Cited by 77Lysosomal Storage Disorders ResearchRetinal Development and DisordersRetinal Diseases and Treatments

Lack of Niemann-Pick type C1 induces age-related degeneration in the mouse retina

Claudepierre, Thomas, Paques, Michel, Simonutti, Manuel, Buard, Isabelle, Sahel, Jose, Maue, Robert A., Picaud, Serge, Pfrieger, Frank W.·2010·Molecular and Cellular Neuroscience

Abstract

Niemann-Pick type C (NPC) disease is an inherited lysosomal storage disease and caused by mutations in Npc1 or Npc2, which mediate cooperatively the egress of cholesterol from lysosomes. The disease entails progressive neurodegeneration, whose cause is poorly understood. Here, we report that Npc1 is distributed in distinct layers of the mouse retina and that its deficiency causes striking retinal degeneration in 2-month-old mice with signs of age-related maculopathies. This includes impaired visual function, accumulation of lipofuscin in the retinal pigment epithelium layer, degeneration of photoreceptor outer segments, disruption of synaptic layers and an increase in autophagy markers in the ganglion cell layer. Moreover, the lack of Npc1 results in the upregulation of proteins that mediate cellular cholesterol release in the retina. Our findings suggest that Npc1 is required for normal retinal function and that its absence may serve as model to study age-related degeneration of the retina.

Integrity signals

Registry

Crossref · 10.1016/j.mcn.2009.10.007

Cites

79 of 79 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

  • Rodent and fruit fly models of NPC disease have extensive cholesterol accumulation in the RPE and retinal neurons, increased lipofuscin, and progressive photoreceptor degeneration.

    “Rodent and fruit fly models of NPC disease have extensive cholesterol accumulation in the RPE and retinal neurons, increased lipofuscin, and progressive photoreceptor degeneration (Phillips et al., 2008; Claudepierre et al., 2010).”

    From The cell biology of the retinal pigment epithelium (2020) · cites this paper as Claudepierre et al., 2010

  • Diseases that affect lysosomes often negatively impact the RPE, including Danon disease and lysosomal storage disorders such as Niemann Pick Type C.

    “Unsurprisingly, diseases that affect lysosomes often negatively impact the RPE. These include Danon disease, caused by mutations in LAMP2, and lysosomal storage disorders such as Niemann Pick Type C, caused by mutations in the cholesterol transporters Niemann Pick C1 or C2 (NPC1 or NPC2) (Phillips et al., 2008; Claudepierre et al., 2010; Thompson et al., 2016).”

    From The cell biology of the retinal pigment epithelium (2020) · cites this paper as Claudepierre et al., 2010

Cites

Flagged first, then by citations

1 of the 80 references couldn’t be matched to a known paper.

Cited by

Sorted by citations

Authors
Claudepierre, T., Paques, M., Simonutti, M., Buard, I., Sahel, J., Maue, R. A., Picaud, S., & Pfrieger, F. W.
Affiliations
  • Centre National de la Recherche Scientifique (FR)
  • Institut de la Vision (FR)
  • Dartmouth College (US)
Corresponding author
Pfrieger, Frank W.
Venue
Molecular and Cellular Neuroscience
Publisher
Elsevier BV
Published
2010-01
Volume
43
Issue
1
Pages
164-176
ISSN
1044-7431 (ISSN-L)
OpenAlex
W1998015808
Cited by
77
References
80
Citations by year
2026: 1 · 2025: 2 · 2024: 5 · 2023: 4 · 2022: 3 · 2021: 3 · 2020: 11 · 2019: 3 · 2018: 5 · 2017: 5 · 2016: 7 · 2015: 6 · 2014: 6 · 2013: 4 · 2012: 3
FWCI
2.65
Type
journal article
Language
en
Open access
closed
Locations
  • Molecular and Cellular Neuroscience (publishedVersion)
  • PubMed (publishedVersion)
  • HAL (submittedVersion)
Funders
Dartmouth College
Topics
  • Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
  • Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
Keywords
Niemann-Pick disease type C, NPC1, NPC2, retinal degeneration, age-related maculopathy, lipofuscin accumulation, retinal pigment epithelium, photoreceptor outer segments, retinal ganglion cells, autophagy, visual function, lysosomal storage disease, mouse model
MeSH terms
Niemann-Pick C1 Protein, Animals, Autophagy, Cholesterol, Electroretinography, Macular Degeneration, Mice, Inbred BALB C, Nerve Degeneration, Phagosomes, Proteins, Retina, Mice, Knockout, Intracellular Signaling Peptides and Proteins, Mice, Niemann-Pick Disease, Type C

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review