Lista de obras - Mathias Gautel - Dominio Público Uruguay

A conditional gating mechanism assures the integrity of the molecular force-sensor titin kinase.

artículo científico publicado en 2011

A molecular map of titin/connectin elasticity reveals two different mechanisms acting in series.

artículo científico publicado en 1996

A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance

artículo científico publicado en 2000

A regular pattern of two types of 100-residue motif in the sequence of titin

scientific journal article

A six-module human nebulin fragment bundles actin filaments and induces actin polymerization

artículo científico publicado el 1 de abril de 1998

A survey of in situ sarcomere extension in mouse skeletal muscle

artículo científico publicado en 1997

Actin-titin interaction in cardiac myofibrils: probing a physiological role ⬇️

artículo científico publicado el 1 de agosto de 1997

Artifact-free high-density localization microscopy analysis

scientific article published on 30 July 2018

Assembly of the cardiac I-band region of titin/connectin: expression of the cardiac-specific regions and their structural relation to the elastic segments

artículo científico publicado en 1996

Association of the chaperone alphaB-crystallin with titin in heart muscle.

artículo científico publicado en 2003

Autopsy findings in EPG5-related Vici syndrome with antenatal onset

artículo científico publicado en 2017

Binding of Myomesin to Obscurin-Like-1 at the Muscle M-Band Provides a Strategy for Isoform-Specific Mechanical Protection.

artículo científico publicado en 2016

Binding of myosin binding protein-C to myosin subfragment S2 affects contractility independent of a tether mechanism

artículo científico publicado en 2004

Binding partners of the kinase domains in Drosophila obscurin and their effect on the structure of the flight muscle.

artículo científico publicado en 2015

Calpain 1-titin interactions concentrate calpain 1 in the Z-band edges and in the N2-line region within the skeletal myofibril.

artículo científico publicado en 2005

Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy

artículo científico publicado en 1995

Clinical utility gene card for: Vici Syndrome.

artículo científico publicado en 2013

Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction.

scientific article published on 13 September 2016

Complete human gene structure of obscurin: implications for isoform generation by differential splicing.

artículo científico publicado en 2005

Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction

artículo científico publicado en 2018

Constitutive and variable regions of Z-disk titin/connectin in myofibril formation: a dominant-negative screen

artículo científico publicado en 1997

Crystal structures of human cardiac beta-myosin II S2-Delta provide insight into the functional role of the S2 subfragment.

artículo científico publicado en 2006

Current and future therapeutic approaches to the congenital myopathies.

artículo científico publicado en 2016

Cytoskeletal protein kinases: titin and its relations in mechanosensing ⬇️

artículo científico publicado el 18 de marzo de 2011

Developmental regulation of MURF ubiquitin ligases and autophagy proteins nbr1, p62/SQSTM1 and LC3 during cardiac myofibril assembly and turnover.

artículo científico publicado en 2010

Diggin' on u(biquitin): a novel method for the identification of physiological E3 ubiquitin ligase substrates.

artículo científico publicado en 2013

Dissecting the N-terminal myosin binding site of human cardiac myosin-binding protein C. Structure and myosin binding of domain C2

artículo científico publicado en 2007

Distinct sarcomeric substrates are responsible for protein kinase D-mediated regulation of cardiac myofilament Ca2+ sensitivity and cross-bridge cycling ⬇️

artículo científico publicado en 2010

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

artículo científico publicado en 2016

Epigenetic changes as a common trigger of muscle weakness in congenital myopathies

artículo científico publicado en 2015

Evidence for a dimeric assembly of two titin/telethonin complexes induced by the telethonin C-terminus

artículo científico publicado en 2006

From A to Z and back? Multicompartment proteins in the sarcomere.

artículo científico publicado en 2005

Guidelines for the use and interpretation of assays for monitoring autophagy

artículo científico publicado en 2012

Immunoglobulin-type domains of titin are stabilized by amino-terminal extension

artículo científico publicado en 1994

Immunoglobulin-type domains of titin: same fold, different stability?

artículo científico publicado en 1994

Increasing evidence of mechanical force as a functional regulator in smooth muscle myosin light chain kinase

artículo científico publicado en 2017

Interaction between PEVK-titin and actin filaments: origin of a viscous force component in cardiac myofibrils

artículo científico publicado en 2001

Interactions with LC3 and polyubiquitin chains link nbr1 to autophagic protein turnover

artículo científico publicado en 2009

Interactions with titin and myomesin target obscurin and obscurin-like 1 to the M-band: implications for hereditary myopathies.

artículo científico publicado en 2008

Introducing a series of topical special issues of the Journal of Muscle Research and Cell Motility: MYBPC3 special issue editorial

artículo científico publicado en 2012

Introducing a special edition of the Journal of Muscle Research and Cell Motility on tropomyosin: form and function

artículo científico publicado en 2013

Isoform Transitions of the Myosin Binding Protein C Family in Developing Human and Mouse Muscles

artículo científico publicado en 1998

Kinase recognition by calmodulin: modeling the interaction with the autoinhibitory region of human cardiac titin kinase

scientific article published on 01 February 2001

Kinetics of interaction of HIV reverse transcriptase with primer/template

article

Legumain and cathepsin-L expression in human unstable carotid plaque.

artículo científico publicado en 2009

Mechanoenzymatics of titin kinase

artículo científico publicado en 2008

Molecular structure of the sarcomeric M band: mapping of titin and myosin binding domains in myomesin and the identification of a potential regulatory phosphorylation site in myomesin.

artículo científico publicado en 1997

Molecular structure of the sarcomeric Z-disk: two types of titin interactions lead to an asymmetrical sorting of alpha-actinin.

artículo científico publicado en 1998

MuRF1 activity is present in cardiac mitochondria and regulates reactive oxygen species production in vivo

artículo científico publicado en 2014

Myofibrillar tightly bound calcium in skeletal muscle fibers: a possible role of this cation in titin strands aggregation

scientific article published on 01 January 2004

Myosin Binding Protein C Positioned to Play a Key Role in Regulation of Muscle Contraction: Structure and Interactions of Domain C1

artículo científico publicado en 2008

Myosin binding protein-C activates thin filaments and inhibits thick filaments in heart muscle cells

artículo científico publicado en 2014

Novel splice donor site mutation in the cardiac myosin-binding protein-C gene in familial hypertrophic cardiomyopathy. Characterization Of cardiac transcript and protein ⬇️

artículo científico publicado el 15 de julio de 1997

Obscurin, a giant sarcomeric Rho guanine nucleotide exchange factor protein involved in sarcomere assembly

artículo científico publicado en 2001

PEVK Domain of Titin: An Entropic Spring with Actin-Binding Properties

article

Palindromic assembly of the giant muscle protein titin in the sarcomeric Z-disk

artículo científico publicado en 2006

Paraneoplastic myasthenia gravis: detection of anti-MGT30 (titin) antibodies predicts thymic epithelial tumor

artículo científico publicado en 1997

Pathogenic mechanisms in centronuclear myopathies

artículo científico publicado en 2014

Phosphoregulation of the titin-cap protein telethonin in cardiac myocytes

artículo científico publicado en 2014

Preferential skeletal muscle myosin loss in response to mechanical silencing in a novel rat intensive care unit model: underlying mechanisms

scientific article published on 14 February 2011

Protein kinase D is a novel mediator of cardiac troponin I phosphorylation and regulates myofilament function

artículo científico publicado en 2004

Recessive TTN truncating mutations define novel forms of core myopathy with heart disease

scientific article published on 08 October 2013

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.

artículo científico publicado en 2012

Reply: Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome

artículo científico publicado en 2016

Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain

artículo científico publicado en 2014

Reversible unfolding of individual titin immunoglobulin domains by AFM

scientific article published on 01 May 1997

Rigid conformation of an immunoglobulin domain tandem repeat in the A-band of the elastic muscle protein titin

artículo científico publicado en 2007

Secondary structure determination by NMR spectroscopy of an immunoglobulin-like domain from the giant muscle protein titin ⬇️

artículo científico publicado el 1 de julio de 1995

Sequence specific assignment of domain C1 of the N-terminal myosin-binding site of human cardiac myosin binding protein C (MyBP-C).

artículo científico publicado en 2004

Sequence specific resonance assignment of the central domain of cardiac myosin binding protein C (MyBP-C)

artículo científico publicado en 2002

Solution NMR assignment of the heavy chain complex of the human cardiac myosin regulatory light chain

artículo científico publicado en 2014

Solution scattering suggests cross-linking function of telethonin in the complex with titin

artículo científico publicado en 2003

Structural basis for activation of the titin kinase domain during myofibrillogenesis

artículo científico publicado en 1998

Structural insight into M-band assembly and mechanics from the titin-obscurin-like-1 complex

artículo científico publicado en 2010

Structure and interactions of myosin-binding protein C domain C0: cardiac-specific regulation of myosin at its neck?

artículo científico publicado en 2011

Structure, interactions and function of the N-terminus of cardiac myosin binding protein C (MyBP-C): who does what, with what, and to whom?

artículo científico

Structure, stability and dynamics of the central domain of cardiac myosin binding protein C (MyBP-C): implications for multidomain assembly and causes for cardiomyopathy

artículo científico publicado en 2003

Sub-diffraction error mapping for localisation microscopy images

scientific article published on 23 September 2021

TITINdb-a computational tool to assess titin's role as a disease gene

artículo científico publicado en 2017

Targeted homozygous deletion of M-band titin in cardiomyocytes prevents sarcomere formation

artículo científico publicado en 2006

The anatomy of a molecular giant: how the sarcomere cytoskeleton is assembled from immunoglobulin superfamily molecules.

artículo científico publicado en 1995

The assembly of immunoglobulin-like modules in titin: implications for muscle elasticity

artículo científico publicado en 1998

The crystal structure of the actin binding domain from alpha-actinin in its closed conformation: structural insight into phospholipid regulation of alpha-actinin.

artículo científico publicado en 2005

The crystal structure of the human titin:obscurin complex reveals a conserved yet specific muscle M-band zipper module

artículo científico publicado en 2015

The elasticity of single titin molecules using a two-bead optical tweezers assay.

artículo científico publicado en 2004

The evolution of titin and related giant muscle proteins

artículo científico publicado en 1994

The kinase domain of titin controls muscle gene expression and protein turnover

artículo científico publicado en 2005

The mechanical stability of immunoglobulin and fibronectin III domains in the muscle protein titin measured by atomic force microscopy

artículo científico publicado en 1998

The primary structure of sensory rhodopsin II: a member of an additional retinal protein subgroup is coexpressed with its transducer, the halobacterial transducer of rhodopsin II

artículo científico publicado en 1995

The sarcomere and sarcomerogenesis.

artículo científico publicado en 2008

The sarcomeric cytoskeleton: from molecules to motion

artículo científico publicado en 2016

The spectrin repeat: a structural platform for cytoskeletal protein assemblies

artículo científico publicado en 2002

The structure and regulation of human muscle α-actinin

artículo científico publicado en 2014

The structure of the sarcomeric M band: localization of defined domains of myomesin, M-protein, and the 250-kD carboxy-terminal region of titin by immunoelectron microscopy.

artículo científico publicado en 1996

Titin domain patterns correlate with the axial disposition of myosin at the end of the thick filament.

artículo científico publicado en 1996

Titin ruler hypothesis not refuted.

artículo científico publicado en 2015

Transcriptional mechanisms regulating skeletal muscle differentiation, growth and homeostasis.

artículo científico publicado en 2011

Vici syndrome: a review

artículo científico publicado en 2016

cAPK-phosphorylation controls the interaction of the regulatory domain of cardiac myosin binding protein C with myosin-S2 in an on-off fashion

artículo científico publicado en 1999

Lista de obras de Mathias Gautel

A conditional gating mechanism assures the integrity of the molecular force-sensor titin kinase.

A molecular map of titin/connectin elasticity reveals two different mechanisms acting in series.

A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance

A regular pattern of two types of 100-residue motif in the sequence of titin

A six-module human nebulin fragment bundles actin filaments and induces actin polymerization

A survey of in situ sarcomere extension in mouse skeletal muscle

Actin-titin interaction in cardiac myofibrils: probing a physiological role ⬇️

Artifact-free high-density localization microscopy analysis

Assembly of the cardiac I-band region of titin/connectin: expression of the cardiac-specific regions and their structural relation to the elastic segments

Association of the chaperone alphaB-crystallin with titin in heart muscle.

Autopsy findings in EPG5-related Vici syndrome with antenatal onset

Binding of Myomesin to Obscurin-Like-1 at the Muscle M-Band Provides a Strategy for Isoform-Specific Mechanical Protection.

Binding of myosin binding protein-C to myosin subfragment S2 affects contractility independent of a tether mechanism

Binding partners of the kinase domains in Drosophila obscurin and their effect on the structure of the flight muscle.

Calpain 1-titin interactions concentrate calpain 1 in the Z-band edges and in the N2-line region within the skeletal myofibril.

Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy

Clinical utility gene card for: Vici Syndrome.

Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction.

Complete human gene structure of obscurin: implications for isoform generation by differential splicing.

Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction

Constitutive and variable regions of Z-disk titin/connectin in myofibril formation: a dominant-negative screen

Crystal structures of human cardiac beta-myosin II S2-Delta provide insight into the functional role of the S2 subfragment.

Current and future therapeutic approaches to the congenital myopathies.

Cytoskeletal protein kinases: titin and its relations in mechanosensing ⬇️

Developmental regulation of MURF ubiquitin ligases and autophagy proteins nbr1, p62/SQSTM1 and LC3 during cardiac myofibril assembly and turnover.

Diggin' on u(biquitin): a novel method for the identification of physiological E3 ubiquitin ligase substrates.

Dissecting the N-terminal myosin binding site of human cardiac myosin-binding protein C. Structure and myosin binding of domain C2

Distinct sarcomeric substrates are responsible for protein kinase D-mediated regulation of cardiac myofilament Ca2+ sensitivity and cross-bridge cycling ⬇️

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

Epigenetic changes as a common trigger of muscle weakness in congenital myopathies

Evidence for a dimeric assembly of two titin/telethonin complexes induced by the telethonin C-terminus

From A to Z and back? Multicompartment proteins in the sarcomere.

Guidelines for the use and interpretation of assays for monitoring autophagy

Immunoglobulin-type domains of titin are stabilized by amino-terminal extension

Immunoglobulin-type domains of titin: same fold, different stability?

Increasing evidence of mechanical force as a functional regulator in smooth muscle myosin light chain kinase

Interaction between PEVK-titin and actin filaments: origin of a viscous force component in cardiac myofibrils

Interactions with LC3 and polyubiquitin chains link nbr1 to autophagic protein turnover

Interactions with titin and myomesin target obscurin and obscurin-like 1 to the M-band: implications for hereditary myopathies.

Introducing a series of topical special issues of the Journal of Muscle Research and Cell Motility: MYBPC3 special issue editorial

Introducing a special edition of the Journal of Muscle Research and Cell Motility on tropomyosin: form and function

Isoform Transitions of the Myosin Binding Protein C Family in Developing Human and Mouse Muscles

Kinase recognition by calmodulin: modeling the interaction with the autoinhibitory region of human cardiac titin kinase

Kinetics of interaction of HIV reverse transcriptase with primer/template

Legumain and cathepsin-L expression in human unstable carotid plaque.

Mechanoenzymatics of titin kinase

Molecular structure of the sarcomeric M band: mapping of titin and myosin binding domains in myomesin and the identification of a potential regulatory phosphorylation site in myomesin.

Molecular structure of the sarcomeric Z-disk: two types of titin interactions lead to an asymmetrical sorting of alpha-actinin.

MuRF1 activity is present in cardiac mitochondria and regulates reactive oxygen species production in vivo

Myofibrillar tightly bound calcium in skeletal muscle fibers: a possible role of this cation in titin strands aggregation

Myosin Binding Protein C Positioned to Play a Key Role in Regulation of Muscle Contraction: Structure and Interactions of Domain C1

Myosin binding protein-C activates thin filaments and inhibits thick filaments in heart muscle cells

Novel splice donor site mutation in the cardiac myosin-binding protein-C gene in familial hypertrophic cardiomyopathy. Characterization Of cardiac transcript and protein ⬇️

Obscurin, a giant sarcomeric Rho guanine nucleotide exchange factor protein involved in sarcomere assembly

PEVK Domain of Titin: An Entropic Spring with Actin-Binding Properties

Palindromic assembly of the giant muscle protein titin in the sarcomeric Z-disk

Paraneoplastic myasthenia gravis: detection of anti-MGT30 (titin) antibodies predicts thymic epithelial tumor

Pathogenic mechanisms in centronuclear myopathies

Phosphoregulation of the titin-cap protein telethonin in cardiac myocytes

Preferential skeletal muscle myosin loss in response to mechanical silencing in a novel rat intensive care unit model: underlying mechanisms

Protein kinase D is a novel mediator of cardiac troponin I phosphorylation and regulates myofilament function

Recessive TTN truncating mutations define novel forms of core myopathy with heart disease

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.

Reply: Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome

Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain

Reversible unfolding of individual titin immunoglobulin domains by AFM

Rigid conformation of an immunoglobulin domain tandem repeat in the A-band of the elastic muscle protein titin

Secondary structure determination by NMR spectroscopy of an immunoglobulin-like domain from the giant muscle protein titin ⬇️

Sequence specific assignment of domain C1 of the N-terminal myosin-binding site of human cardiac myosin binding protein C (MyBP-C).

Sequence specific resonance assignment of the central domain of cardiac myosin binding protein C (MyBP-C)

Solution NMR assignment of the heavy chain complex of the human cardiac myosin regulatory light chain

Solution scattering suggests cross-linking function of telethonin in the complex with titin

Structural basis for activation of the titin kinase domain during myofibrillogenesis

Structural insight into M-band assembly and mechanics from the titin-obscurin-like-1 complex

Structure and interactions of myosin-binding protein C domain C0: cardiac-specific regulation of myosin at its neck?

Structure, interactions and function of the N-terminus of cardiac myosin binding protein C (MyBP-C): who does what, with what, and to whom?

Structure, stability and dynamics of the central domain of cardiac myosin binding protein C (MyBP-C): implications for multidomain assembly and causes for cardiomyopathy

Sub-diffraction error mapping for localisation microscopy images

TITINdb-a computational tool to assess titin's role as a disease gene