(Q27022787)

30 June 2018

review article

1 reference

title

Ferlins: regulators of vesicle fusion for auditory neurotransmission, receptor trafficking and membrane repair (English)

1 reference

30 June 2018

author

Kathryn North

4

1 reference

30 June 2018

author name string

Angela Lek

1

1 reference

30 June 2018

Frances J Evesson

2

1 reference

30 June 2018

R Bryan Sutton

3

1 reference

30 June 2018

Sandra T Cooper

5

1 reference

30 June 2018

language of work or name

1 reference

6 September 2011

1 reference

30 June 2018

published in

Traffic

1 reference

30 June 2018

volume

13

1 reference

30 June 2018

issue

2

1 reference

30 June 2018

page(s)

185-194

1 reference

30 June 2018

The crystal structure of the C₂A domain of otoferlin reveals an unconventional top loop region

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Endocytic recycling proteins EHD1 and EHD2 interact with fer-1-like-5 (Fer1L5) and mediate myoblast fusion

3 July 2018

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Impaired muscle growth and response to insulin-like growth factor 1 in dysferlin-mediated muscular dystrophy.

3 July 2018

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Proteomic analysis of the dysferlin protein complex unveils its importance for sarcolemmal maintenance and integrity

3 July 2018

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Control of exocytosis by synaptotagmins and otoferlin in auditory hair cells

3 July 2018

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Otoferlin is a calcium sensor that directly regulates SNARE-mediated membrane fusion

3 July 2018

1 reference

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A New Role for the Muscle Repair Protein Dysferlin in Endothelial Cell Adhesion and Angiogenesis

3 July 2018

1 reference

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Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins.

3 July 2018

1 reference

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

3 July 2018

1 reference

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Hearing requires otoferlin-dependent efficient replenishment of synaptic vesicles in hair cells

3 July 2018

1 reference

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Cell biology of Ca2+-triggered exocytosis

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

Arabidopsis synaptotagmin SYT1, a type I signal-anchor protein, requires tandem C2 domains for delivery to the plasma membrane

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

Membrane wounding triggers ATP release and dysferlin-mediated intercellular calcium signaling

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

Dysferlin interacts with tubulin and microtubules in mouse skeletal muscle

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

Dysferlin overexpression in skeletal muscle produces a progressive myopathy.

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

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

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

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

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

The Pfam protein families database

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

C. elegans dysferlin homolog fer-1 is expressed in muscle, and fer-1 mutations initiate altered gene expression of muscle enriched genes

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

Otoferlin is critical for a highly sensitive and linear calcium-dependent exocytosis at vestibular hair cell ribbon synapses

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

Myoferlin is critical for endocytosis in endothelial cells

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

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

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

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

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

While dysferlin and myoferlin are coexpressed in the human placenta, only dysferlin expression is responsive to trophoblast fusion in model systems

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

Direct interaction of otoferlin with syntaxin 1A, SNAP-25, and the L-type voltage-gated calcium channel Cav1.3.

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

Rab8b GTPase, a protein transport regulator, is an interacting partner of otoferlin, defective in a human autosomal recessive deafness form

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

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

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

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

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

Dysferlin domain-containing proteins, Pex30p and Pex31p, localized to two compartments, control the number and size of oleate-induced peroxisomes in Pichia pastoris

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

A missense mutation in the conserved C2B domain of otoferlin causes deafness in a new mouse model of DFNB9

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

Evolution of the eukaryotic membrane-trafficking system: origin, tempo and mode

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

Myoferlin regulates vascular endothelial growth factor receptor-2 stability and function

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

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

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

Dysferlin and muscle membrane repair.

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

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

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

Acrosomal exocytosis, a special type of regulated secretion

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

Complex regulation and multiple developmental functions of misfire, the Drosophila melanogaster ferlin gene

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

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

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

E-Syts, a family of membranous Ca2+-sensor proteins with multiple C2 domains

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

Differential expression of otoferlin in brain, vestibular system, immature and mature cochlea of the rat

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

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

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

The genome of the sea urchin Strongylocentrotus purpuratus

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

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

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

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

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

Normal myoblast fusion requires myoferlin

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

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

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

Ultrastructural changes in dysferlinopathy support defective membrane repair mechanism

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

Evolutionarily conserved multiple C2 domain proteins with two transmembrane regions (MCTPs) and unusual Ca2+ binding properties

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

Synaptotagmin gene content of the sequenced genomes

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

UniProt: the Universal Protein knowledgebase

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

Plasma Membrane Disruption: Repair, Prevention, Adaptation

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

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

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

Defective membrane repair in dysferlin-deficient muscular dystrophy

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

The endomembrane requirement for cell surface repair

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

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

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

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

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

The earliest pathologic alterations in dysferlinopathy

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9.

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

Myoferlin, a candidate gene and potential modifier of muscular dystrophy

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

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

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

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

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

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

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

SMART, a simple modular architecture research tool: identification of signaling domains

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

Crystal structure of a calcium-phospholipid binding domain from cytosolic phospholipase A2

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

Synaptotagmins: C2-domain proteins that regulate membrane traffic

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

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

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6010044

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

3 July 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0854.2011.01267.X

The Drosophila misfire gene has an essential role in sperm activation during fertilization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0854.2011.01267.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0854.2011.01267.X

Otoferlin interacts with myosin VI: implications for maintenance of the basolateral synaptic structure of the inner hair cell.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0854.2011.01267.X

Dysfunction of dysferlin-deficient hearts.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0854.2011.01267.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0854.2011.01267.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0854.2011.01267.X

Expression of Myoferlin in Skeletal Muscles of Patients with Dysferlinopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0854.2011.01267.X

Patching plasma membrane disruptions with cytoplasmic membrane.

21 January 2018

1 reference

12 December 2020

Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis

1 reference

12 December 2020

In silico functional and structural characterisation of ferlin proteins by mapping disease-causing mutations and evolutionary information onto three-dimensional models of their C2 domains

1 reference

12 December 2020

[A patient with limb girdle muscular dystrophy type 2B (LGMD2B) manifesting cardiomyopathy]

1 reference

12 December 2020

Growing muscle has different sarcolemmal properties from adult muscle: a proposal with scientific and clinical implications: reasons to reassess skeletal muscle molecular dynamics, cellular responses and suitability of experimental models of muscle

1 reference

12 December 2020

In vivo and in vitro dysferlin expression in human muscle satellite cells

1 reference

12 December 2020

Intracellular localization of dysferlin and its association with the dihydropyridine receptor

1 reference

12 December 2020

A nematode gene required for sperm vesicle fusion.

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1111/J.1600-0854.2011.01267.X

Identifiers

DOI

1 reference

30 June 2018

release_xeeiluhwdrdlnjiehk63uank6q

Fatcat ID

0 references

OpenCitations bibliographic resource ID

1723253

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

30 June 2018

PubMed publication ID

21838746

1 reference

30 June 2018