Translational research and therapeutic perspectives in dysferlinopathies. (Q37873747)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21556485%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

review article

1 reference

title

Translational research and therapeutic perspectives in dysferlinopathies (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21556485%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21556485%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21556485%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

Nicolas Wein

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21556485%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

Martin Krahn

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21556485%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

Marc Bartoli

series ordinal

1 reference

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31 January 2020

language of work or name

English

0 references

publication date

6 May 2011

1 reference

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31 January 2020

1 reference

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31 January 2020

volume

1 reference

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31 January 2020

issue

9-10

1 reference

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31 January 2020

page(s)

875-882

1 reference

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Characterization of dysferlin deficient SJL/J mice to assess preclinical drug efficacy: fasudil exacerbates muscle disease phenotype

31 January 2020

cites work

1 reference

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6 September 2017

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Identification of novel families and classification of the C2 domain superfamily elucidate the origin and evolution of membrane targeting activities in eukaryotes

6 September 2017

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Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins.

6 September 2017

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Effects of rituximab in two patients with dysferlin-deficient muscular dystrophy

6 September 2017

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Reduced plasma membrane expression of dysferlin mutants is attributed to accelerated endocytosis via a syntaxin-4-associated pathway

6 September 2017

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Membrane blebbing as an assessment of functional rescue of dysferlin-deficient human myotubes via nonsense suppression

6 September 2017

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Dysferlin interacts with tubulin and microtubules in mouse skeletal muscle

6 September 2017

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Myoferlin is required for insulin-like growth factor response and muscle growth

6 September 2017

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Extensive mononuclear infiltration and myogenesis characterize recovery of dysferlin-null skeletal muscle from contraction-induced injuries

6 September 2017

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Genetic manipulation of dysferlin expression in skeletal muscle: novel insights into muscular dystrophy

6 September 2017

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Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study

6 September 2017

1 reference

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Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin

6 September 2017

1 reference

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Characterization of lipid binding specificities of dysferlin C2 domains reveals novel interactions with phosphoinositides

6 September 2017

1 reference

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Dysferlin deficiency shows compensatory induction of Rab27A/Slp2a that may contribute to inflammatory onset.

6 September 2017

1 reference

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Impaired recovery of dysferlin-null skeletal muscle after contraction-induced injury in vivo

6 September 2017

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Serotype-dependent packaging of large genes in adeno-associated viral vectors results in effective gene delivery in mice.

6 September 2017

1 reference

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Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle

6 September 2017

1 reference

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Dysferlin-deficient muscular dystrophy features amyloidosis.

6 September 2017

1 reference

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Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes

6 September 2017

1 reference

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Ins and outs of therapy in limb girdle muscular dystrophies.

6 September 2017

1 reference

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AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188867

Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse

6 September 2017

1 reference

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Mutation impact on dysferlin inferred from database analysis and computer-based structural predictions.

6 September 2017

1 reference

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Membrane binding and subcellular targeting of C2 domains

6 September 2017

1 reference

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Calpain 3: a key regulator of the sarcomere?

6 September 2017

1 reference

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Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding.

6 September 2017

1 reference

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Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3

6 September 2017

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The differential gene expression profiles of proximal and distal muscle groups are altered in pre-pathological dysferlin-deficient mice

6 September 2017

1 reference

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Dysferlin interacts with affixin (beta-parvin) at the sarcolemma

6 September 2017

1 reference

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Ultrastructural changes in dysferlinopathy support defective membrane repair mechanism

6 September 2017

1 reference

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Trans-splicing adeno-associated viral vector-mediated gene therapy is limited by the accumulation of spliced mRNA but not by dual vector coinfection efficiency

6 September 2017

1 reference

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Dysferlin and the plasma membrane repair in muscular dystrophy

6 September 2017

1 reference

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Dysferlin in a hyperCKaemic patient with caveolin 3 mutation and in C2C12 cells after p38 MAP kinase inhibition

6 September 2017

1 reference

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AHNAK interaction with the annexin 2/S100A10 complex regulates cell membrane cytoarchitecture

6 September 2017

1 reference

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Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population

6 September 2017

1 reference

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Surface wound healing: a new, general function of eukaryotic cells

6 September 2017

1 reference

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Dysferlin Interacts with Annexins A1 and A2 and Mediates Sarcolemmal Wound-healing

6 September 2017

1 reference

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Repairing the tears: dysferlin in muscle membrane repair

6 September 2017

1 reference

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U7 snRNAs induce correction of mutated dystrophin pre-mRNA by exon skipping

6 September 2017

1 reference

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Defective membrane repair in dysferlin-deficient muscular dystrophy

6 September 2017

1 reference

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The carboxyl-terminal region of ahnak provides a link between cardiac L-type Ca2+ channels and the actin-based cytoskeleton

6 September 2017

1 reference

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Calcium-sensitive phospholipid binding properties of normal and mutant ferlin C2 domains

6 September 2017

1 reference

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The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle

6 September 2017

1 reference

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Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy

6 September 2017

1 reference

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The giant protein AHNAK is a specific target for the calcium- and zinc-binding S100B protein: potential implications for Ca2+ homeostasis regulation by S100B.

6 September 2017

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Cloning of the mouse dysferlin gene and genomic characterization of the SJL-Dysf mutation

6 September 2017

1 reference

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Trans-splicing vectors expand the utility of adeno-associated virus for gene therapy

6 September 2017

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Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Clinical and genetic features.

6 September 2017

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Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy

6 September 2017

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Adeno-associated viral vectors for gene transfer and gene therapy

6 September 2017

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Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s)

6 September 2017

1 reference

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Dysferlin is a plasma membrane protein and is expressed early in human development

6 September 2017

1 reference

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A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness

6 September 2017

1 reference

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6 September 2017

1 reference

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Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

6 September 2017

1 reference

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The C2 domain calcium-binding motif: structural and functional diversity

6 September 2017

1 reference

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PEST sequences and regulation by proteolysis

6 September 2017

1 reference

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Structure of the first C2 domain of synaptotagmin I: A novel Ca2+/phospholipid-binding fold

6 September 2017

1 reference

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Little vector, big gene transduction: fragmented genome reassembly of adeno-associated virus

6 September 2017

1 reference

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The endocytic recycling protein EHD2 interacts with myoferlin to regulate myoblast fusion.

14 September 2017

1 reference

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From T-tubule to sarcolemma: damage-induced dysferlin translocation in early myogenesis

14 September 2017

1 reference

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Two endoplasmic reticulum-associated degradation (ERAD) systems for the novel variant of the mutant dysferlin: ubiquitin/proteasome ERAD(I) and autophagy/lysosome ERAD(II).

14 September 2017

1 reference

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Regulated exocytosis: a novel, widely expressed system.

14 September 2017

1 reference

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Normal myoblast fusion requires myoferlin

14 September 2017

1 reference

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Therapeutic exon 'switching' for dysferlinopathies?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188867

Dysferlin is expressed in human placenta but does not associate with caveolin

23 June 2018

1 reference

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The earliest pathologic alterations in dysferlinopathy

23 June 2018

1 reference

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A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188867

Role of thrombospondin 1 in macrophage inflammation in dysferlin myopathy.

1 September 2018

1 reference

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Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188867

Exclusion of mutations in the dysferlin alternative exons 1 of DYSF-v1, 5a, and 40a in a cohort of 26 patients

1 September 2018

1 reference

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3rd Annual Dysferlin Conference 2-5 June 2009, Boston, Massachusetts, USA.

1 September 2018

1 reference

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Identification of different genomic deletions and one duplication in the dysferlin gene using multiplex ligation-dependent probe amplification and genomic quantitative PCR.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188867

Identification and characterisation of human dysferlin transcript variants: implications for dysferlin mutational screening and isoforms

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188867

Analysis of the DYSF mutational spectrum in a large cohort of patients

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188867

FER-1 regulates Ca2+ -mediated membrane fusion during C. elegans spermatogenesis

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188867

Absence of dysferlin alters myogenin expression and delays human muscle differentiation "in vitro".

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188867

Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188867

Disruption of muscle membrane and phenotype divergence in two novel mouse models of dysferlin deficiency

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188867

Variable reduction of caveolin-3 in patients with LGMD2B/MM.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188867

Clinical heterogeneity in dysferlinopathy

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188867

Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188867

Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb--girdle muscular dystrophies.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188867

Lariat branch point mutation in the dysferlin gene with mild limb-girdle muscular dystrophy

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188867

Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle

1 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188867

Immortalized Skin Fibroblasts Expressing Conditional MyoD as a Renewable and Reliable Source of Converted Human Muscle Cells to Assess Therapeutic Strategies for Muscular Dystrophies: Validation of an Exon-Skipping Approach to Restore Dystrophin in D

3 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188867

A novel compound heterozygous dysferlin mutation in Miyoshi myopathy siblings responding to dantrolene

3 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188867

Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B

3 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188867

Limb-girdle muscular dystrophy in the United States

3 December 2018

1 reference

https://api.crossref.org/works/10.2119%2FMOLMED.2011.00084

Bipartite Ca2+-binding motif in C2 domains of synaptotagmin and protein kinase C

31 March 2020

1 reference

https://api.crossref.org/works/10.2119%2FMOLMED.2011.00084

A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and miyoshi myopathy

31 March 2020

1 reference

https://api.crossref.org/works/10.2119%2FMOLMED.2011.00084

Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies

31 March 2020

1 reference

https://api.crossref.org/works/10.2119%2FMOLMED.2011.00084

Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)

31 March 2020

1 reference

https://api.crossref.org/works/10.2119%2FMOLMED.2011.00084

Signaling from beta-adrenoceptor to L-type calcium channel: identification of a novel cardiac protein kinase A target possessing similarities to AHNAK

31 March 2020

1 reference

https://api.crossref.org/works/10.2119%2FMOLMED.2011.00084

Simultaneous maturation of transverse tubules and sarcoplasmic reticulum during muscle differentiation in the mouse

31 March 2020

1 reference

https://api.crossref.org/works/10.2119%2FMOLMED.2011.00084

Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies

31 March 2020

1 reference

https://api.crossref.org/works/10.2119%2FMOLMED.2011.00084

Dysferlinopathy in the Jews of the Caucasus: a frequent mutation in the dysferlin gene

31 March 2020

1 reference

https://api.crossref.org/works/10.2119%2FMOLMED.2011.00084

Efficient recovery of dysferlin deficiency by dual adeno-associated vector-mediated gene transfer

31 March 2020

1 reference

https://api.crossref.org/works/10.2119%2FMOLMED.2011.00084

Local dystrophin restoration with antisense oligonucleotide PRO051

31 March 2020

1 reference

https://api.crossref.org/works/10.2119%2FMOLMED.2011.00084

10.2119/MOLMED.2011.00084

31 March 2020

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21556485%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

31 January 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21556485%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

PubMed publication ID

21556485

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21556485%20AND%20SRC:MED&resulttype=core&format=json