(Q36930047)

English

Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia.

scientific article published on 06 January 2006

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scholarly article

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15 January 2020

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Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia (English)

1 reference

Europe PubMed Central

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15 January 2020

Ahmed Bouhouche

1

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15 January 2020

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Benomar A

2

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15 January 2020

Bouslam N

3

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15 January 2020

Chkili T

4

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15 January 2020

Yahyaoui M

5

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15 January 2020

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6 January 2006

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15 January 2020

Journal of Medical Genetics

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15 January 2020

43

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15 January 2020

5

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15 January 2020

441-443

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15 January 2020

Autosomal recessive mutilating sensory neuropathy with spastic paraplegia maps to chromosome 5p15.31-14.1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564519

29 September 2017

Mechanism of the eukaryotic chaperonin: protein folding in the chamber of secrets.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564519

29 September 2017

Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564519

29 September 2017

Function and regulation of cytosolic molecular chaperone CCT.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564519

29 September 2017

Slow axonal transport of the cytosolic chaperonin CCT with Hsc73 and actin in motor neurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564519

29 September 2017

Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564519

29 September 2017

Unfolding the role of chaperones and chaperonins in human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564519

29 September 2017

Eukaryotic chaperonin CCT stabilizes actin and tubulin folding intermediates in open quasi-native conformations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564519

29 September 2017

Individual subunits of the eukaryotic cytosolic chaperonin mediate interactions with binding sites located on subdomains of beta-actin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564519

29 September 2017

Spastic paraparesis and sensory neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564519

29 September 2017

Identification of six Tcp-1-related genes encoding divergent subunits of the TCP-1-containing chaperonin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564519

29 September 2017

Cystosolic chaperonin subunits have a conserved ATPase domain but diverged polypeptide-binding domains.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564519

29 September 2017

Hereditary sensory neuropathy with spastic paraplegia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564519

29 September 2017

Hereditary sensory neuropathy with spastic paraplegia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564519

4 September 2018

Identification of chaperonin CCT gamma subunit as a determinant of retinotectal development by whole-genome subtraction cloning from zebrafish no tectal neuron mutant

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564519

4 September 2018

Structures and co-regulated expression of the genes encoding mouse cytosolic chaperonin CCT subunits.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564519

4 September 2018

The development and pathogenesis of the sensory neuropathy in the mutant rat mf.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564519

4 September 2018

Hereditary spastic paraparesis with sensory neuropathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/16399879

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal recessive hereditary sensory neuropathy with spastic paraplegia

1 reference

https://pubmed.ncbi.nlm.nih.gov/16399879

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary sensory neuropathy with spinal cord disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/16399879

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.2005.039230

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16399879%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16399879%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16399879%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

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