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Cited by 32Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and MyoclonusBiomedical Research and Pathophysiology

A lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis

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Basak, I., Wicky, H. E., McDonald, K. O., Xu, J. B., Palmer, J. E., Best, H. L., Lefrancois, S., Lee, S. Y. +2 more·2021·Cellular and Molecular Life Sciences
DOI 10.1007/s00018-021-03813-xPMC PMC8195759
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Abstract

Neuronal Ceroid Lipofuscinosis (NCL), also known as Batten disease, is an incurable childhood brain disease. The thirteen forms of NCL are caused by mutations in thirteen CLN genes. Mutations in one CLN gene, CLN5, cause variant late-infantile NCL, with an age of onset between 4 and 7 years. The CLN5 protein is ubiquitously expressed in the majority of tissues studied and in the brain, CLN5 shows both neuronal and glial cell expression. Mutations in CLN5 are associated with the accumulation of autofluorescent storage material in lysosomes, the recycling units of the cell, in the brain and peripheral tissues. CLN5 resides in the lysosome and its function is still elusive. Initial studies suggested CLN5 was a transmembrane protein, which was later revealed to be processed into a soluble form. Multiple glycosylation sites have been reported, which may dictate its localisation and function. CLN5 interacts with several CLN proteins, and other lysosomal proteins, making it an important candidate to understand lysosomal biology. The existing knowledge on CLN5 biology stems from studies using several model organisms, including mice, sheep, cattle, dogs, social amoeba and cell cultures. Each model organism has its advantages and limitations, making it crucial to adopt a combinatorial approach, using both human cells and model organisms, to understand CLN5 pathologies and design drug therapies. In this comprehensive review, we have summarised and critiqued existing literature on CLN5 and have discussed the missing pieces of the puzzle that need to be addressed to develop an efficient therapy for CLN5 Batten disease.

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Cited by

Sorted by citations

Authors
Basak, I., Wicky, H. E., McDonald, K. O., Xu, J. B., Palmer, J. E., Best, H. L., Lefrancois, S., Lee, S. Y., Schoderboeck, L., & Hughes, S. M.
Affiliations
  • University of Otago (NZ)
  • Cardiff University (GB)
  • University of Kansas Medical Center (US)
Corresponding author
Hughes, S. M.
ORCID
Venue
Cellular and Molecular Life Sciences
Publisher
Springer Science and Business Media LLC
Published
2021-04-01
Volume
78
Issue
10
Pages
4735-4763
ISSN
  • 1420-682X (ISSN-L)
  • 1420-9071
DOI
10.1007/s00018-021-03813-x
PMC
PMC8195759
OpenAlex
W3142219474
Cited by
32
References
1
Citations by year
2026: 5 · 2025: 6 · 2024: 5 · 2023: 7 · 2022: 5 · 2021: 4
FWCI
0.69
Type
journal article
Language
en
Update notices
correction (2024-01-18)
Open access
Licence
Locations
  • Cellular and Molecular Life Sciences (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • ORCA Online Research @Cardiff (Cardiff University) (acceptedVersion)
  • EspaceINRS (National Institute for Scientific Research (Canada)) (submittedVersion)
  • HAL (submittedVersion)
Funders
  • Neurological Foundation of New Zealand
  • Health Research Council of New Zealand
  • Cure Kids
  • Biotechnology and Biological Sciences Research Council
  • EU Joint Programme – Neurodegenerative Disease Research
  • Canadian Institutes of Health Research
  • Canada Foundation for Innovation
Topics
  • Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
  • Health Sciences › Medicine › Rheumatology › Glycogen Storage Diseases and Myoclonus
  • Health Sciences › Medicine › Pathology and Forensic Medicine › Biomedical Research and Pathophysiology
Keywords
CLN5, neuronal ceroid lipofuscinosis, Batten disease, lysosomes, lysosomal storage disease, late infantile NCL
MeSH terms
Animals, Humans, Lysosomes, Mutation, Neuronal Ceroid-Lipofuscinoses, Lysosomal Membrane Proteins

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