List of works - Susan Treves

A possible role of the junctional face protein JP-45 in modulating Ca2+ release in skeletal muscle.

scientific article published on 19 January 2006

A ryanodine receptor-like Ca2+ channel is expressed in nonexcitable cells.

scientific article published on January 1995

Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies

scientific article published on 01 April 2019

Agrin regulates CLASP2-mediated capture of microtubules at the neuromuscular junction synaptic membrane.

scientific article

Amino acid residues 4425-4621 localized on the three-dimensional structure of the skeletal muscle ryanodine receptor

scientific article

An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities.

scientific article published on 5 July 2016

Apoptosis is dependent on intracellular zinc and independent of intracellular calcium in lymphocytes

scientific article published on 01 April 1994

Atypical periodic paralysis and myalgia: A novel RYR1 phenotype

scientific article published on 3 January 2018

B-lymphocytes from malignant hyperthermia-susceptible patients have an increased sensitivity to skeletal muscle ryanodine receptor activators.

scientific article

Bi-allelic expression of the RyR1 p.A4329D mutation decreases muscle strength in slow- twitch muscles in mice

scientific article published on 04 June 2020

Ca2+ handling abnormalities in early-onset muscle diseases: Novel concepts and perspectives.

scientific article published on 14 July 2016

Ca2+ signaling through ryanodine receptor 1 enhances maturation and activation of human dendritic cells

scientific article published on 13 June 2007

Calcium dependent activation of skeletal muscle Ca2+ release channel (ryanodine receptor) by calmodulin

scientific article published on 01 August 1995

Calmodulin binding sites of the skeletal, cardiac, and brain ryanodine receptor Ca2+ channels: modulation by the catalytic subunit of cAMP-dependent protein kinase?

scientific article published on 01 April 1995

Calumin, a novel Ca2+-binding transmembrane protein on the endoplasmic reticulum

scientific journal article

Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations.

scientific article published on 22 December 2016

Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene

article

Characterization of excitation-contraction coupling components in human extraocular muscles

scientific article published in February 2015

Characterization of the inflammatory cells in progressing tumor-like alveolar hydatid cyst. 2. Cell surface receptors, endocytosed immune complexes and lysosomal enzyme content.

scientific article published in December 1984

Characterization of the inflammatory cells in progressing tumor-like alveolar hydatid cysts: 1. Kinetics and composition of inflammatory infiltrates

scientific article published on 01 September 1984

Chlorocresol, an additive to commercial succinylcholine, induces contracture of human malignant hyperthermia-susceptible muscles via activation of the ryanodine receptor Ca2+ channel.

scientific article published in June 1996

Chlorocresol: an activator of ryanodine receptor-mediated Ca2+ release

scientific article published on 01 December 1993

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

scientific article published on 2 February 2018

Current and future therapeutic approaches to the congenital myopathies.

scientific article published on 8 August 2016

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

scientific article published on 23 December 2016

Effect of cytochalasins on cytosolic-free calcium concentration and phosphoinositide metabolism in leukocytes

scientific article published on 01 February 1987

Enhanced excitation-coupled Ca(2+) entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease.

scientific article

Establishment of a human skeletal muscle-derived cell line: biochemical, cellular and electrophysiological characterization.

scientific article published on October 2013

Extraocular muscle function is impaired in ryr3 -/- mice

scientific article published on 13 May 2019

Frequent calcium oscillations lead to NFAT activation in human immature dendritic cells

scientific article

Functional characterization of orbicularis oculi and extraocular muscles

scientific article published on 11 April 2016

Functional characterization of the RYR1 mutation p.Arg4737Trp associated with susceptibility to malignant hyperthermia

scientific article published on 11 November 2015

Functional properties of EGFP-tagged skeletal muscle calcium-release channel (ryanodine receptor) expressed in COS-7 cells: sensitivity to caffeine and 4-chloro-m-cresol.

scientific article

Functional properties of RYR1 mutations identified in Swedish patients with malignant hyperthermia and central core disease.

scientific article

Gain of function in the immune system caused by a ryanodine receptor 1 mutation.

scientific article published on 23 May 2013

Genotype-phenotype comparison of the Swiss malignant hyperthermia population.

scientific article published in October 2001

Granular and globular acid alpha-naphthyl-acetate-esterase staining pattern of resting and mitogen-activated murine lymphocytes

scientific article published on 01 January 1983

Identification and characterization of a calreticulin-binding nuclear protein as histone (H1), an autoantigen in systemic lupus erythematosus.

scientific article published in January 1998

Identification and characterization of three calmodulin binding sites of the skeletal muscle ryanodine receptor

scientific article published on 01 August 1994

Identification of calreticulin isoforms in the central nervous system ⬇️

scientific article published on October 15, 1992

Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis

scientific article

Identification of the domain recognized by anti-(ryanodine receptor) antibodies which affect Ca2+-induced Ca2+ release ⬇️

scientific article published on May 1, 1993

Increased Ca2+ storage capacity of the skeletal muscle sarcoplasmic reticulum of transgenic mice over-expressing membrane bound calcium binding protein junctate

scientific article published on 01 November 2007

Increasing the number of diagnostic mutations in malignant hyperthermia.

scientific article

Interaction of S100A1 with the Ca2+ release channel (ryanodine receptor) of skeletal muscle

scientific article

Intracellular calcium homeostasis in human primary muscle cells from malignant hyperthermia-susceptible and normal individuals. Effect Of overexpression of recombinant wild-type and Arg163Cys mutated ryanodine receptors.

scientific article published on March 1998

JP-45/JSRP1 variants affect skeletal muscle excitation-contraction coupling by decreasing the sensitivity of the dihydropyridine receptor

scientific article

Junctate is a key element in calcium entry induced by activation of InsP3 receptors and/or calcium store depletion

scientific article

Junctate, an inositol 1,4,5-triphosphate receptor associated protein, is present in rodent sperm and binds TRPC2 and TRPC5 but not TRPC1 channels.

scientific article

Loss of skeletal muscle strength by ablation of the sarcoplasmic reticulum protein JP45

scholarly article

Malignant hyperthermia domain in the regulation of ca(2+) release channel (ryanodine receptor).

scientific article

Molecular cloning, expression, functional characterization, chromosomal localization, and gene structure of junctate, a novel integral calcium binding protein of sarco(endo)plasmic reticulum membrane

scientific article

Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene.

scientific article

Multiple levels of control of the expression of the human A beta H-J-J locus encoding aspartyl-beta-hydroxylase, junctin, and junctate

scientific article published on December 2006

Myocyte enhancer factor 2 activates promoter sequences of the human AbetaH-J-J locus, encoding aspartyl-beta-hydroxylase, junctin, and junctate

scientific article

Nerve growth factor (NGF) influences differentiation and proliferation of myogenic cells in vitro via TrKA.

scientific article

Novel sarco(endo)plasmic reticulum proteins and calcium homeostasis in striated muscles.

scientific article

Over-expression of a retinol dehydrogenase (SRP35/DHRS7C) in skeletal muscle activates mTORC2, enhances glucose metabolism and muscle performance

scientific article published on 12 January 2018

Phenotyping malignant hyperthermia susceptibility by measuring halothane-induced changes in myoplasmic calcium concentration in cultured human skeletal muscle cells.

scientific article published on October 2002

Purification of calreticulin-like protein(s) from spinach leaves

scientific article published on 01 February 1993

Quantitative RyR1 reduction and loss of calcium sensitivity of RyR1Q1970fsX16+A4329D cause cores and loss of muscle strength

scientific article published on 01 September 2019

Quantitative reduction of RyR1 protein caused by a single-allele frameshift mutation in RYR1 ex36 impairs the strength of adult skeletal muscle fibres

scientific article published on 01 June 2019

Raptor ablation in skeletal muscle decreases Cav1.1 expression and affects the function of the excitation-contraction coupling supramolecular complex

scientific article published on February 2015

Remodeling of calcium handling in skeletal muscle through PGC-1α: impact on force, fatigability, and fiber type

scientific article (publication date: 2012)

Role of malignant hyperthermia domain in the regulation of Ca2+ release channel (ryanodine receptor) of skeletal muscle sarcoplasmic reticulum

scientific article published on 01 September 1996

Role of the JP45-Calsequestrin Complex on Calcium Entry in Slow Twitch Skeletal Muscles.

scientific article published on 4 May 2016

Role of the JP45-calsequestrin complex on calcium entry in slow twitch skeletal muscles

scientific article published on September 2016

Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders.

scientific article

SRP-27 is a novel component of the supramolecular signalling complex involved in skeletal muscle excitation-contraction coupling.

scientific article

SRP-35, a newly identified protein of the skeletal muscle sarcoplasmic reticulum, is a retinol dehydrogenase

scientific journal article

STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility

scientific article published on 11 October 2018

STIM1 over-activation generates a multi-systemic phenotype affecting the skeletal muscle, spleen, eye, skin, bones and immune system in mice

scientific article published on 01 May 2019

Screening of the ryanodine 1 gene for malignant hyperthermia causative mutations by high resolution melt curve analysis

scientific article published on 30 September 2011

Sequence homology of a canine brain calcium-binding protein with calregulin and the human Ro/SS-A antigen

scientific article published on 01 October 1989

The junctional SR protein JP-45 affects the functional expression of the voltage-dependent Ca2+ channel Cav1.1

scientific journal article

The metabolomic profile of gamma-irradiated human hepatoma and muscle cells reveals metabolic changes consistent with the Warburg effect.

scientific article published on 26 January 2016

The novel skeletal muscle sarcoplasmic reticulum JP-45 protein. Molecular cloning, tissue distribution, developmental expression, and interaction with alpha 1.1 subunit of the voltage-gated calcium channel

scientific journal article

Transcriptional activity and Sp 1/3 transcription factor binding to the P1 promoter sequences of the human AbetaH-J-J locus

scientific article published on 06 August 2007

Two central core disease (CCD) deletions in the C-terminal region of RYR1 alter muscle excitation-contraction (EC) coupling by distinct mechanisms.

scientific article published in January 2007

Upstream stimulatory factors are involved in the P1 promoter directed transcription of the A beta H-J-J locus

scientific article

List of works by Susan Treves

A possible role of the junctional face protein JP-45 in modulating Ca2+ release in skeletal muscle.

A ryanodine receptor-like Ca2+ channel is expressed in nonexcitable cells.

Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies

Agrin regulates CLASP2-mediated capture of microtubules at the neuromuscular junction synaptic membrane.

Amino acid residues 4425-4621 localized on the three-dimensional structure of the skeletal muscle ryanodine receptor

An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities.

Apoptosis is dependent on intracellular zinc and independent of intracellular calcium in lymphocytes

Atypical periodic paralysis and myalgia: A novel RYR1 phenotype

B-lymphocytes from malignant hyperthermia-susceptible patients have an increased sensitivity to skeletal muscle ryanodine receptor activators.

Bi-allelic expression of the RyR1 p.A4329D mutation decreases muscle strength in slow- twitch muscles in mice

Ca2+ handling abnormalities in early-onset muscle diseases: Novel concepts and perspectives.

Ca2+ signaling through ryanodine receptor 1 enhances maturation and activation of human dendritic cells

Calcium dependent activation of skeletal muscle Ca2+ release channel (ryanodine receptor) by calmodulin

Calmodulin binding sites of the skeletal, cardiac, and brain ryanodine receptor Ca2+ channels: modulation by the catalytic subunit of cAMP-dependent protein kinase?

Calumin, a novel Ca2+-binding transmembrane protein on the endoplasmic reticulum

Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations.

Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene

Characterization of excitation-contraction coupling components in human extraocular muscles

Characterization of the inflammatory cells in progressing tumor-like alveolar hydatid cyst. 2. Cell surface receptors, endocytosed immune complexes and lysosomal enzyme content.

Characterization of the inflammatory cells in progressing tumor-like alveolar hydatid cysts: 1. Kinetics and composition of inflammatory infiltrates

Chlorocresol, an additive to commercial succinylcholine, induces contracture of human malignant hyperthermia-susceptible muscles via activation of the ryanodine receptor Ca2+ channel.

Chlorocresol: an activator of ryanodine receptor-mediated Ca2+ release

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

Current and future therapeutic approaches to the congenital myopathies.

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

Effect of cytochalasins on cytosolic-free calcium concentration and phosphoinositide metabolism in leukocytes

Enhanced excitation-coupled Ca(2+) entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease.

Establishment of a human skeletal muscle-derived cell line: biochemical, cellular and electrophysiological characterization.

Extraocular muscle function is impaired in ryr3 -/- mice

Frequent calcium oscillations lead to NFAT activation in human immature dendritic cells

Functional characterization of orbicularis oculi and extraocular muscles

Functional characterization of the RYR1 mutation p.Arg4737Trp associated with susceptibility to malignant hyperthermia

Functional properties of EGFP-tagged skeletal muscle calcium-release channel (ryanodine receptor) expressed in COS-7 cells: sensitivity to caffeine and 4-chloro-m-cresol.

Functional properties of RYR1 mutations identified in Swedish patients with malignant hyperthermia and central core disease.

Gain of function in the immune system caused by a ryanodine receptor 1 mutation.

Genotype-phenotype comparison of the Swiss malignant hyperthermia population.

Granular and globular acid alpha-naphthyl-acetate-esterase staining pattern of resting and mitogen-activated murine lymphocytes

Identification and characterization of a calreticulin-binding nuclear protein as histone (H1), an autoantigen in systemic lupus erythematosus.

Identification and characterization of three calmodulin binding sites of the skeletal muscle ryanodine receptor

Identification of calreticulin isoforms in the central nervous system ⬇️

Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis

Identification of the domain recognized by anti-(ryanodine receptor) antibodies which affect Ca2+-induced Ca2+ release ⬇️

Increased Ca2+ storage capacity of the skeletal muscle sarcoplasmic reticulum of transgenic mice over-expressing membrane bound calcium binding protein junctate

Increasing the number of diagnostic mutations in malignant hyperthermia.

Interaction of S100A1 with the Ca2+ release channel (ryanodine receptor) of skeletal muscle

Intracellular calcium homeostasis in human primary muscle cells from malignant hyperthermia-susceptible and normal individuals. Effect Of overexpression of recombinant wild-type and Arg163Cys mutated ryanodine receptors.

JP-45/JSRP1 variants affect skeletal muscle excitation-contraction coupling by decreasing the sensitivity of the dihydropyridine receptor

Junctate is a key element in calcium entry induced by activation of InsP3 receptors and/or calcium store depletion

Junctate, an inositol 1,4,5-triphosphate receptor associated protein, is present in rodent sperm and binds TRPC2 and TRPC5 but not TRPC1 channels.

Loss of skeletal muscle strength by ablation of the sarcoplasmic reticulum protein JP45

Malignant hyperthermia domain in the regulation of ca(2+) release channel (ryanodine receptor).

Molecular cloning, expression, functional characterization, chromosomal localization, and gene structure of junctate, a novel integral calcium binding protein of sarco(endo)plasmic reticulum membrane

Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene.

Multiple levels of control of the expression of the human A beta H-J-J locus encoding aspartyl-beta-hydroxylase, junctin, and junctate

Myocyte enhancer factor 2 activates promoter sequences of the human AbetaH-J-J locus, encoding aspartyl-beta-hydroxylase, junctin, and junctate

Nerve growth factor (NGF) influences differentiation and proliferation of myogenic cells in vitro via TrKA.

Novel sarco(endo)plasmic reticulum proteins and calcium homeostasis in striated muscles.

Over-expression of a retinol dehydrogenase (SRP35/DHRS7C) in skeletal muscle activates mTORC2, enhances glucose metabolism and muscle performance

Phenotyping malignant hyperthermia susceptibility by measuring halothane-induced changes in myoplasmic calcium concentration in cultured human skeletal muscle cells.

Purification of calreticulin-like protein(s) from spinach leaves

Quantitative RyR1 reduction and loss of calcium sensitivity of RyR1Q1970fsX16+A4329D cause cores and loss of muscle strength

Quantitative reduction of RyR1 protein caused by a single-allele frameshift mutation in RYR1 ex36 impairs the strength of adult skeletal muscle fibres

Raptor ablation in skeletal muscle decreases Cav1.1 expression and affects the function of the excitation-contraction coupling supramolecular complex

Remodeling of calcium handling in skeletal muscle through PGC-1α: impact on force, fatigability, and fiber type

Role of malignant hyperthermia domain in the regulation of Ca2+ release channel (ryanodine receptor) of skeletal muscle sarcoplasmic reticulum

Role of the JP45-Calsequestrin Complex on Calcium Entry in Slow Twitch Skeletal Muscles.

Role of the JP45-calsequestrin complex on calcium entry in slow twitch skeletal muscles

Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders.

SRP-27 is a novel component of the supramolecular signalling complex involved in skeletal muscle excitation-contraction coupling.

SRP-35, a newly identified protein of the skeletal muscle sarcoplasmic reticulum, is a retinol dehydrogenase

STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility

STIM1 over-activation generates a multi-systemic phenotype affecting the skeletal muscle, spleen, eye, skin, bones and immune system in mice

Screening of the ryanodine 1 gene for malignant hyperthermia causative mutations by high resolution melt curve analysis

Sequence homology of a canine brain calcium-binding protein with calregulin and the human Ro/SS-A antigen

The junctional SR protein JP-45 affects the functional expression of the voltage-dependent Ca2+ channel Cav1.1

The metabolomic profile of gamma-irradiated human hepatoma and muscle cells reveals metabolic changes consistent with the Warburg effect.

The novel skeletal muscle sarcoplasmic reticulum JP-45 protein. Molecular cloning, tissue distribution, developmental expression, and interaction with alpha 1.1 subunit of the voltage-gated calcium channel

Transcriptional activity and Sp 1/3 transcription factor binding to the P1 promoter sequences of the human AbetaH-J-J locus

Two central core disease (CCD) deletions in the C-terminal region of RYR1 alter muscle excitation-contraction (EC) coupling by distinct mechanisms.