Lista de obras -

'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies

scientific article published on 05 January 2019

Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human

artículo científico publicado en 2012

An integrated diagnosis strategy for congenital myopathies.

artículo científico publicado en 2013

Caveolin 3 is associated with the calcium release complex and is modified via in vivo triadin modification

artículo científico publicado en 2010

Deletion of the microtubule-associated protein 6 (MAP6) results in skeletal muscle dysfunction

artículo científico publicado en 2018

Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy.

artículo científico publicado en 2013

Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe Syndrome.

artículo científico publicado en 2016

Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein.

artículo científico publicado en 2015

Maurocalcine and domain A of the II-III loop of the dihydropyridine receptor Cav 1.1 subunit share common binding sites on the skeletal ryanodine receptor.

artículo científico publicado en 2004

Modelling of the III-IV loop, a domain involved in calcium channel Ca(v)2.1 inactivation, highlights a structural homology with the gamma subunit of G proteins.

artículo científico publicado en 2002

On the mitogenic properties of Rap1b: cAMP-induced G(1)/S entry requires activated and phosphorylated Rap1b

artículo científico publicado en 2002

Retrograde regulation of store-operated calcium channels by the ryanodine receptor-associated protein triadin 95 in rat skeletal myotubes

artículo científico publicado en 2006

Role of triadin in the organization of reticulum membrane at the muscle triad

scientific journal article

Triadin (Trisk 95) overexpression blocks excitation-contraction coupling in rat skeletal myotubes

scientific journal article

Triadin deletion induces impaired skeletal muscle function

artículo científico publicado en 2009

Triadin: what possible function 20 years later?

artículo científico publicado en 2009

Triadins are not triad-specific proteins: two new skeletal muscle triadins possibly involved in the architecture of sarcoplasmic reticulum

artículo científico publicado en 2005

cAMP inhibition of Akt is mediated by activated and phosphorylated Rap1b

artículo científico publicado en 2002

cAMP-dependent oncogenic action of Rap1b in the thyroid gland

artículo científico publicado en 2004

Lista de obras de

'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies

Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human

An integrated diagnosis strategy for congenital myopathies.

Caveolin 3 is associated with the calcium release complex and is modified via in vivo triadin modification

Deletion of the microtubule-associated protein 6 (MAP6) results in skeletal muscle dysfunction

Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy.

Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe Syndrome.

Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein.

Maurocalcine and domain A of the II-III loop of the dihydropyridine receptor Cav 1.1 subunit share common binding sites on the skeletal ryanodine receptor.

Modelling of the III-IV loop, a domain involved in calcium channel Ca(v)2.1 inactivation, highlights a structural homology with the gamma subunit of G proteins.

On the mitogenic properties of Rap1b: cAMP-induced G(1)/S entry requires activated and phosphorylated Rap1b

Retrograde regulation of store-operated calcium channels by the ryanodine receptor-associated protein triadin 95 in rat skeletal myotubes

Role of triadin in the organization of reticulum membrane at the muscle triad

Triadin (Trisk 95) overexpression blocks excitation-contraction coupling in rat skeletal myotubes

Triadin deletion induces impaired skeletal muscle function

Triadin: what possible function 20 years later?

Triadins are not triad-specific proteins: two new skeletal muscle triadins possibly involved in the architecture of sarcoplasmic reticulum

cAMP inhibition of Akt is mediated by activated and phosphorylated Rap1b

cAMP-dependent oncogenic action of Rap1b in the thyroid gland