Description:
MUCOLIPIDOSIS IV
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Ethnicity
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ASHKENAZI
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| PDL at Freeze |
6.2 |
| Passage Frozen |
6 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Remarks |
Ashkenazi; approx 25% of control neuraminidase activity employing GD1a and GD1b gangliosides |
| Scotto Rosato A, Montefusco S, Soldati C, Di Paola S, Capuozzo A, Monfregola J, Polishchuk E, Amabile A, Grimm C, Lombardo A, De Matteis MA, Ballabio A, Medina DL, TRPML1 links lysosomal calcium to autophagosome biogenesis through the activation of the CaMKKß/VPS34 pathway Nature communications10:5630 2018 |
| PubMed ID: 31822666 |
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| Martina JA1, Puertollano R2., Protein phosphatase 2A stimulates activation of TFEB and TFE3 transcription factors in response to oxidative stress. Journal of Biological Chemistry293:12525-12534 2018 |
| PubMed ID: 29945972 |
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| Cuajungco MP, Basilio LC, Silva J, Hart T, Tringali J, Chen CC, Biel M, Grimm C, Cellular zinc levels are modulated by TRPML1-TMEM163 interaction Traffic (Copenhagen, Denmark)15:1247-65 2014 |
| PubMed ID: 25130899 |
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| Xu M, Liu K, Swaroop M, Sun W, Dehdashti SJ, McKew JC, Zheng W, A phenotypic compound screening assay for lysosomal storage diseases Journal of biomolecular screening19:168-75 2013 |
| PubMed ID: 23983233 |
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| Eichelsdoerfer JL1, Evans JA, Slaugenhaupt SA, Cuajungco MP., Zinc dyshomeostasis is linked with the loss of mucolipidosis IV-associated TRPML1 ion channel. J Biol Chem285(45):34304-8 2010 |
| PubMed ID: 20864526 |
| |
| Hantash FM, Olson SC, Anderson B, Buller A, Chen R, Crossly B, Sun W, Strom CM, Rapid one-step carrier detection assay of mucolipidosis IV mutations in the Ashkenazi Jewish population The Journal of molecular diagnostics : JMD8:282-7 2006 |
| PubMed ID: 16645217 |
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| Soyombo AA, Tjon-Kon-Sang S, Rbaibi Y, Bashllari E, Bisceglia J, Muallem S, Kiselyov K, TRP-ML1 regulates lysosomal pH and acidic lysosomal lipid hydrolytic activity The Journal of biological chemistry281:7294-301 2005 |
| PubMed ID: 16361256 |
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| Edelmann L, Dong J, Desnick RJ, Kornreich R, Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population. Am J Hum Genet70(4):1023-7 2002 |
| PubMed ID: 11845410 |
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| Bassi MT, Manzoni M, Monti E, Pizzo MT, Ballabio A, Borsani G, Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV. Am J Hum Genet67(5):1110-20 2000 |
| PubMed ID: 11013137 |
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| Goldin E, Cooney A, Kaneski CR, Brady RO, Schiffmann R, Mucolipidosis IV consists of one complementation group. Proc Natl Acad Sci U S A96:8562-6 1999 |
| PubMed ID: 10411915 |
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| Honey NK, Miller AL, Shows TB, The mucolipidoses: identification by abnormal electrophoretic patterns of lysosomal hydrolases. Am J Med Genet9:239-53 1981 |
| PubMed ID: 7282783 |
| Passage Frozen |
6 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids |
| Serum |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
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