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Cited by 21Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and MyoclonusCellular transport and secretion

Synaptic Function and Dysfunction in Lysosomal Storage Diseases

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Rebiai, Rima, Givogri, Maria I., Gowrishankar, Swetha, Cologna, Stephania M., Alford, Simon T., Bongarzone, Ernesto R.·2021·Frontiers in Cellular Neuroscience
DOI 10.3389/fncel.2021.619777PMC PMC7978225
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Abstract

Lysosomal storage diseases (LSDs) with neurological involvement are inherited genetic diseases of the metabolism characterized by lysosomal dysfunction and the accumulation of undegraded substrates altering glial and neuronal function. Often, patients with neurological manifestations present with damage to the gray and white matter and irreversible neuronal decline. The use of animal models of LSDs has greatly facilitated studying and identifying potential mechanisms of neuronal dysfunction, including alterations in availability and function of synaptic proteins, modifications of membrane structure, deficits in docking, exocytosis, recycling of synaptic vesicles, and inflammation-mediated remodeling of synapses. Although some extrapolations from findings in adult-onset conditions such as Alzheimer’s disease or Parkinson’s disease have been reported, the pathogenetic mechanisms underpinning cognitive deficits in LSDs are still largely unclear. Without being fully inclusive, the goal of this mini-review is to present a discussion on possible mechanisms leading to synaptic dysfunction in LSDs.

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  • Individual granulins F and A promote lysosomal function and rescue disease phenotypes in GRN knockout mice.

    “Alternatively, individual, specific granulins (F and A) have been shown to promote lysosomal function and rescue disease phenotypes in GRN knockout mice135”

    From The lysosome and proteostatic stress at the intersection of pediatric neurological disorders and adult neurodegenerative diseases (2025) · cites this paper as [135]

    The retrieved passages from the Introduction and References discuss other lysosomal storage disorders and mouse models, but do not address granulins F or A. Searches for granulin, progranulin, and GRN knockout mice found no passage reporting improved lysosomal function or rescue of disease phenotypes in GRN knockout mice. (LLM, conf=0.75)

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Cited by

Sorted by citations

Authors
Rebiai, R., Givogri, M. I., Gowrishankar, S., Cologna, S. M., Alford, S. T., & Bongarzone, E. R.
Affiliations
University of Illinois Chicago (US)
Corresponding author
  • Givogri, Maria I.
  • Gowrishankar, Swetha
  • Cologna, Stephania M.
  • Alford, Simon T.
  • Bongarzone, Ernesto R.
ORCID
Venue
Frontiers in Cellular Neuroscience
Publisher
Frontiers Media SA
Published
2021-03-04
Volume
15
Pages
619777-619777
ISSN
1662-5102 (ISSN-L)
DOI
10.3389/fncel.2021.619777
PMC
PMC7978225
OpenAlex
W3135594502
Cited by
21
References
8
Citations by year
2026: 3 · 2025: 5 · 2024: 6 · 2023: 2 · 2022: 5
FWCI
2.04
Type
journal article
Language
en
Open access
Licence
Locations
  • Frontiers in Cellular Neuroscience (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Funders
  • Legacy of Angels Foundation
  • Strong
  • National Institutes of Health
  • University of Illinois at Urbana-Champaign
  • University of Illinois at Chicago
  • National Institute of Neurological Disorders and Stroke (R01NS114413, R01NS065808, R01NS111749)
Topics
  • Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
  • Health Sciences › Medicine › Rheumatology › Glycogen Storage Diseases and Myoclonus
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Cellular transport and secretion
Keywords
lysosomal storage disease, synaptic dysfunction, lysosomal dysfunction, neuronal dysfunction, synaptic proteins, synaptic vesicle recycling, exocytosis, neuroinflammation, cognitive impairment, animal models, glial dysfunction

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