Translational research and therapeutic perspectives in dysferlinopathies. - Test2 - elhamkhani - TriplyDB

Translational research and therapeutic perspectives in dysferlinopathies.

Translational research and therapeutic perspectives in dysferlinopathies.

http://www.wikidata.org/entity/Q37873747

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Limb-girdle muscular dystrophies: where next after six decades from the first proposal (Review).Sporadic inclusion body myositis: the genetic contributions to the pathogenesis.Inhibition of inflammation with celastrol fails to improve muscle function in dysferlin-deficient A/J mice The Classification, Natural History and Treatment of the Limb Girdle Muscular Dystrophies Exon skipping for nonsense mutations in Duchenne muscular dystrophy: too many mutations, too few patients?Dysferlin-deficient muscular dystrophy and innate immune activation.Amyloid deposits and inflammatory infiltrates in sporadic inclusion body myositis: the inflammatory egg comes before the degenerative chicken.Human artificial chromosomes for Duchenne muscular dystrophy and beyond: challenges and hopes.Systemic Delivery of Dysferlin Overlap Vectors Provides Long-Term Gene Expression and Functional Improvement for Dysferlinopathy.Toward an objective measure of functional disability in dysferlinopathy.Dysferlin deficiency confers increased susceptibility to coxsackievirus-induced cardiomyopathy.A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides.Dysferlin is a newly identified binding partner of AβPP and it co-aggregates with amyloid-β42 within sporadic inclusion-body myositis (s-IBM) muscle fibers.Treatment with Recombinant Human MG53 Protein Increases Membrane Integrity in a Mouse Model of Limb Girdle Muscular Dystrophy 2B.Cell Membrane Repair Assay Using a Two-photon Laser Microscope.

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Translational research and therapeutic perspectives in dysferlinopathies.

http://www.wikidata.org/entity/Q37873747

description

article científic

@ca

article scientifique

@fr

articolo scientifico

@it

artigo científico

@pt

bilimsel makale

@tr

scientific article published on 06 May 2011

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

Translational research and therapeutic perspectives in dysferlinopathies.

@en

Translational research and therapeutic perspectives in dysferlinopathies.

@nl

type

label

Translational research and therapeutic perspectives in dysferlinopathies.

@en

Translational research and therapeutic perspectives in dysferlinopathies.

@nl

prefLabel

Translational research and therapeutic perspectives in dysferlinopathies.

@en

Translational research and therapeutic perspectives in dysferlinopathies.

@nl

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MOLMED.2011.00084

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Molecular Medicine

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Translational research and therapeutic perspectives in dysferlinopathies

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Marc Bartoli

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Martin Krahn

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Nicolas Wein

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P2860

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

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

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

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

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

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

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

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

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

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

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molmed.2011.00084

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875-882

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10.2119/MOLMED.2011.00084

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Florian Barthélémy

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