Macroautophagy is defective in mucolipin-1-deficient mouse neurons [PDF]
Neurobiology of Disease, 2010 Mucolipidosis type IV is a neurodegenerative lysosomal disease clinically characterized by psychomotor retardation, visual impairment, and achlorhydria. In this study we report the development of a neuronal cell model generated from cerebrum of Mcoln1−/−
Susan Slaugenhaupt +2 more
exaly +5 more sources
Knock-Down of Mucolipin 1 Channel Promotes Tumor Progression and Invasion in Human Glioblastoma Cell Lines [PDF]
Frontiers in Oncology, 2021 Among cancers that affect the central nervous system, glioblastoma is the most common. Given the negative prognostic significance of transient receptor potential mucolipin 1 (TRPML1) channel reduction in patients with glioblastoma, as discussed in ...
Oliviero Marinelli +2 more
exaly +6 more sources
Lysosomal trafficking functions of mucolipin-1 in murine macrophages [PDF]
BMC Cell Biology, 2007 Background Mucolipidosis Type IV is currently characterized as a lysosomal storage disorder with defects that include corneal clouding, achlorhydria and psychomotor retardation. MCOLN1, the gene responsible for this disease, encodes the protein mucolipin-
Dang Hope +3 more
doaj +3 more sources
Two Di-Leucine Motifs Regulate Trafficking of Mucolipin-1 to Lysosomes [PDF]
Traffic, 2006 Mutations in the mucolipin‐1 gene have been linked to mucolipidosis type IV, a lysosomal storage disorder characterized by severe neurological and ophthalmologic abnormalities. Mucolipin‐1 is a membrane protein containing six putative transmembrane domains with both its N‐ and C‐termini localized facing the cytosol.
Rosa Puertollano +1 more
exaly +3 more sources
Mucolipin-1 Is a Lysosomal Membrane Protein Required for Intracellular Lactosylceramide Traffic [PDF]
Traffic, 2006 Mucolipin‐1 is a membrane protein encoded by the gene MCOLN1, mutations in which result in the lysosomal storage disorder mucolipidosis type IV (MLIV). Efficient lysosomal targeting of mucolipin‐1 requires di‐leucine motifs in both the N‐terminal and the C‐terminal cytosolic tails.
Frank Reimann +2 more
exaly +4 more sources
Curcumin Exerts Effects on the Pathophysiology of Alzheimer’s Disease by Regulating PI(3,5)P2 and Transient Receptor Potential Mucolipin-1 Expression [PDF]
Frontiers in Neurology, 2017 BackgroundTo validate our speculation that curcumin may ameliorate Alzheimer’s disease (AD) pathogenesis by regulating PI(3,5)P2 and transient receptor potential mucolipin-1 (TRPML1) expression levels.MethodsWe developed an animal model presenting AD by ...
Lu Zhang +6 more
doaj +3 more sources
The cation channel mucolipin-1 is a bifunctional protein that facilitates membrane remodeling via its serine lipase domain [PDF]
Experimental Cell Research, 2011 Phospholipase modulators have been shown to affect the topology of lipid bilayers and the formation of tubulo-vesicular structures, but the specific endogenous phospholipases involved have yet to be identified. Here we show that TRPML1 (MLN1), a Ca(2+)-permeable channel, contributes to membrane remodeling through a serine lipase consensus domain, and ...
Susan Slaugenhaupt
exaly +3 more sources
Identification and characterization of the single channel function of human mucolipin-1 implicated in mucolipidosis type IV, a disorder affecting the lysosomal pathway [PDF]
FEBS Letters, 2002 Mucolipin‐1 (MLN1) is a membrane protein with homology to the transient receptor potential channels and other non‐selective cation channels. It is encoded by the MCOLN1 gene, which is mutated in patients with mucolipidosis type IV (MLIV), an autosomal recessive disease that is characterized by severe abnormalities in neurological development as well as
LaPlante, Janice M +6 more
exaly +3 more sources
Retraction: Curcumin Exerts Effects on the Pathophysiology of Alzheimer's Disease by Regulating PI(3,5)P2 and Transient Receptor Potential Mucolipin-1 Expression [PDF]
Frontiers in Neurology, 2019 [This retracts the article DOI: 10.3389/fneur.2017.00531.].
Frontiers Editorial Office
doaj +3 more sources
The Dictyostelium Model for Mucolipidosis Type IV
Frontiers in Cell and Developmental Biology, 2022 Mucolipidosis type IV, a devastating neurological lysosomal disease linked to mutations in the transient receptor potential channel mucolipin 1, TRPML1, a calcium permeable channel in the membranes of vesicles in endolysosomal system.
Claire Y. Allan, Paul R. Fisher
doaj +1 more source