Mucolipidosis type IV: the effect of increased lysosomal pH on the abnormal lysosomal storage. (Q41939025)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19247216%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

title

Mucolipidosis type IV: the effect of increased lysosomal pH on the abnormal lysosomal storage (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19247216%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

main subject

mucolipidosis type IV

1 reference

3

1 reference

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22 January 2020

author name string

Aviram Kogot-Levin

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19247216%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Marsha Zeigler

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19247216%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Gideon Bach

series ordinal

4

1 reference

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22 January 2020

language of work or name

English

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publication date

1 June 2009

1 reference

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22 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19247216%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

volume

65

1 reference

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22 January 2020

issue

6

1 reference

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22 January 2020

page(s)

686-690

1 reference

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https://scigraph.springernature.com/pub.10.1203/pdr.0b013e3181a1681a

22 January 2020

exact match

0 references

cites work

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Mucolipin-1 is a lysosomal membrane protein required for intracellular lactosylceramide traffic

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TRP-ML1 is a lysosomal monovalent cation channel that undergoes proteolytic cleavage

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Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel.

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Identification and characterization of the single channel function of human mucolipin-1 implicated in mucolipidosis type IV, a disorder affecting the lysosomal pathway

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The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channel

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TRP-ML1 regulates lysosomal pH and acidic lysosomal lipid hydrolytic activity

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Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population

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21 January 2018

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Fluorescence probe measurement of the intralysosomal pH in living cells and the perturbation of pH by various agents

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Mucolipidosis IV consists of one complementation group

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Cytoplasmic vacuolation of mouse peritoneal macrophages and the uptake into lysosomes of weakly basic substances

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