Structural and functional analysis of a new desmin variant causing desmin-related myopathy (Q40773437)

23 September 2017

title

Structural and functional analysis of a new desmin variant causing desmin-related myopathy (English)

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23 September 2017

Goudeau B

1

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Dagvadorj A

2

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Rodrigues-Lima F

3

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Nédellec P

4

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Casteras-Simon M

5

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Perret E

6

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Langlois S

7

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Goldfarb L

8

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Vicart P

9

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23 September 2017

publication date

1 November 2001

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23 September 2017

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23 September 2017

volume

18

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issue

5

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23 September 2017

page(s)

388-396

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Alpha B-crystallin in cardiac tissue. Association with actin and desmin filaments

23 September 2017

cites work

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Substructure of cytoplasmic dense bodies and changes in distribution of desmin and alpha-actinin in developing smooth muscle cells

21 January 2018

1 reference

Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene

21 January 2018

1 reference

Intermediate filaments: structure, dynamics, function, and disease

21 January 2018

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Familial desmin-related myopathies and cardiomyopathies--from myopathology to molecular and clinical genetics. 36th European Neuromuscular Center (ENMC)-Sponsored International Workshop 20-22 October, 1995, Naarden, The Netherlands

21 January 2018

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Congenital myopathies with inclusion bodies: a brief review

21 January 2018

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Missense mutations in desmin associated with familial cardiac and skeletal myopathy

21 January 2018

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The intermediate filament protein consensus motif of helix 2B: its atomic structure and contribution to assembly

21 January 2018

1 reference

Site-directed mutagenesis by overlap extension using the polymerase chain reaction

21 January 2018

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Intermediate Filaments: A Chemically Heterogeneous, Developmentally Regulated Class of Proteins

21 January 2018

1 reference

Do the ends justify the mean? Proline mutations at the ends of the keratin coiled-coil rod segment are more disruptive than internal mutations

21 January 2018

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Desmin mutation responsible for idiopathic dilated cardiomyopathy

21 January 2018

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Alpha-helical, but not beta-sheet, propensity of proline is determined by peptide environment

21 January 2018

1 reference

Human desmin-coding gene: complete nucleotide sequence, characterization and regulation of expression during myogenesis and development

21 January 2018

1 reference

Cardiovascular lesions and skeletal myopathy in mice lacking desmin.

21 January 2018

1 reference

A dysfunctional desmin mutation in a patient with severe generalized myopathy

21 January 2018

1 reference

A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation

21 January 2018

1 reference

A novel de novo mutation in the desmin gene causes desmin myopathy with toxic aggregates.

21 January 2018

1 reference

Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy.

21 January 2018

1 reference

A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy

21 January 2018

1 reference

Truncated desmin in PtK2 cells induces desmin-vimentin-cytokeratin coprecipitation, involution of intermediate filament networks, and nuclear fragmentation: a model for many degenerative diseases

21 January 2018

1 reference

Microtubule nucleation and release from the neuronal centrosome

21 January 2018

1 reference

Intermediate filaments as mechanical integrators of cellular space

21 January 2018

1 reference

The amino acid sequence of chicken muscle desmin provides a common structural model for intermediate filament proteins.

21 January 2018

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Assignment of human desmin gene to band 2q35 by nonradioactive in situ hybridization

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.1210

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23 September 2017

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