Congenital corneal clouding with abnormal systemic storage bodies: A new variant of mucolipidosis

Berman, E.R.; Livni, Nelly; Shapira, E.; Merin, Saul; Levij, I. S.

doi:10.1016/s0022-3476(74)80671-2

Cited by 169 publications

(97 citation statements)

References 13 publications

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“…Mucolipidosis type IV is a neurodegenerative lysosomal storage disorder (Berman et al, 1974), characterized by abnormally large lysosomes containing electron-dense inclusions and lipid storage bodies (Folkerth et al, 1995). It is caused by mutations in the MCOLN1 gene (Bargal et al, 2000;Bassi et al, 2000;Sun et al, 2000), which encodes a transient receptor potential (TRP) channel, named mucolipin-1 (or TRP-ML1).…”

Section: Introductionmentioning

confidence: 99%

Mucolipin controls lysosome exocytosis in Dictyostelium

Lima

Leuba

Soldati

et al. 2012

Journal of Cell Science

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SummaryMucolipidosis type IV is a poorly understood lysosomal storage disease caused by alterations in the mucolipin lysosomal Ca 2+ channel. In this study, we generated mucolipin-knockout Dictyostelium cells, and observed that lysosome exocytosis was markedly increased in these cells compared with wild-type cells. In addition, mucolipin-knockout cells were more resistant to Ca 2+ deprivation, and the Ca 2+ concentration in their secretory lysosomes was decreased, suggesting that mucolipin transfers Ca 2+ ions from the cytosol to the lumen of secretory lysosomes. We speculate that mucolipin attenuates the fusogenic effect of local cytosolic increases in Ca 2+ by dissipating them into the lumen of lysosomal compartments.

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Section: Introductionmentioning

confidence: 99%

Mucolipin controls lysosome exocytosis in Dictyostelium

Lima

Leuba

Soldati

et al. 2012

Journal of Cell Science

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“…1). It is an autosomal recessive lysosomal storage disorder often characterized by severe neurodevelopmental abnormalities, neuro-retinal degeneration and other ophthalmologic signs such as corneal opacity and strabismus.…”

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confidence: 99%

A small molecule restores function to TRPML1 mutant isoforms responsible for mucolipidosis type IV

et al. 2014

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“…Figure 1 demonstrate the effect of incubating cultured cells immediately after their passage in the presence of 0.01 M Nigericin for 5 d before EM. It is clear that the nature of the stored materials has been changed by this treatment so that there is a reduction in the content of lamellated bodies, which represent amphiphilic lipoid materials, and there are now predominantly storage vesicles containing granulated materials, which represent water-soluble substances (22)(23)(24)(25). The total number of storage vesicles has not changed.…”

Section: Resultsmentioning

confidence: 99%

Mucolipidosis Type IV: The Effect of Increased Lysosomal pH on the Abnormal Lysosomal Storage

et al. 2009

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Mucolipidosis type IV (MLIV) is a neurodegenerative channelopathy that is caused by the deficiency of TRPML1 activity, a nonselective cation channel. TRPML1 is a lysosomal membrane protein, and thus, MLIV is a lysosomal storage disorder. The basic, specific function of TRPML1 has not been yet clarified. A recent report (Soyombo AA, Tjon-Kon-Sang S, Rbaibi Y, Bashllari E, Bisceglia J, Muallem S, Kiselyov K: J Biol Chem 281:7294 -7301, 2006) indicated that TRPML1 functions as an outwardly proton channel whose function is the prevention of overacidification of these organelles. Thus, in MLIV the lysosomal pH is lower than normal. Furthermore, attempts by these investigators to increase slightly the lysososmal pH with either Nigericin or Chloroquine suggested corrective effect of the abnormal storage in MLIV cells. We investigated this approach using these agents with cultured fibroblasts from severely affected and milder patients. Our data indicated that there was no reduction in the total number of storage vesicles by either agent, although Nigericin resulted in a change in the nature of the storage materials, reducing the presence of lamellated substances (lipids) so that the storage vesicles contained predominantly granulated substances. On the other hand, transfection with the normal MCOLN1 cDNA (the gene coding for TRPML1) resulted in the removal of almost all the storage materials. (Pediatr Res 65: 686-690, 2009)

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Congenital corneal clouding with abnormal systemic storage bodies: A new variant of mucolipidosis

Cited by 169 publications

References 13 publications

Mucolipin controls lysosome exocytosis in Dictyostelium

Mucolipin controls lysosome exocytosis in Dictyostelium

A small molecule restores function to TRPML1 mutant isoforms responsible for mucolipidosis type IV

Mucolipidosis Type IV: The Effect of Increased Lysosomal pH on the Abnormal Lysosomal Storage

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