Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain (Q35080325)

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English	Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain	scientific article

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scholarly article

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6 August 2017

Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain (English)

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Europe PubMed Central

PubMed publication ID

6 August 2017

1 reference

based on heuristic

inferred from title

Bethlem myopathy

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

3

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25533456%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

5

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25533456%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Shireen R Lamandé

6

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12 June 2020

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Laura K Zamurs

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12 June 2020

Miguel A Idoate

2

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12 June 2020

Asier Gomez-Ibañez

4

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12 June 2020

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publication date

22 December 2014

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6 August 2017

Journal of Biological Chemistry

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12 June 2020

290

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12 June 2020

7

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12 June 2020

4272-4281

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12 June 2020

Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies

1 reference

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8 July 2018

ColVI myopathies: where do we stand, where do we go?

1 reference

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8 July 2018

The collagen VI-related myopathies: muscle meets its matrix

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8 July 2018

Early onset collagen VI myopathies: Genetic and clinical correlations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326835

8 July 2018

Collagen VI microfibril formation is abolished by an {alpha}2(VI) von Willebrand factor type A domain mutation in a patient with Ullrich congenital muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326835

8 July 2018

EasyModeller: A graphical interface to MODELLER

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8 July 2018

Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326835

8 July 2018

Autosomal recessive Bethlem myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326835

8 July 2018

Autosomal recessive inheritance of classic Bethlem myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326835

8 July 2018

Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326835

8 July 2018

Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326835

8 July 2018

Three novel collagen VI chains, alpha4(VI), alpha5(VI), and alpha6(VI)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326835

8 July 2018

Sorting, recognition and activation of the misfolded protein degradation pathways through macroautophagy and the proteasome

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8 July 2018

The Strep-tag system for one-step purification and high-affinity detection or capturing of proteins

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8 July 2018

ERAD: the long road to destruction

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326835

8 July 2018

Distribution and evolution of von Willebrand/integrin A domains: widely dispersed domains with roles in cell adhesion and elsewhere

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326835

8 July 2018

Collagen X chains harboring Schmid metaphyseal chondrodysplasia NC1 domain mutations are selectively retained and degraded in stably transfected cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326835

8 July 2018

Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326835

8 July 2018

Proteasomal degradation of unassembled mutant type I collagen pro-alpha1(I) chains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326835

8 July 2018

Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326835

8 July 2018

Ultrastructure of type VI collagen in human skin and cartilage suggests an anchoring function for this filamentous network

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326835

8 July 2018

Methods of microphotometric assay of succinate dehydrogenase and cytochrome c oxidase activities for use on human skeletal muscle

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8 July 2018

Human alpha 3(VI) collagen gene. Characterization of exons coding for the amino-terminal globular domain and alternative splicing in normal and tumor cells.

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8 July 2018

The human type VI collagen gene. mRNA and protein variants of the alpha 3 chain generated by alternative splicing of an additional 5-end exon

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326835

8 July 2018

Autosomal recessive myosclerosis myopathy is a collagen VI disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326835

27 September 2018

Three novel collagen VI chains with high homology to the alpha3 chain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326835

27 September 2018

Endoplasmic reticulum stress: a new pathway to induce autophagy.

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27 September 2018

Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326835

27 September 2018

Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326835

27 September 2018

Kinked collagen VI tetramers and reduced microfibril formation as a result of Bethlem myopathy and introduced triple helical glycine mutations

1 reference

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27 September 2018

Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy

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https://api.crossref.org/works/10.1074%2FJBC.M114.632208

21 January 2018

Molecular consequences of dominant Bethlem myopathy collagen VI mutations

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https://api.crossref.org/works/10.1074%2FJBC.M114.632208

21 January 2018

A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations

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21 January 2018

Frameshift mutation in the collagen VI gene causes Ullrich's disease

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Endoplasmic reticulum-mediated quality control of type I collagen production by cells from osteogenesis imperfecta patients with mutations in the pro alpha 1 (I) chain carboxyl-terminal propeptide which impair subunit assembly

1 reference

https://pubmed.ncbi.nlm.nih.gov/25533456

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion

1 reference

https://pubmed.ncbi.nlm.nih.gov/25533456

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Early-onset benign limb-girdle myopathy with contractures and facial involvement affecting a father and daughter

1 reference

https://pubmed.ncbi.nlm.nih.gov/25533456

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1074/JBC.M114.632208

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25533456%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25533456%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25533456%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

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