Cited by 75Lysosomal Storage Disorders ResearchAutophagy in Disease and TherapyParkinson's Disease Mechanisms and Treatments

Dysregulation of the autophagic-lysosomal pathway in Gaucher and Parkinson's disease

Open access
Pitcairn, Caleb, Wani, Willayat Yousuf, Mazzulli, Joseph R.·2019·Neurobiology of Disease

Abstract

The finding that mutations in the Gaucher's Disease (GD) gene GBA1 are a strong risk factor for Parkinson's Disease (PD) has allowed for unique insights into pathophysiology centered on disruption of the autophagic-lysosomal pathway. Protein aggregations in the form of Lewy bodies and the effects of canonical PD mutations that converge on the lysosomal degradation system suggest that neurodegeneration in PD is mediated by dysregulation of protein homeostasis. The well-characterized clinical and pathological relationship between PD and the lysosomal storage disorder GD emphasizes the importance of dysregulated protein metabolism in neurodegeneration, and one intriguing piece of this relationship is a shared phenotype of autophagic-lysosomal dysfunction in both diseases. Translational application of these findings may be accelerated by the use of midbrain dopamine neuronal models derived from induced pluripotent stem cells (iPSCs) that recapitulate several pathological features of GD and PD. In this review, we discuss evidence linking autophagic dysfunction to the pathophysiology of GD and GBA1-linked parkinsonism and focus more specifically on studies performed recently in iPSC-derived neurons.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Integrity signals

Registry

Crossref · 10.1016/j.nbd.2018.03.008

Cites

136 of 136 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

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?

  • Autophagic/lysosomal dysfunction has a key role in the pathogenesis of PD, with many PD mutations associated with defects in these pathways.

    “Autophagic/lysosomal dysfunction are also thought to have a key role in the pathogenesis of the disease, with many PD mutations being associated with defects in these pathways [262,263].”

    From Ageing, Cellular Senescence and Neurodegenerative Disease (2018) · cites this paper as [262]

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Cites

Flagged first, then by citations

Cited by

Sorted by citations

Authors
Pitcairn, C., Wani, W. Y., & Mazzulli, J. R.
Affiliations
Northwestern University (US)
Corresponding author
Mazzulli, Joseph R.
Venue
Neurobiology of Disease
Publisher
Elsevier BV
Published
2019-02
Volume
122
Pages
72-82
ISSN
0969-9961 (ISSN-L)
OpenAlex
W2790727932
Cited by
75
References
136
Citations by year
2026: 7 · 2025: 8 · 2024: 11 · 2023: 3 · 2022: 5 · 2021: 13 · 2020: 10 · 2019: 12 · 2018: 6
FWCI
1.35
Type
journal article
Language
en
Open access
Locations
  • Neurobiology of Disease (publishedVersion)
  • PubMed (publishedVersion)
  • PubMed Central (acceptedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Funders
National Institute of Neurological Disorders and Stroke (R01NS092823)
Topics
  • Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
  • Health Sciences › Medicine › Epidemiology › Autophagy in Disease and Therapy
  • Health Sciences › Medicine › Neurology › Parkinson's Disease Mechanisms and Treatments
Keywords
Gaucher disease, Parkinson's disease, GBA mutations, Lewy bodies, proteostasis, neurodegeneration, lysosomal storage disease, midbrain dopaminergic neurons, autophagy dysfunction
MeSH terms
Animals, Autophagy, Gaucher Disease, Humans, Lysosomes, Parkinson Disease

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