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Items: 1 to 20 of 176

1.

Lysosomal storage causes cellular dysfunction in mucolipidosis II skin fibroblasts.

Otomo T, Higaki K, Nanba E, Ozono K, Sakai N.

J Biol Chem. 2011 Oct 7;286(40):35283-90. doi: 10.1074/jbc.M111.267930. Epub 2011 Aug 16.

2.

Lysosomal integral membrane glycoproteins are expressed at high levels in the inclusion bodies of I-cell disease fibroblasts.

Sandoval IV, Chen JW, Yuan L, August JT.

Arch Biochem Biophys. 1989 May 15;271(1):157-67.

PMID:
2540710
3.

Protein catabolism in fibroblasts cultured from patients with mucolipidosis II and other lysosomal disorders.

Kopitz J, Arnold A, Meissner T, Cantz M.

Biochem J. 1993 Oct 15;295 ( Pt 2):577-80.

4.
5.

Elevated lysosomal pH in Mucolipidosis type IV cells.

Bach G, Chen CS, Pagano RE.

Clin Chim Acta. 1999 Feb;280(1-2):173-9.

PMID:
10090534
6.
8.

The effects of sucrose loading on lysosomal hydrolases.

Kato T, Okada S, Yutaka T, Yabuuchi H.

Mol Cell Biochem. 1984;60(1):83-98.

PMID:
6708943
9.
10.

Normalization of intracellular lysosomal hydrolases in I-cell disease fibroblasts with sucrose loading.

Kato T, Okada S, Ohshima T, Inui K, Yutaka T, Yabuuchi H.

J Biol Chem. 1982 Jul 10;257(13):7814-9.

12.

Inhibition of autophagosome formation restores mitochondrial function in mucolipidosis II and III skin fibroblasts.

Otomo T, Higaki K, Nanba E, Ozono K, Sakai N.

Mol Genet Metab. 2009 Dec;98(4):393-9. doi: 10.1016/j.ymgme.2009.07.002. Epub 2009 Jul 7.

PMID:
19656701
13.

Lysosomal cystine storage in cystinosis and mucolipidosis type II.

Greene AA, Jonas AJ, Harms E, Smith ML, Pellett OL, Bump EA, Miller AL, Schneider JA.

Pediatr Res. 1985 Nov;19(11):1170-4.

PMID:
4069825
14.

Analysis of mucolipidosis II/III GNPTAB missense mutations identifies domains of UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase involved in catalytic function and lysosomal enzyme recognition.

Qian Y, van Meel E, Flanagan-Steet H, Yox A, Steet R, Kornfeld S.

J Biol Chem. 2015 Jan 30;290(5):3045-56. doi: 10.1074/jbc.M114.612507. Epub 2014 Dec 11.

15.

Systemic accumulation of undigested lysosomal metabolites in an autopsy case of mucolipidosis type II; autophagic dysfunction in cardiomyocyte.

Sato Y, Kobayashi H, Sato S, Shimada Y, Fukuda T, Eto Y, Ohashi T, Ida H.

Mol Genet Metab. 2014 Jul;112(3):224-8. doi: 10.1016/j.ymgme.2014.05.001. Epub 2014 May 10.

PMID:
24857410
16.

Mitochondrial aberrations in mucolipidosis Type IV.

Jennings JJ Jr, Zhu JH, Rbaibi Y, Luo X, Chu CT, Kiselyov K.

J Biol Chem. 2006 Dec 22;281(51):39041-50. Epub 2006 Oct 20.

17.

Culture conditions found to minimize false positive diagnosis of lysosomal storage disorders.

Arnon J, Ornoy A, Bach G.

In Vitro Cell Dev Biol. 1988 Dec;24(12):1159-64.

PMID:
3209585
18.

Ultrastructural analysis of neuronal and non-neuronal lysosomal storage in mucolipidosis type II knock-in mice.

Schweizer M, Markmann S, Braulke T, Kollmann K.

Ultrastruct Pathol. 2013 Oct;37(5):366-72. doi: 10.3109/01913123.2013.810687.

PMID:
24047352
19.

Lysosomal Ca(2+) homeostasis: role in pathogenesis of lysosomal storage diseases.

Lloyd-Evans E, Platt FM.

Cell Calcium. 2011 Aug;50(2):200-5. doi: 10.1016/j.ceca.2011.03.010. Epub 2011 Jul 2. Review.

PMID:
21724254
20.

Inheritance, biochemical abnormalities, and clinical features of feline mucolipidosis II: the first animal model of human I-cell disease.

Mazrier H, Van Hoeven M, Wang P, Knox VW, Aguirre GD, Holt E, Wiemelt SP, Sleeper MM, Hubler M, Haskins ME, Giger U.

J Hered. 2003 Sep-Oct;94(5):363-73.

PMID:
14557388

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