(Q36699819)

15 August 2017

Membrane traffic and turnover in TRP-ML1-deficient cells: a revised model for mucolipidosis type IV pathogenesis (English)

1 reference

15 August 2017

mucolipidosis type IV

1 reference

Mark T Miedel

1

1 reference

15 August 2017

Youssef Rbaibi

2

1 reference

15 August 2017

Christopher J Guerriero

3

1 reference

15 August 2017

Grace Colletti

4

1 reference

15 August 2017

Kelly M Weixel

5

1 reference

15 August 2017

Ora A Weisz

6

1 reference

15 August 2017

Kirill Kiselyov

7

1 reference

15 August 2017

language of work or name

English

0 references

publication date

26 May 2008

1 reference

Journal of Experimental Medicine

15 August 2017

1 reference

15 August 2017

205

1 reference

15 August 2017

6

1 reference

15 August 2017

1477-1490

1 reference

describes a project that uses

15 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2413042/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Lysosomal trafficking functions of mucolipin-1 in murine macrophages

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413042

Activating mutation in a mucolipin transient receptor potential channel leads to melanocyte loss in varitint-waddler mice.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413042

Lysosomes: fusion and function

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413042

TRPML and lysosomal function

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413042

Mechanisms for cellular cholesterol transport: defects and human disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413042

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413042

Two di-leucine motifs regulate trafficking of mucolipin-1 to lysosomes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413042

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413042

Role of cholesterol and lipid organization in disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413042

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413042

Cation channel activity of mucolipin-1: the effect of calcium.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413042

Physiological functions of CLC Cl- channels gleaned from human genetic disease and mouse models

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413042

CUPpling calcium to lysosomal biogenesis.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413042

Caenorhabditis elegans functional orthologue of human protein h-mucolipin-1 is required for lysosome biogenesis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413042

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413042

Acidification and protein traffic

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413042

Membrane dynamics and the biogenesis of lysosomes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413042

Endocytic trafficking of glycosphingolipids in sphingolipid storage diseases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413042

The molecular basis of mucolipidosis type IV.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413042

Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs)

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413042

Genetic analysis of endocytosis in Caenorhabditis elegans: coelomocyte uptake defective mutants

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413042

30 September 2017

Mucolipidosis type IV.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413042

Regulation of endocytosis by CUP-5, the Caenorhabditis elegans mucolipin-1 homolog

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413042

Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413042

Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413042

Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413042

Abnormal transport along the lysosomal pathway in mucolipidosis, type IV disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413042

Constitutive achlorhydria in mucolipidosis type IV

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413042

Cultured skin fibroblasts derived from patients with mucolipidosis 4 are auto-fluorescent

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413042

Receptor-dependent hydrolysis of cholesteryl esters contained in plasma low density lipoprotein

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413042

Ganglioside GM3 sialidase activity in fibroblasts of normal individuals and of patients with sialidosis and mucolipidosis IV. Subcellular distribution and and some properties

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413042

Mitochondrial aberrations in mucolipidosis Type IV.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413042

Basis of lethality in C. elegans lacking CUP-5, the Mucolipidosis Type IV orthologue

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413042

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

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413042

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

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413042

Delayed lysosomal metabolism of lipids in mucolipidosis type IV fibroblasts after LDL-receptor-mediated endocytosis

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413042

Identification of the gene causing mucolipidosis type IV.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413042

The role of intraorganellar Ca(2+) in late endosome-lysosome heterotypic fusion and in the reformation of lysosomes from hybrid organelles

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413042

Characterization of intracellular pH gradients in human multidrug-resistant tumor cells by means of scanning microspectrofluorometry and dual-emission-ratio probes.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413042

Functional links between mucolipin-1 and Ca2+-dependent membrane trafficking in mucolipidosis IV

5 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1084%2FJEM.20072194

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413042

Lysosomal inclusions in gastric parietal cells in mucolipidosis type IV: a novel cause of achlorhydria and hypergastrinemia

4 December 2018

1 reference

12 December 2020

Metabolic fate of oleic acid derived from lysosomal degradation of cholesteryl oleate in human fibroblasts

1 reference

12 December 2020

Mucolipidosis IV: novel mutation and diverse ultrastructural spectrum in the skin

1 reference

12 December 2020

Mucolipidosis type IV: Ganglioside sialidase deficiency

1 reference

12 December 2020

Phospholipids accumulation in mucolipidosis IV cultured fibroblasts

1 reference

12 December 2020

Phosphatidylcholine storage in mucolipidosis IV

1 reference

12 December 2020

In vitro incorporation of radiolabeled cholesteryl esters into high and low density lipoproteins

1 reference

12 December 2020

[14C]Methylamine accumulation in cultured human skin fibroblasts--a biochemical test for lysosomal storage and lysosomal diseases

1 reference

12 December 2020

G(M2)-ganglioside metabolism in situ in mucolipidosis IV fibroblasts

1 reference

12 December 2020

Posttranslational cleavage and adaptor protein complex-dependent trafficking of mucolipin-1

1 reference

12 December 2020

CFTR regulates phagosome acidification in macrophages and alters bactericidal activity

1 reference

12 December 2020

Mucolipidosis type IV: abnormal transport of lipids to lysosomes

1 reference

12 December 2020

Elevated lysosomal pH in Mucolipidosis type IV cells

1 reference

12 December 2020

Identifiers

DOI

10.1084/JEM.20072194

1 reference

15 August 2017

1 reference

15 August 2017

1 reference