Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy (Q36842582)

16 August 2017

Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy (English)

1 reference

epidermolysis bullosa simplex with muscular dystrophy

16 August 2017

0 references

Lilli Winter

1

0 references

Patrick N. Harter

Patrick N Harter

3

0 references

Christian T Thiel

Christian T Thiel

8

0 references

Heinz Jungbluth

Heinz Jungbluth

Ursula Schlötzer-Schrehardt

7

0 references

9

Ursula Schlötzer-Schrehardt

1 reference

16 August 2017

4

Michel Mittelbronn

1 reference

16 August 2017

5

Cornelia Kornblum

1 reference

16 August 2017

Matthias Türk

2

1 reference

16 August 2017

Fiona Norwood

6

1 reference

16 August 2017

Rolf Schröder

10

1 reference

16 August 2017

27 April 2016

1 reference

Acta Neuropathologica Communications

16 August 2017

1 reference

16 August 2017

4

1 reference

16 August 2017

1

1 reference

16 August 2017

44

1 reference

Plectin isoform P1b and P1d deficiencies differentially affect mitochondrial morphology and function in skeletal muscle

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4847350

The rod domain is not essential for the function of plectin in maintaining tissue integrity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4847350

Left ventricular non-compaction cardiomyopathy associated with epidermolysis bullosa simplex with muscular dystrophy and PLEC1 mutation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4847350

Chemical chaperone ameliorates pathological protein aggregation in plectin-deficient muscle

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4847350

The many faces of plectin and plectinopathies: pathology and mechanisms

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4847350

Plectin isoforms as organizers of intermediate filament cytoarchitecture

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4847350

Integrative genomics viewer

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4847350

Fast and accurate long-read alignment with Burrows-Wheeler transform

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4847350

Myofibrillar myopathies: a clinical and myopathological guide.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4847350

Myofiber integrity depends on desmin network targeting to Z-disks and costameres via distinct plectin isoforms.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4847350

The mouse synemin gene encodes three intermediate filament proteins generated by alternative exon usage and different open reading frames

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4847350

Role of binding of plectin to the integrin beta4 subunit in the assembly of hemidesmosomes.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4847350

Plectin-isoform-specific rescue of hemidesmosomal defects in plectin (-/-) keratinocytes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4847350

Desmin cytoskeleton linked to muscle mitochondrial distribution and respiratory function.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4847350

Recessive epidermolysis bullosa simplex associated with plectin mutations: infantile respiratory complications in two unrelated cases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4847350

Plectin transcript diversity: identification and tissue distribution of variants with distinct first coding exons and rodless isoforms

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4847350

Occurrence and immunolocalization of plectin in tissues

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4847350

Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4847350

Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4847350

Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4847350

Association of plectin with Z-discs is a prerequisite for the formation of the intermyofibrillar desmin cytoskeleton.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4847350

PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy

5 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27121971

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Epidermolysis bullosa simplex associated with muscular dystrophy and cardiac involvement

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27121971

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Protein aggregate myopathies: the many faces of an expanding disease group

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27121971

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S40478-016-0314-7

1 reference

Dimensions Publication ID

16 August 2017

0 references

1 reference

16 August 2017

PubMed publication ID

27121971

1 reference