

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15 January 2020

publication date

2 November 2011

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15 January 2020

published in

Human Molecular Genetics

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15 January 2020

volume

21

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15 January 2020

issue

4

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15 January 2020

page(s)

730-750

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describes a project that uses

15 January 2020

ImageJ

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11 June 2022

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inferred from PubMed Central ID database lookup

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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.

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20 June 2018

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20 June 2018

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20 June 2018

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A model for niemann-pick type C disease in the nematode Caenorhabditis elegans

20 June 2018

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A Drosophila model of the Niemann-Pick type C lysosome storage disease: dnpc1a is required for molting and sterol homeostasis

21 January 2018

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Sphingomyelinosis, a new mutation in the mouse: a model of Niemann-Pick disease in humans.

21 January 2018

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Molecular, anatomical, and biochemical events associated with neurodegeneration in mice with Niemann-Pick type C disease

21 January 2018

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Postnatal development of inflammation in a murine model of Niemann-Pick type C disease: immunohistochemical observations of microglia and astroglia

21 January 2018

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Drastically abnormal gluco- and galactosylceramide composition does not affect ganglioside metabolism in the brain of mice deficient in galactosylceramide synthase.

21 January 2018

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Cognitive deficit and development of motor impairment in a mouse model of Niemann-Pick type C disease

21 January 2018

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Acoustic startle and prepulse inhibition in 40 inbred strains of mice

21 January 2018

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Reversal of startle gating deficits in transgenic mice overexpressing corticotropin-releasing factor by antipsychotic drugs

21 January 2018

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Chronic psychosocial stress in the absence of social support induces pathological pre-pulse inhibition in mice.

21 January 2018

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Cholesterol is sequestered in the brains of mice with Niemann-Pick type C disease but turnover is increased.

21 January 2018

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Increased auditory startle response and reduced prepulse inhibition of startle in transgenic mice expressing a double mutant form of amyloid precursor protein.

21 January 2018

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Brainstem neuropathology in a mouse model of Niemann-Pick disease type C.

21 January 2018

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A single point mutation in the LN domain of LAMA2 causes muscular dystrophy and peripheral amyelination

21 January 2018

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Targeted disruption of the mouse sphingolipid activator protein gene: a complex phenotype, including severe leukodystrophy and wide-spread storage of multiple sphingolipids.

21 January 2018

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Embryonic Striatal Neurons from Niemann-Pick Type C Mice Exhibit Defects in Cholesterol Metabolism and Neurotrophin Responsiveness

21 January 2018

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Niemann-Pick type C1 I1061T mutant encodes a functional protein that is selected for endoplasmic reticulum-associated degradation due to protein misfolding

21 January 2018

1 reference

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A novel cholesterol stain reveals early neuronal cholesterol accumulation in the Niemann-Pick type C1 mouse brain

26 November 2018

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Fear-potentiated startle in two strains of inbred mice.

26 November 2018

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Type C Niemann-Pick disease in a boxer dog.

26 November 2018

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Cerebellar degeneration in the Niemann-Pick type C mouse.

26 November 2018

1 reference

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Prepulse inhibition of the startle response in mice: relationship to hearing loss and auditory system plasticity.

26 November 2018

1 reference

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A genetic storage disorder in BALB/C mice with a metabolic block in esterification of exogenous cholesterol

26 November 2018

1 reference

12 December 2020

The cholesterol storage disorder of the mutant BALB/c mouse. A primary genetic lesion closely linked to defective esterification of exogenously derived cholesterol and its relationship to human type C Niemann-Pick disease

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12 December 2020

A mouse model for Niemann-Pick disease. Influence of genetic background on disease expression in spm/spm mice

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12 December 2020

Cerebellar involvement in murine sphingomyelinosis: a new model of Niemann-Pick disease

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12 December 2020

Interactions of Npc1 and amyloid accumulation/deposition in the APP/PS1 mouse model of Alzheimer's

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12 December 2020

Feline sphingolipidosis resembling Niemann-Pick disease type C

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12 December 2020

A modifier of Niemann Pick C 1 maps to mouse chromosome 19

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12 December 2020

Neurodegeneration in the Niemann-Pick C mouse: glial involvement

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12 December 2020

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Monoclonal antibodies specific for glial fibrillary acidic (GFA) protein and for each of the neurofilament triplet polypeptides

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Identifiers

DOI

10.1093/HMG/DDR505

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22048958%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22048958%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

1 reference