A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient's skin (Q36828054)

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24 February 2020

title

A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient's skin (English)

1 reference

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24 February 2020

4

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24 February 2020

Stefania Zampieri

6

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24 February 2020

1

Natascha Bergamin

1 reference

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24 February 2020

author name string

Andrea Dardis

2

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24 February 2020

Antonio Beltrami

3

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24 February 2020

Silvia Rigo

5

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24 February 2020

Rossana Domenis

7

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24 February 2020

Bruno Bembi

8

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24 February 2020

Carlo Alberto Beltrami

9

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24 February 2020

publication date

21 February 2013

1 reference

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Orphanet Journal of Rare Diseases

24 February 2020

published in

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24 February 2020

volume

8

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24 February 2020

page(s)

34

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Generation of a human neuronal stable cell model for niemann-pick C disease by RNA interference

24 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3648447

Pluripotent and multipotent stem cells in adult tissues

29 September 2017

1 reference

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3648447

Endosomal/lysosomal processing of gangliosides affects neuronal cholesterol sequestration in Niemann-Pick disease type C.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3648447

Multipotent skin-derived precursors: from biology to clinical translation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3648447

Pluripotency rush! Molecular cues for pluripotency, genetic reprogramming of adult stem cells, and widely multipotent adult cells.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3648447

In vitro clonal analysis of murine pluripotent stem cells isolated from skeletal muscle and adipose stromal cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3648447

Lipid dynamics in neurons

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3648447

Comparative analysis of mesenchymal stem cells from bone marrow, umbilical cord blood, or adipose tissue

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3648447

Consequences of NPC1 and NPC2 loss of function in mammalian neurons

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3648447

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3648447

Niemann-Pick disease type C.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3648447

Selective neurodegeneration, without neurofibrillary tangles, in a mouse model of Niemann-Pick C disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3648447

Neurons in Niemann-Pick disease type C accumulate gangliosides as well as unesterified cholesterol and undergo dendritic and axonal alterations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3648447

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3648447

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3648447

Lipid changes in Niemann-Pick disease type C brain: personal experience and review of the literature

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3648447

Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3648447

Linkage of Niemann-Pick disease type C to human chromosome 18

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3648447

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3648447

Disruption and therapeutic rescue of autophagy in a human neuronal model of Niemann Pick type C1

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3648447

Niemann-Pick disease type C. Study on the nature of the cerebral storage process

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3648447

Age-dependent depletion of human skin-derived progenitor cells.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3648447

Multipotent progenitor cells are present in human peripheral blood

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3648447

Neuronal differentiation potential of human adipose-derived mesenchymal stem cells.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3648447

Differentiation of human adipose stromal cells into hepatic lineage in vitro and in vivo

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3648447

A dermal niche for multipotent adult skin-derived precursor cells.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3648447

Critical role for glycosphingolipids in Niemann-Pick disease type C.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3648447

GABAergic neuroaxonal dystrophy and other cytopathological alterations in feline Niemann-Pick disease type C

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3648447

Neurofibrillary tangles in Niemann-Pick disease type C

5 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23433359

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23433359

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Multipotent cells can be generated in vitro from several adult human organs (heart, liver, and bone marrow)

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23433359

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1750-1172-8-34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23433359 AND SRC:MED&resulttype=core&format=json

Dimensions Publication ID

24 February 2020

0 references

1 reference

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24 February 2020

PubMed publication ID

23433359

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23433359 AND SRC:MED&resulttype=core&format=json