(Q57588393)

English

Effects on Collagen VI mRNA Stability and Microfibrillar Assembly of ThreeCOL6A2Mutations in Two Families with Ullrich Congenital Muscular Dystrophy

scientific article published in Journal of Biological Chemistry

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scholarly article

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Effects on Collagen VI mRNA Stability and Microfibrillar Assembly of ThreeCOL6A2Mutations in Two Families with Ullrich Congenital Muscular Dystrophy (English)

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molecular biology

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Ullrich congenital muscular dystrophy

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Elisabetta Mattioli

object named as

Elisabetta Mattioli

5

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Guglielmina Pepe

object named as

Guglielmina Pepe

7

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Stefano Squarzoni

object named as

Stefano Squarzoni

4

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object named as

Enrico Bertini

6

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author name string

Rui-Zhu Zhang

1

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Patrizia Sabatelli

2

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Te-Cheng Pan

3

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Mon-Li Chu

8

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language of work or name

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publication date

5 September 2002

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number of pages

8

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based on heuristic

inferred from page(s)

Journal of Biological Chemistry

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277

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46

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43557-43564

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Congenital muscular dystrophies: 1997 update

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https://api.crossref.org/works/10.1074%2FJBC.M207696200

21 January 2018

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

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https://api.crossref.org/works/10.1074%2FJBC.M207696200

21 January 2018

Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207696200

21 January 2018

Benign myopathy, with autosomal dominant inheritance. A report on three pedigrees

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https://api.crossref.org/works/10.1074%2FJBC.M207696200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207696200

21 January 2018

Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207696200

21 January 2018

A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207696200

21 January 2018

Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207696200

21 January 2018

Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207696200

21 January 2018

A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathy

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207696200

21 January 2018

Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207696200

21 January 2018

Type VI collagen in extracellular, 100-nm periodic filaments and fibrils: identification by immunoelectron microscopy

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207696200

21 January 2018

A perfect message: RNA surveillance and nonsense-mediated decay

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207696200

21 January 2018

Nonsense-mediated mRNA decay in health and disease

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https://api.crossref.org/works/10.1074%2FJBC.M207696200

21 January 2018

When the message goes awry: disease-producing mutations that influence mRNA content and performance.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207696200

21 January 2018

Translation to near the distal end of the penultimate exon is required for normal levels of spliced triosephosphate isomerase mRNA.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207696200

21 January 2018

Two promoters control the transcription of the human alpha 2(VI) collagen gene

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207696200

21 January 2018

The C-propeptide domain of procollagen can be replaced with a transmembrane domain without affecting trimer formation or collagen triple helix folding during biosynthesis

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207696200

21 January 2018

Metaphyseal chondrodysplasia type Schmid mutations are predicted to occur in two distinct three-dimensional clusters within type X collagen NC1 domains that retain the ability to trimerize

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207696200

21 January 2018

The alpha1(VIII) and alpha2(VIII) chains of type VIII collagen can form stable homotrimeric molecules

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207696200

21 January 2018

Electron-microscopical approach to a structural model of intima collagen

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207696200

21 January 2018

Assembly of a novel cartilage matrix protein filamentous network: molecular basis of differential requirement of von Willebrand factor A domains

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207696200

21 January 2018

A clinical and histological study of Ullrich's disease (congenital atonic-sclerotic muscular dystrophy)

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207696200

21 January 2018

Collagen VI deficiency in Ullrich's disease

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207696200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207696200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207696200

21 January 2018

mRNA destabilization triggered by premature translational termination depends on at least three cis-acting sequence elements and one trans-acting factor

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207696200

21 January 2018

The role of the C1 and C2 a-domains in type VI collagen assembly

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207696200

21 January 2018

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10.1074/JBC.M207696200

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