Overexpression of wild-type and mutant mucolipin proteins in mammalian cells

Effects on the late endocytic compartment organization

M. Manzoni, E. Monti, R. Bresciani, A. Bozzato, S. Barlati, M. T. Bassi, G. Borsani

Research output: Contribution to journalArticle

61 Citations (Scopus)

Abstract

Mucolipin-1 is a 65-kDa membrane protein encoded by the MCOLN1 gene, which is mutated in patients with mucolipidosis type IV (MLIV), a rare neurodegenerative lysosomal storage disorder. We studied the subcellular localization of wild-type and three different mutant forms (T232P, F408del and F465L) of mucolipin by expressing Myc-tagged proteins in HeLa cells. The overexpressed wild-type mucolipin colocalizes to late endocytic structures and induces an aberrant distribution of these compartments. F408del and F465L MLIV mutant proteins show a distribution similar to the wild-type protein, whereas T232P is retained in the endoplasmic reticulum. Among the mutants, only F408del induces a redistribution of the late endocytic compartment. These findings suggest that the overexpression of the mucolipin cation channel influences the dynamic equilibrium of late endocytic compartments.

Original languageEnglish
Pages (from-to)219-224
Number of pages6
JournalFEBS Letters
Volume567
Issue number2-3
DOIs
Publication statusPublished - Jun 4 2004

Fingerprint

Mucolipidoses
Mutant Proteins
Cells
HeLa Cells
Endoplasmic Reticulum
Cations
Membrane Proteins
Proteins
Genes

Keywords

  • AJ, Ashkenazi Jews
  • Lysosome
  • MCOLN1, mucolipin-1 gene
  • MLIV, mucolipidosis type IV
  • MLN1, mucolipin-1 protein
  • MLN2, mucolipin 2 protein
  • MLN3, mucolipin 3 protein
  • Mucolipidosis type IV
  • Mucolipin
  • PC2, polycystin-2
  • TRP, transient receptor potential

ASJC Scopus subject areas

  • Biochemistry
  • Biophysics
  • Molecular Biology

Cite this

Overexpression of wild-type and mutant mucolipin proteins in mammalian cells : Effects on the late endocytic compartment organization. / Manzoni, M.; Monti, E.; Bresciani, R.; Bozzato, A.; Barlati, S.; Bassi, M. T.; Borsani, G.

In: FEBS Letters, Vol. 567, No. 2-3, 04.06.2004, p. 219-224.

Research output: Contribution to journalArticle

Manzoni, M. ; Monti, E. ; Bresciani, R. ; Bozzato, A. ; Barlati, S. ; Bassi, M. T. ; Borsani, G. / Overexpression of wild-type and mutant mucolipin proteins in mammalian cells : Effects on the late endocytic compartment organization. In: FEBS Letters. 2004 ; Vol. 567, No. 2-3. pp. 219-224.
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