Wyniki wyszukiwania

1

Current controversies in Niemann-Pick C1 disease: steroids or gangliosides; neurons or neurons and glia

100%

Erickson R. P.

Journal of Applied Genetics

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2013

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tom 54

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nr 2

There has been a recent explosion in research on Niemann–Pick type C disease. Much of the work has used mouse models or cells in culture to elucidate the pathophysiological mechanisms resulting in the phenotype of the disease. This work has generated several contrasting views on the mechanism, which are labeled ‘controversies’ here. In this review, two of these controversies are explored. The first concerns which stored materials are causative in the disease: cholesterol, gangliosides and sphingolipids, or something else? The second concerns which cells in the body require Npc1 in order to function properly: somatic cells, neurons only, or neurons and glia? For the first controversy, a clear answer has emerged. More research will be needed in order to definitively solve the second controversy.

2

Do GWAS and studies of heterozygotes for NPC1 and/or NPC2 explain why NPC disease cases are so rare?

100%

Erickson R. P.

Journal of Applied Genetics

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2018

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tom 59

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nr 4

3

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Forkhead genes and human disease

100%

Erickson R. P.

Journal of Applied Genetics

|

2001

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tom 42

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nr 2

4

Co-treatment with probucol does not improve lung pathology in hydroxypropyl-beta-cyclodextrin-treated Npc1−/− mice

63%

Erickson R. P., Borbon I. A.

Journal of Applied Genetics

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2019

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tom 60

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nr 2

5

Uniparental disomy and the phenotype of mosaic trisomy 20: a new case and review of the literature

63%

Powis Z., Erickson R. P.

Journal of Applied Genetics

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2009

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tom 50

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nr 3

293-296

Mosaic trisomy 20 is one of the most commonly reported chromosome abnormalities detected prenatally, but is rare postnatally. Many studies have hypothesized that uniparental disomy (UPD) may play a role in phenotype variability, but this has not been widely studied. Here we report an additional case of mosaic trisomy 20 with altered pigmentation, in which UPD was not found, and we review the literature.

6

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

63%

Borbon I. A., Erickson R. P.

Journal of Applied Genetics

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2011

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tom 52

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nr 2

Although Niemann-Pick C1 disease has frequently been called “juvenile Alzheimer’s”, the effects of introducing Npc1 mutations into a mouse model of Alzheimer’s have not previously been performed. We have crossed Npc1 +/− mice with APP/PS1 “Alzheimer’s” mice and studied Aβ42 accumulation and amyloid plaque formation. Mice heterozygous for Npc1 and positive for the APP and PS1 transgenes accumulated Aβ42 more rapidly than the APP/PS1 controls and this correlated, as expected, with the area of amyloid plaques. We conclude that the alterations of intracellular cholesterol present in Npc1 +/− mice can influence the progress of Alzheimer’s disease in the APP/PS1 mouse model.

7

The low frequency of recessive disease: insights from ENU mutagenesis, severity of disease phenotype, GWAS associations, and demography: an analytical review

63%

Erickson R. P., Mitchison N. A.

Journal of Applied Genetics

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2014

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tom 55

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nr 3

8

A pilot study of direct delivery of hydroxypropyl-beta-cyclodextrin to the lung by the nasal route in a mouse model of Niemann-Pick C1 disease: motor performance is unaltered and lung disease is worsened

51%

Erickson R. P., Deutsch G., Patil R.

Journal of Applied Genetics

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2018

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tom 59

|

nr 2

9

Expression of Npc1 in glial cells corrects sterility in Npc1 mice

51%

Donohue C., Marion S., Erickson R. P.

Journal of Applied Genetics

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2009

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tom 50

|

nr 4

385-390

Niemann-Pick type C1 (NPC) disease is an autosomal recessive neurodegenerative disorder. One feature of the mouse model of NPC1 is it's infertility. We have made transgenic mice which express the Npcl protein exclusively in fibrillary astrocytes, using the glial fibrillary acidic protein (GFAP) promoter. This selective expression of Npcl corrects sterility in GFAP-Npc1E, Npcl-/- mice. Counts of acidophils in the pituitary of GFAP-Npc1E,Npc1-/-- mice, as compared to Npc1-/- mice, and measurements of dopamine D2 receptor (DRD2) mRNA in the pituitary, suggest mechanisms for fertility enhancement. We conclude that the correction of sterility in GFAP-Npc1E, Npc1-/- mice is a result of restoring hypothalamic control of the pituitary.

10

Relative efficacy of nicotinamide treatment of a mouse model of infantile Niemann-Pick C1 disease

51%

Marshall C. A., Borbon I. A., Erickson R. P.

Journal of Applied Genetics

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2017

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tom 58

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nr 1

11

The role of decreased levels of Niemann-Pick C1 intracellular cholesterol transport on obesity is reversed in the C57BL/6J, metabolic syndrome mouse strain: a metabolic or an inflammatory effect?

51%

Borbon I., Campbell E., Ke W., Erickson R. P.

Journal of Applied Genetics

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2012

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tom 53

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nr 3

We have previously shown that decreased dosage of Niemann-Pick C1 (Npc1) protein, caused by heterozygosity at the null mutation, Npc1 nih , locus, causes altered lipid metabolism in mice. When studied on the “lean” BALB/cJ genetic background, the decreased protein was associated with no weight changes in either males or females when on a regular diet but increased weights and adiposity when on a high fat diet Jelinek et al. (Obesity 18: 1457-1459, 2010, Gene 491:128-134, 2012). When the heterozygotes were studied on a mixed C57BL/6J, BALB/cJ background, increased weight and adiposity were also found on a regular diet (sexes pooled Jelinek et al. [Hum Molec Genet 20:312-321, 2011]). We find somewhat different results when the hypomorphic Npc1 mutation, Npc1 nmf164 , is studied on a pure C57BL/6J, “metabolic syndrome” genetic background with male, but not female, heterozygotes having lower weights on the regular diet. The result does not seem to be due to the difference in the two mutations as heterozygous Npc1 nmf164 mice on the BALB/cJ background acted like the null mutant heterozygotes. Studies of glucose tolerance, liver enzymes, liver triglycerides and fat deposition, and adipose tissue caveolin 1 levels did not disclose reasons for these differing results.

12

Neural stem cell implantation extends life in Niemann-Pick C1 mice

45%

Ahmad I., Hunter R. E., Flax J. D., Snyder E. Y., Erickson R. P.

Journal of Applied Genetics

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2007

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tom 48

|

nr 3

269-272

In order to evaluate the phenotypic effects of implanted neural stem cells (NSCs) in the mouse model of Niemann-Pick C (NPC) disease, we injected a well-characterized clone of murine NSCs into the cerebella of neonatal Npc1-/- and control mice. The implanted cells survived and were abundant in some regions of the cerebellum. Life span was lengthened in NPC mice with the implanted NSCs. However, the rate of weight gain and subsequent weight loss, resulting from neurodegeneration, was not significantly different from un-injected controls. Ataxia was measured by Rota-Rod performance. The overall rate of decline in time on the Rota-Rod was not significantly slowed down. Thus, in this small group of NPC mice, a single administration in the neonatal period of the NSCs (which were not engineered to over-express the missing gene and not directed into the parenchyma) was only partially therapeutic.

13

DNA constructs designed to produce short hairpin, interfering RNAs in transgenic mice sometimes show early lethality and an interferon response

45%

Cao W., Hunter R., Strnatka D., McQueen C. A., Erickson R. P.

Journal of Applied Genetics

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2005

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tom 46

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nr 2

Arylamine N-acetyltransferase (NAT) genes were targeted for inhibition using short hairpin RNA (shRNA) using two different RNA polymerase III promoters. Constructs were developed for NAT1 and NAT2, the endogenous mouse genes, and for human NAT1. There were fetal and neonatal deaths with these constructs, perhaps due in part to an interferon response as reflected in increases in oligoadenylate synthetase I mRNA levels. Seven out of 8 founders with the U6 promoter generated offspring but only 2 gave positive offspring. Out of 15 founders for H1 promoted constructs, only 4 had positive offspring. When transgenic lines were successfully established, the expression of the targeted genes was variable between animals and was not generally inhibitory.

14

Decreased neural stem cell proliferation and olfaction in mouse models of Niemann–Pick C1 disease and the response to hydroxypropyl-β-cyclodextrin

39%

Dragotto J., Palladino G., Canterini S., Caporali P., Patil R., Fiorenza M. T., Erickson R. P.

Journal of Applied Genetics

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2019

|

tom 60

|

nr 3-4

15

Tamoxifen and vitamin E treatments delay symptoms in the mouse model of Niemann-Pick C

33%

Bascunan-Castillo E. C., Erickson R. P., Howison C. M., Hunter R. J., Heidenreich R. H., Hicks C., Trouard T. P., Gillies R. J.

Journal of Applied Genetics

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2004

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tom 45

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nr 4

Ograniczanie wyników

Current controversies in Niemann-Pick C1 disease: steroids or gangliosides; neurons or neurons and glia

Do GWAS and studies of heterozygotes for NPC1 and/or NPC2 explain why NPC disease cases are so rare?

Forkhead genes and human disease

Co-treatment with probucol does not improve lung pathology in hydroxypropyl-beta-cyclodextrin-treated Npc1−/− mice

Uniparental disomy and the phenotype of mosaic trisomy 20: a new case and review of the literature

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

The low frequency of recessive disease: insights from ENU mutagenesis, severity of disease phenotype, GWAS associations, and demography: an analytical review

A pilot study of direct delivery of hydroxypropyl-beta-cyclodextrin to the lung by the nasal route in a mouse model of Niemann-Pick C1 disease: motor performance is unaltered and lung disease is worsened

Expression of Npc1 in glial cells corrects sterility in Npc1 mice

Relative efficacy of nicotinamide treatment of a mouse model of infantile Niemann-Pick C1 disease

The role of decreased levels of Niemann-Pick C1 intracellular cholesterol transport on obesity is reversed in the C57BL/6J, metabolic syndrome mouse strain: a metabolic or an inflammatory effect?

Neural stem cell implantation extends life in Niemann-Pick C1 mice

DNA constructs designed to produce short hairpin, interfering RNAs in transgenic mice sometimes show early lethality and an interferon response

Decreased neural stem cell proliferation and olfaction in mouse models of Niemann–Pick C1 disease and the response to hydroxypropyl-β-cyclodextrin

Tamoxifen and vitamin E treatments delay symptoms in the mouse model of Niemann-Pick C