Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins (Q28115540)

CLN6 transmembrane ER protein

1 reference

Palmitoyl-protein thioesterase 1

1 reference

CLN3 lysosomal/endosomal transmembrane protein, battenin

1 reference

CLN8 transmembrane ER and ERGIC protein

1 reference

tripeptidyl peptidase 1

1 reference

Ceroid lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease)

1 reference

Palmitoyl-protein thioesterase 1

1 reference

ATP synthase, H+ transporting mitochondrial F1 complex, beta subunit

1 reference

Ceroid-lipofuscinosis, neuronal 5

1 reference

Tripeptidyl peptidase I

1 reference

CLN8 transmembrane ER and ERGIC protein

1 reference

ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1

1 reference

neuronal ceroid lipofuscinosis

1 reference

6

0 references

author name string

Annina Lyly

1

1 reference

3 January 2017

Carina von Schantz

2

1 reference

3 January 2017

Claudia Heine

3

1 reference

3 January 2017

Mia-Lisa Schmiedt

4

1 reference

3 January 2017

Tessa Sipilä

5

1 reference

3 January 2017

Aija Kyttälä

https://scigraph.springernature.com/pub.10.1186/1471-2121-10-83

7

1 reference

3 January 2017

26 November 2009

1 reference

3 January 2017

1 reference

3 January 2017

10

1 reference

3 January 2017

83

1 reference

3 January 2017

0 references

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

20 March 2017

1 reference

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CLN-1 and CLN-5, genes for infantile and variant late infantile neuronal ceroid lipofuscinoses, are expressed in the embryonic human brain

20 March 2017

1 reference

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Palmitoyl protein thioesterase (PPT) localizes into synaptosomes and synaptic vesicles in neurons: implications for infantile neuronal ceroid lipofuscinosis (INCL)

20 March 2017

1 reference

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

20 March 2017

1 reference

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Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein

20 March 2017

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

20 March 2017

1 reference

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Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3

20 March 2017

1 reference

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TRAM, LAG1 and CLN8: members of a novel family of lipid-sensing domains?

20 March 2017

1 reference

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20 March 2017

1 reference

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

20 March 2017

1 reference

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

20 March 2017

1 reference

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Human palmitoyl protein thioesterase: evidence for lysosomal targeting of the enzyme and disturbed cellular routing in infantile neuronal ceroid lipofuscinosis

20 March 2017

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

20 March 2017

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The oxysterol-binding protein homologue ORP1L interacts with Rab7 and alters functional properties of late endocytic compartments

20 March 2017

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Palmitoyl protein thioesterase 1 is targeted to the axons in neurons

20 March 2017

1 reference

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

20 March 2017

1 reference

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20 March 2017

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Ectopic beta-chain of ATP synthase is an apolipoprotein A-I receptor in hepatic HDL endocytosis

20 March 2017

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Cathepsin D, a lysosomal protease, regulates ABCA1-mediated lipid efflux

20 March 2017

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

20 March 2017

1 reference

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20 March 2017

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ClC-7 requires Ostm1 as a beta-subunit to support bone resorption and lysosomal function

20 March 2017

1 reference

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Mice with Ppt1Deltaex4 mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons

20 March 2017

1 reference

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A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging

20 March 2017

1 reference

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The mouse ortholog of the neuronal ceroid lipofuscinosis CLN5 gene encodes a soluble lysosomal glycoprotein expressed in the developing brain

20 March 2017

1 reference

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20 March 2017

1 reference

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Brain gene expression profiles of Cln1 and Cln5 deficient mice unravels common molecular pathways underlying neuronal degeneration in NCL diseases

20 March 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency.

29 September 2017

1 reference

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Identification of novel lysosomal matrix proteins by proteome analysis

29 September 2017

1 reference

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The human brain mannose 6-phosphate glycoproteome: a complex mixture composed of multiple isoforms of many soluble lysosomal proteins

29 September 2017

1 reference

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Biosynthesis, glycosylation, and enzymatic processing in vivo of human tripeptidyl-peptidase I.

29 September 2017

1 reference

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Specific alterations in levels of mannose 6-phosphorylated glycoproteins in different neuronal ceroid lipofuscinoses

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790443

Neuronal ceroid-lipofuscinoses in childhood

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790443

Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790443

Deficiency of the INCL protein Ppt1 results in changes in ectopic F1-ATP synthase and altered cholesterol metabolism

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790443

A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790443

Palmitoyl protein thioesterase 1 (Ppt1)-deficient mouse neurons show alterations in cholesterol metabolism and calcium homeostasis prior to synaptic dysfunction.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790443

A missense mutation (c.184C>T) in ovine CLN6 causes neuronal ceroid lipofuscinosis in Merino sheep whereas affected South Hampshire sheep have reduced levels of CLN6 mRNA.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790443

CLN3P, the Batten's disease protein, is a novel palmitoyl-protein Delta-9 desaturase.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790443

Distribution of tripeptidyl peptidase I in human tissues under normal and pathological conditions

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790443

Increased brain lysosomal pepstatin-insensitive proteinase activity in patients with neurodegenerative diseases.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790443

Storage of saposins A and D in infantile neuronal ceroid-lipofuscinosis

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19941651

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinoses (Batten disease)

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19941651

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: First adult-onset patients of a childhood disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19941651