(Q28589863)

English

Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis

scientific journal article

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scholarly article

2 references

31 January 2017

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20826447%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis (English)

2 references

31 January 2017

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20826447%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Infantile neuronal ceroid lipofuscinosis

0 references

Major facilitator superfamily domain containing 8

1 reference

GOA release 2020-03-11

3

1 reference

Europe PubMed Central

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13 February 2020

6

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13 February 2020

Helena Hůlková

7

1 reference

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13 February 2020

8

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13 February 2020

author name string

A Sharifi

1

1 reference

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13 February 2020

M Kousi

2

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13 February 2020

G C Bellenchi

4

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13 February 2020

L Morel

5

1 reference

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13 February 2020

C Debacker

9

1 reference

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13 February 2020

S El Mestikawy

10

1 reference

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13 February 2020

M Elleder

11

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13 February 2020

A-E Lehesjoki

12

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13 February 2020

A Jalanko

13

1 reference

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13 February 2020

B Gasnier

14

1 reference

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13 February 2020

A Kyttälä

15

1 reference

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13 February 2020

publication date

7 September 2010

1 reference

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13 February 2020

Human Molecular Genetics

2 references

31 January 2017

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20826447%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

19

2 references

31 January 2017

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13 February 2020

22

2 references

31 January 2017

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20826447%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

4497-4514

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20826447%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

17 March 2017

Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

17 March 2017

Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

17 March 2017

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

17 March 2017

Localization to mature melanosomes by virtue of cytoplasmic dileucine motifs is required for human OCA2 function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

17 March 2017

Analyzing real-time PCR data by the comparative C(T) method

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

17 March 2017

Integral and associated lysosomal membrane proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

17 March 2017

The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

17 March 2017

Cell-autonomous death of cerebellar purkinje neurons with autophagy in Niemann-Pick type C disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

17 March 2017

Varied mechanisms underlie the free sialic acid storage disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

17 March 2017

CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

17 March 2017

Defective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase A

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

17 March 2017

Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

17 March 2017

The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

17 March 2017

Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

17 March 2017

CLN3 protein is targeted to neuronal synapses but excluded from synaptic vesicles: new clues to Batten disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

17 March 2017

Simultaneous binding of PtdIns(4,5)P2 and clathrin by AP180 in the nucleation of clathrin lattices on membranes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

17 March 2017

The targeting of cystinosin to the lysosomal membrane requires a tyrosine-based signal and a novel sorting motif

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

17 March 2017

The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

17 March 2017

Endolyn is a mucin-like type I membrane protein targeted to lysosomes by its cytoplasmic tail

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

17 March 2017

The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

17 March 2017

Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

17 March 2017

CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

17 March 2017

Major facilitator superfamily

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

17 March 2017

Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

17 March 2017

Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

17 March 2017

Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

17 March 2017

Human leucocyte aspartylglucosaminidase. Evidence for two different subunits in a more complex native structure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

17 March 2017

Signals for sorting of transmembrane proteins to endosomes and lysosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

7 April 2017

Lysosomal targeting of the CLN7 membrane glycoprotein and transport via the plasma membrane require a dileucine motif

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

29 September 2017

VGLUT3 (vesicular glutamate transporter type 3) contribution to the regulation of serotonergic transmission and anxiety

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

29 September 2017

Conditional Niemann-Pick C mice demonstrate cell autonomous Purkinje cell neurodegeneration.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

29 September 2017

Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

29 September 2017

Molecular and cellular basis of lysosomal transmembrane protein dysfunction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

29 September 2017

Sorting of lysosomal proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

29 September 2017

A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

29 September 2017

Removal of sialic acid involving Klotho causes cell-surface retention of TRPV5 channel via binding to galectin-1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

29 September 2017

Molecular physiology and pathophysiology of lysosomal membrane transporters

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

29 September 2017

Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

29 September 2017

Cathepsin D deficiency is associated with a human neurodegenerative disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

29 September 2017

AP-1 and AP-3 facilitate lysosomal targeting of Batten disease protein CLN3 via its dileucine motif.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

29 September 2017

Functional characterization of wild-type and mutant human sialin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

29 September 2017

Regulation of cytokine receptors by Golgi N-glycan processing and endocytosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

29 September 2017

Two motifs target Batten disease protein CLN3 to lysosomes in transfected nonneuronal and neuronal cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

29 September 2017

The Di-leucine motif of vesicle-associated membrane protein 4 is required for its localization and AP-1 binding

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

29 September 2017

Lysosomal targeting of P-selectin is mediated by a novel sequence within its cytoplasmic tail

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

29 September 2017

Human immunodeficiency virus coat protein gp120 inhibits the beta-adrenergic regulation of astroglial and microglial functions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

29 September 2017

Motor deficit in a Drosophila model of mucolipidosis type IV due to defective clearance of apoptotic cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

3 June 2018

Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

3 June 2018

Primary culture of identified neurons from the visual cortex of postnatal rats.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

3 June 2018

Neuronal ceroid lipofuscinoses

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ381

21 January 2018

Isolation of a novel gene underlying batten disease, CLN3

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ381

21 January 2018

Loss of the Batten disease gene CLN3 prevents exit from the TGN of the mannose 6-phosphate receptor.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ381

21 January 2018

GLUT8 contains a [DE]XXXL[LI] sorting motif and localizes to a late endosomal/lysosomal compartment

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ381

21 January 2018

Lysosomal degradation of endocytosed proteins depends on the chloride transport protein ClC-7.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ381

21 January 2018

Targeting of the 5-HT1A serotonin receptor to neuronal dendrites is mediated by Yif1B.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ381

21 January 2018

The vesicular glutamate transporter VGLUT3 synergizes striatal acetylcholine tone

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ381

21 January 2018

Requirement for Galectin-3 in Apical Protein Sorting

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ381

21 January 2018

A Proteomic Analysis of Lysosomal Integral Membrane Proteins Reveals the Diverse Composition of the Organelle

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ381

21 January 2018

Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298853

27 November 2018

Heterotypic and homotypic cellular interactions influencing the growth and differentiation of bipotential oligodendrocyte-type-2 astrocyte progenitors in culture

1 reference

https://pubmed.ncbi.nlm.nih.gov/20826447

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/HMG/DDQ381

2 references

31 January 2017

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20826447%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20826447%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

2 references

31 January 2017

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20826447%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

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