Associated Papers
Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV-A Review and Case Series.
Jezela-Stanek A et al.
International Journal of Molecular Sciences, 2020
Long-term observation of a Japanese mucolipidosis IV patient with a novel homozygous p.F313del variant of MCOLN1.
Hayashi T et al.
American Journal of Medical Genetics. Part A, 2020
Functional multimerization of mucolipin channel proteins.
Curcio-Morelli C et al.
Journal of Cellular Physiology, 2010
Isolated ocular disease is associated with decreased mucolipin-1 channel conductance.
Goldin E et al.
Investigative Ophthalmology & Visual Science, 2008
Functional links between mucolipin-1 and Ca2+-dependent membrane trafficking in mucolipidosis IV.
LaPlante JM et al.
Biochemical and Biophysical Research Communications, 2004
Overexpression of wild-type and mutant mucolipin proteins in mammalian cells: effects on the late endocytic compartment organization.
Manzoni M et al.
Febs Letters, 2004
Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population.
Bargal R et al.
Human Mutation, 2001
Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel.
Sun M et al.
Human Molecular Genetics, 2000
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