ArticleBioscience reports2009
Cln6 mutants associated with neuronal ceroid lipofuscinosis are degraded in a proteasome-dependent manner.
Article in Bioscience reports, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 18 citations in OpenAlex.
- A Flupirtine Benzyl Carbamate Improves Neurocognitive Deficits and Molecular Pathology in theCells · 2026Article
- CLN6-related continuum phenotype caused by aberrant splicing.Epilepsia open · 2025Article
- Peptide barcodes in dogs affected by mitral valve disease with and without pulmonary hypertension using MALDI-TOF MS and LC-MS/MS.PloS one · 2021Article
- Gene Therapy Corrects Brain and Behavioral Pathologies in CLN6-Batten Disease.Molecular therapy : the journal of the American Society of Gene Therapy · 2019Article
- NCLs and ER: A stressful relationship.Biochimica et biophysica acta. Molecular basis of disease · 2017Review
- A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.American journal of human genetics · 2012Article
- Haploid insufficiency of suppressor enhancer Lin12 1-like (SEL1L) protein predisposes mice to high fat diet-induced hyperglycemia.The Journal of biological chemistry · 2011Article
- TRAM1 is involved in disposal of ER membrane degradation substrates.Experimental cell research · 2010Article
- Deficiency of suppressor enhancer Lin12 1 like (SEL1L) in mice leads to systemic endoplasmic reticulum stress and embryonic lethality.The Journal of biological chemistry · 2010Article
- SEL1L deficiency impairs growth and differentiation of pancreatic epithelial cells.BMC developmental biology · 2010Article
- Knockdown of Derlin-1 Represses Cellular Oncogenic Activities in Uveal Melanoma, Enhances its Chemosensitivity to Cisplatin and Reduces Cancer Stem Cell Potential.Cancer genomics & proteomicsArticle
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
NCLs (neuronal ceroid lipofuscinoses), a group of inherited neurodegenerative lysosomal storage diseases that predominantly affect children, are the result of autosomal recessive mutations within one of the nine cln genes. The wild-type cln gene products are composed of membrane and soluble proteins that localize to the lysosome or the ER (endoplasmic reticulum). However, the destiny of the Cln variants has not been fully characterized. To explore a possible link between ER quality control and processing of Cln mutants, we investigated the fate of two NCL-related Cln6 mutants found in patient samples (Cln6(G123D) and Cln6(M241T)) in neuronal-derived human cells. The point mutations are predicted to be in the putative transmembrane domains and most probably generate misfolded membrane proteins that are subjected to ER quality control. Consistent with this paradigm, both mutants underwent rapid proteasome-mediated degradation and complexed with components of the ER extraction apparatus, Derlin-1 and p97. In addition, knockdown of SEL1L [sel-1 suppressor of lin-12-like (Caenorhabditis elegans)], a member of an E3 ubiquitin ligase complex involved in ER protein extraction, rescued significant amounts of Cln6(G123D) and Cln6(M241T) polypeptides. The results implicate ER quality control in the instability of the Cln variants that probably contributes to the development of NCL.
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