(Q24319132)

neuronal ceroid lipofuscinosis

GOA release 2020-03-11

1 reference

Christine Van Broeckhoven

inferred from title

author

13

0 references

Julie van der Zee

9

Julie van der Zee

0 references

Helena Jahnová

Helena Jahnová

8

0 references

Anna Přistoupilová

Anna Přistoupilová

4

0 references

Sara E. Mole

Sara E Mole

15

0 references

Robert Ivánek

Robert Ivánek

6

0 references

Veronika Barešová

5

Veronika Barešová

0 references

Jaana Tyynelä-Vesterinen

12

Jaana Tyynelä

0 references

author name string

Lenka Nosková

1

0 references

Viktor Stránecký

2

0 references

Hana Hartmannová

3

0 references

Helena Hůlková

7

0 references

John F Staropoli

10

0 references

Katherine B Sims

11

0 references

Peter C G Nijssen

14

0 references

Milan Elleder

16

0 references

Stanislav Kmoch

American Journal of Human Genetics

17

0 references

language of work or name

English

0 references

publication date

12 August 2011

0 references

published in

0 references

volume

89

0 references

page(s)

241-52

0 references

issue

2

0 references

describes a project that uses

limma

1 reference

Europe PubMed Central

22 June 2022

https://europepmc.org/article/PMC/3155175

inferred from PubMed Central ID database lookup

cites work

Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155175

Alpha-synuclein promotes SNARE-complex assembly in vivo and in vitro

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155175

Quercetin targets cysteine string protein (CSPalpha) and impairs synaptic transmission

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155175

The cysteine-string domain of the secretory vesicle cysteine-string protein is required for membrane targeting

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155175

CSPalpha-deficiency causes massive and rapid photoreceptor degeneration

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155175

The Sequence Alignment/Map format and SAMtools

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155175

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155175

Oligomerization characteristics of cysteine string protein

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155175

Rab-alphaGDI activity is regulated by a Hsp90 chaperone complex

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155175

CSPalpha: the neuroprotective J protein

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155175

Application of homozygosity haplotype analysis to genetic mapping with high-density SNP genotype data

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155175

Hsp40 couples with the CSPalpha chaperone complex upon induction of the heat shock response

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155175

Palmitoylation and membrane interactions of the neuroprotective chaperone cysteine-string protein.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155175

RDJ2 (DNAJA2) chaperones neural G protein signaling pathways

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155175

Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155175

Dual role of the cysteine-string domain in membrane binding and palmitoylation-dependent sorting of the molecular chaperone cysteine-string protein.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155175

The synaptic vesicle protein CSP alpha prevents presynaptic degeneration.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155175

Neuroleptic malignant syndrome in Kufs' disease.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155175

Deconvolution improves colocalization analysis of multiple fluorochromes in 3D confocal data sets more than filtering techniques

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155175

A dominant form of neuronal ceroid-lipofuscinosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155175

CSPα promotes SNARE-complex assembly by chaperoning SNAP-25 during synaptic activity.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155175

Cysteine string protein-alpha prevents activity-dependent degeneration in GABAergic synapses.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155175

Electroencephalography in autosomal dominant adult neuronal ceroid lipofuscinosis.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155175

Autosomal dominant adult neuronal ceroid lipofuscinosis: a novel form of NCL with granular osmiophilic deposits without palmitoyl protein thioesterase 1 deficiency.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155175

Adult-onset neuronal ceroid lipofuscinosis (Kufs disease) with autosomal dominant inheritance in Alabama.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155175

Autosomal dominant adult neuronal ceroid lipofuscinosis: parkinsonism due to both striatal and nigral dysfunction.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155175

Paralysis and early death in cysteine string protein mutants of Drosophila

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155175

A Golgi and ultrastructural study of a dominant form of Kufs' disease

29 November 2018

1 reference

12 December 2020

HaploPainter: a tool for drawing pedigrees with complex haplotypes

1 reference

12 December 2020

Autosomal dominant Kufs' disease: a cause of early onset dementia

1 reference

12 December 2020

Chaperoning the SNAREs: a role in preventing neurodegeneration?

1 reference

12 December 2020

1 reference

12 December 2020

10.1016/J.AJHG.2011.07.003

Identifiers

DOI

1 reference

1076362

1076362

1 reference

1 reference

1 reference