The DOI matches its Crossref record; 11 of the 11 references it cites were found in a registry or an index.
Autophagic dysfunction in mucolipidosis type IV patients
Open accessAbstract
Mutations in Mucolipin 1 (MCOLN1) have been linked to mucolipidosis type IV (MLIV), a lysosomal storage disease characterized by several neurological and ophthalmological abnormalities. It has been proposed that MCOLN1 might regulate transport of membrane components in the late endosomal-lysosomal pathway; however, the mechanisms by which defects of MCOLN1 function result in mental and psychomotor retardation remain largely unknown. In this study, we show constitutive activation of autophagy in fibroblasts obtained from MLIV patients. Accumulation of autophagosomes in MLIV cells was due to the increased de novo autophagosome formation and to delayed fusion of autophagosomes with late endosomes/lysosomes. Impairment of the autophagic pathway led to increased levels and aggregation of p62, suggesting that abnormal accumulation of ubiquitin proteins may contribute to the neurodegeneration observed in MLIV patients. In addition, we found that delivery of platelet-derived growth factor receptor to lysosomes is delayed in MCOLN1-deficient cells, suggesting that MCOLN1 is necessary for efficient fusion of both autophagosomes and late endosomes with lysosomes. Our data are in agreement with recent evidence showing that autophagic defects may be a common characteristic of many neurodegenerative disorders.
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Cites
LC3, a mammalian homologue of yeast Apg8p, is localized in autophagosome membranes after processing.
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Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia
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Cited by
Regulation of Mammalian Autophagy in Physiology and Pathophysiology
Ravikumar, B., Sarkar, S., Davies, J. E., Futter, M., Garcia-Arencibia, M., Green-Thompson, Z. W., Jimenez-Sanchez, M., Korolchuk, V. I., Lichtenberg, M., Luo, S., et al. (2010) · Physiological Reviews · doi:10.1152/physrev.00030.2009 · Cited by 1,727
Autophagy gone awry in neurodegenerative diseases
Wong, E., & Cuervo, A. M. (2010) · Nature Neuroscience · doi:10.1038/nn.2575 · Cited by 815
Autophagy regulation by nutrient signaling
Russell, R. C., Yuan, H.-X., & Guan, K.-L. (2014) · Cell Research · doi:10.1038/cr.2013.166 · Cited by 710
Machinery, regulation and pathophysiological implications of autophagosome maturation
Zhao, Y. G., Codogno, P., & Zhang, H. (2021) · Nature Reviews Molecular Cell Biology · doi:10.1038/s41580-021-00392-4 · Cited by 572
Raffaello, A., Mammucari, C., Gherardi, G., & Rizzuto, R. (2016) · Trends in Biochemical Sciences · doi:10.1016/j.tibs.2016.09.001 · Cited by 536
Metadata
- Authors
- Vergarajauregui, S., Connelly, P. S., Daniels, M. P., & Puertollano, R.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2008-06-11
- Volume
- 17
- Issue
- 17
- Pages
- 2723-2737
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2138085505
- Cited by
- 175
- References
- 11
- FWCI
- 9.42
- Type
- journal article
- Language
- en
- Open access
- hybrid
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