(Q27311633)

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25521295%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

author name string

Natalie N Remis

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25521295%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Andrew J Castiglioni

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25521295%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Emma N Flores

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25521295%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Jorge A Cantú

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25521295%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Jaime García-Añoveros

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25521295%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

language of work or name

English

0 references

publication date

December 2014

0 references

published in

PLOS Genetics

1 reference

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11 June 2020

volume

10

1 reference

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11 June 2020

issue

12

1 reference

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11 June 2020

page(s)

e1004833

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25521295%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

11 June 2020

copyright license

start time

18 December 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

describes a project that uses

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4270466/fullTextXML

inferred from PubMed Central ID database lookup

cites work

The varitint-waddler (Va) deafness mutation in TRPML3 generates constitutive, inward rectifying currents and causes cell degeneration

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Neurologic, gastric, and opthalmologic pathologies in a murine model of mucolipidosis type IV

21 March 2017

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Mutations in Mcoln3 associated with deafness and pigmentation defects in varitint-waddler (Va) mice

21 March 2017

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Cloning and characterization of the mouse Mcoln1 gene reveals an alternatively spliced transcript not seen in humans

21 March 2017

1 reference

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Causes of childhood deaths in Bangladesh: results of a nationwide verbal autopsy study

21 March 2017

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Mucolipidosis type IV: an update

21 March 2017

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The transcriptional repressor Blimp1/Prdm1 regulates postnatal reprogramming of intestinal enterocytes

21 March 2017

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Development and differentiation of the intestinal epithelium

21 March 2017

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PI(3,5)P2 controls membrane trafficking by direct activation of mucolipin Ca2+ release channels in the endolysosome

21 March 2017

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A single protocol to detect transcripts of various types and expression levels in neural tissue and cultured cells: in situ hybridization using digoxigenin-labelled cRNA probes

7 April 2017

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TRPML2 and mucolipin evolution.

7 April 2017

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Animal husbandry practices in rural Bangladesh: potential risk factors for antimicrobial drug resistance and emerging diseases

28 September 2017

1 reference

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A TRP channel in the lysosome regulates large particle phagocytosis via focal exocytosis

28 September 2017

1 reference

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Characterization and expression analysis of mcoln1.1 and mcoln1.2, the putative zebrafish co-orthologs of the gene responsible for human mucolipidosis type IV.

28 September 2017

1 reference

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Feast or famine: role of TRPML in preventing cellular amino acid starvation

28 September 2017

1 reference

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Drosophila TRPML is required for TORC1 activation

28 September 2017

1 reference

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Blimp1 regulates the transition of neonatal to adult intestinal epithelium

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270466

Expression and vesicular localization of mouse Trpml3 in stria vascularis, hair cells, and vomeronasal and olfactory receptor neurons

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270466

Mucolipin-3 regulates luminal calcium, acidification, and membrane fusion in the endosomal pathway

28 September 2017

1 reference

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Roles of CUP-5, the Caenorhabditis elegans orthologue of human TRPML1, in lysosome and gut granule biogenesis

28 September 2017

1 reference

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Lipid digestion and absorption in early life: an update

28 September 2017

1 reference

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The tissue-specific expression of TRPML2 (MCOLN-2) gene is influenced by the presence of TRPML1.

28 September 2017

1 reference

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The Ca(2+) channel TRPML3 regulates membrane trafficking and autophagy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270466

TRPMLs: in sickness and in health

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270466

Neuropathology of the Mcoln1(-/-) knockout mouse model of mucolipidosis type IV.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270466

Lysosomal trafficking functions of mucolipin-1 in murine macrophages

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270466

A helix-breaking mutation in TRPML3 leads to constitutive activity underlying deafness in the varitint-waddler mouse

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270466

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270466

Gain-of-function mutation in TRPML3 causes the mouse Varitint-Waddler phenotype

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270466

Molecular morphology of the digestive tract; macromolecules and food allergens are transferred intact across the intestinal absorptive cells during the neonatal-suckling period

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270466

Lysosomal localization of TRPML3 depends on TRPML2 and the mucolipidosis-associated protein TRPML1

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270466

CUPpling calcium to lysosomal biogenesis.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270466

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270466

28 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=4270466

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270466

Development of intestinal transport function in mammals

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270466

A fine structural study of cytodifferentiation during cleavage, blastula, and gastrula stages of Fundulus heteroclitus

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270466

Interleukin-6 production by human monocytes treated with granulocyte-macrophage colony-stimulating factor in the presence of lipopolysaccharide of oral microorganisms

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270466

Functional changes in THP-1 human monocytic cells after stimulation with lipopolysaccharide of oral microorganisms and granulocyte macrophage colony stimulating factor

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270466

Fat digestion in the neonate

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270466

A genetic model for absent chylomicron formation: mice producing apolipoprotein B in the liver, but not in the intestine.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270466

The molecular basis of abetalipoproteinemia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270466

Mucolipidosis IV: morphology and histochemistry of an autopsy case.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270466

Membrane-bound and fluid-phase macromolecules enter separate prelysosomal compartments in absorptive cells of suckling rat ileum

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270466

Ontogeny of enzymes in the small intestine

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270466

Mucolipidosis IV. Clinical, ultrastructural, histochemical, and chemical studies of a case, including a brain biopsy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270466

Mucolipidosis IV: ocular, systemic, and ultrastructural findings

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270466

Cross-talk between TRPML1 channel, lipids and lysosomal storage diseases

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270466

Lipid storage disorders block lysosomal trafficking by inhibiting a TRP channel and lysosomal calcium release

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270466

Transient expression of the conserved zinc finger gene INSM1 in progenitors and nascent neurons throughout embryonic and adult neurogenesis

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270466

Morphologic and chemical biopsy findings in mucolipidosis IV.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270466

Histogenesis of the mouse jejunal mucosa, with special reference to proliferative cells and absorptive cells

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270466

Identification of the gene causing mucolipidosis type IV.

31 May 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004833

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004833

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004833

Mucolipin controls lysosome exocytosis in Dictyostelium

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004833

Mucolipidosis type IV: abnormal transport of lipids to lysosomes

21 January 2018

1 reference

12 December 2020

A cytological study of intestinal absorption in the suckling rat

1 reference

12 December 2020

Mucolipidosis type IV and the mucolipins

1 reference

12 December 2020

Biogenesis of the apical endosome-lysosome complex during differentiation of absorptive epithelial cells in rat ileum

1 reference

12 December 2020

10.1371/JOURNAL.PGEN.1004833

Identifiers

DOI

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25521295%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25521295%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

PubMed publication ID

25521295

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25521295%20AND%20SRC:MED&resulttype=core&format=json