نتائج البحث - "Treves, A."

1

دورية أكاديمية

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

المؤلفون: Elbaz, Moran, Ruiz, Alexis, Nicolay, Sven, Tupini, Chiara, Bachmann, Christoph, Eckhardt, Jan, Benucci, Sofia, Pelczar, Pawel, Treves, Susan, Zorzato, Francesco

المساهمون: Swiss National Science Foundation, Swiss Muscle Foundation FSRMM, NERAB, Botnar Stiftung, PRIN 2015

المصدر: Journal of Biological Chemistry ; volume 295, issue 30, page 10331-10339 ; ISSN 0021-9258

مصطلحات موضوعية: Cell Biology, Molecular Biology, Biochemistry

الإتاحة: https://doi.org/10.1074/jbc.ra120.013846Test
https://api.elsevier.com/content/article/PII:S0021925817501416?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0021925817501416?httpAccept=text/plainTest

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2

دورية أكاديمية

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

المؤلفون: Elbaz, Moran, Ruiz, Alexis, Eckhardt, Jan, Pelczar, Pawel, Muntoni, Francesco, Boncompagni, Simona, Treves, Susan, Zorzato, Francesco

المساهمون: M.I.U.R.P.R.I.N., Neuromuscular Research Association Basel, Swiss Muscle Foundation, OPO-Stiftung, BOTNAR Stiftung, Swiss National Science Foundation

المصدر: Human Molecular Genetics ; volume 28, issue 11, page 1872-1884 ; ISSN 0964-6906 1460-2083

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, General Medicine

الإتاحة: https://doi.org/10.1093/hmg/ddz025Test
http://academic.oup.com/hmg/article-pdf/28/11/1872/28658998/ddz025.pdfTest

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3

دورية أكاديمية

Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1mutations

المؤلفون: Bachmann, Christoph, Jungbluth, Heinz, Muntoni, Francesco, Manzur, Adnan Y., Zorzato, Francesco, Treves, Susan

المصدر: Human Molecular Genetics ; page ddw388 ; ISSN 0964-6906 1460-2083

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, General Medicine

الإتاحة: https://doi.org/10.1093/hmg/ddw388Test
http://academic.oup.com/hmg/article-pdf/26/2/320/10935456/ddw388.pdfTest

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4

دورية أكاديمية

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

المؤلفون: Mosca, Barbara, Eckhardt, Jan, Bergamelli, Leda, Treves, Susan, Bongianino, Rossana, De Negri, Marco, Priori, Silvia G., Protasi, Feliciano, Zorzato, Francesco

المصدر: Journal of Biological Chemistry ; volume 291, issue 39, page 20824 ; ISSN 0021-9258

مصطلحات موضوعية: Cell Biology, Molecular Biology, Biochemistry

الإتاحة: https://doi.org/10.1074/jbc.a115.709071Test
https://api.elsevier.com/content/article/PII:S0021925820359500?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0021925820359500?httpAccept=text/plainTest

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5

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

المؤلفون: Adnan Y. Manzur, Heinz Jungbluth, Christoph Bachmann, Francesco Muntoni, Francesco Zorzato, Susan Treves

المصدر: Bachmann, C, Jungbluth, H, Muntoni, F, Manzur, A Y, Zorzato, F & Treves, S 2016, ' Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations ', Human Molecular Genetics, vol. 26, no. 2, pp. 32-332 . https://doi.org/10.1093/hmg/ddw388Test

مصطلحات موضوعية: Male, 0301 basic medicine, Myotubularin, Biopsy, Biophysics, Biology, Histone Deacetylases, NO, Mice, 03 medical and health sciences, congenital myopathies, miotubularina, calcio, congenital myopathies, calcio, Genetics, medicine, Animals, Humans, Centronuclear myopathy, Child, Muscle, Skeletal, Molecular Biology, Zebrafish, Genetics (clinical), Mice, Knockout, RYR1, Myogenesis, Ryanodine receptor, Infant, Newborn, Infant, Skeletal muscle, Ryanodine Receptor Calcium Release Channel, General Medicine, Protein Tyrosine Phosphatases, Non-Receptor, medicine.disease, X-linked myotubular myopathy, Molecular biology, Cell biology, Repressor Proteins, MicroRNAs, 030104 developmental biology, medicine.anatomical_structure, Gene Expression Regulation, Child, Preschool, Mutation, Calcium ion homeostasis, Calcium, Female, miotubularina, Myopathies, Structural, Congenital

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fedd2c9e2fd387c4a980aea5a4b71daTest
http://doc.rero.ch/record/331258/files/HMG_26_2_320.pdfTest

6

Short Peptides Make a Big Difference: The Role of Botany-Derived AMPs in Disease Control and Protection of Human Health

المؤلفون: Xiumei Luo, Wenxian Wu, Haim Treves, Li Feng, Maozhi Ren

المصدر: International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 22, Iss 11363, p 11363 (2021)

مصطلحات موضوعية: QH301-705.5, medicine.drug_class, molecular targets, botany-derived antimicrobial peptides, Antimicrobial peptides, Computational biology, Review, Biology, Antiviral Agents, Catalysis, Inorganic Chemistry, Human health, Immune system, Anti-Infective Agents, medicine, Humans, Plant Immunity, health security, Biology (General), Physical and Theoretical Chemistry, QD1-999, Molecular Biology, Spectroscopy, Disease treatment, Organic Chemistry, disease prevention and control, Agriculture, General Medicine, Plants, Antimicrobial, Disease control, Plant disease, Computer Science Applications, Chemistry, Drug Design, Viruses, Antiviral drug, Antimicrobial Peptides, Antimicrobial Cationic Peptides, mechanism of action

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4851334d320879c73d0539760b68a64Test
http://europepmc.org/articles/PMC8583512Test

7

دورية أكاديمية

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

المؤلفون: Rokach, Ori, Sekulic-Jablanovic, Marijana, Voermans, Nicol, Wilmshurst, Jo, Pillay, Komala, Heytens, Luc, Zhou, Haiyan, Muntoni, Francesco, Gautel, Mathias, Nevo, Yoram, Mitrani-Rosenbaum, Stella, Attali, Ruben, Finotti, Alessia, Gambari, Roberto, Mosca, Barbara, Jungbluth, Heinz, Zorzato, Francesco, Treves, Susan

المصدر: Human Molecular Genetics ; volume 24, issue 16, page 4636-4647 ; ISSN 0964-6906 1460-2083

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, General Medicine

الإتاحة: https://doi.org/10.1093/hmg/ddv195Test
http://academic.oup.com/hmg/article-pdf/24/16/4636/17261920/ddv195.pdfTest

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8

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

المؤلفون: Jan Eckhardt, Pawel Pelczar, Ahmed Alhussni, Thomas M. Humberstone, Christoph Bachmann, Susan Treves, Rebecca Sitsapesan, Alexis Ruiz, Abigail D. Wilson, Simona Boncompagni, Laura Pietrangelo, Elisa Venturi, Moran Elbaz, Francesco Zorzato, Chris Lindsay

المصدر: Human Molecular Genetics. 28:2987-2999

مصطلحات موضوعية: Male, 0301 basic medicine, Myopathy, Compound heterozygosity, Mice, 0302 clinical medicine, Myopathy, Central Core, Genetics (clinical), Mice, Knockout, Ryanodine receptor, Skeletal, General Medicine, Phenotype, medicine.anatomical_structure, Muscle, medicine.symptom, Heterozygote, medicine.medical_specialty, Knockout, chemistry.chemical_element, Motor Activity, Biology, Calcium, NO, 03 medical and health sciences, Internal medicine, Genetics, medicine, Animals, Genetic Predisposition to Disease, Calcium Signaling, Muscle Strength, Centronuclear myopathy, Muscle, Skeletal, Molecular Biology, Alleles, Genetic Association Studies, Calcium metabolism, RYR1, Alleles, Animals, Calcium, Calcium Signaling, Disease Models, Animal, Genetic Association Studies, Genetic Predisposition to Disease, Heterozygote, Male, Mice, Knockout, Motor Activity, Muscle Strength, Muscle, Skeletal, Myopathy, Central Core, Phenotype, Ryanodine Receptor Calcium Release Channel, Mutation, Animal, Skeletal muscle, Ryanodine Receptor Calcium Release Channel, medicine.disease, Disease Models, Animal, 030104 developmental biology, Endocrinology, chemistry, Disease Models, Mutation, Central Core, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0f238d432c7964b8980160ef0f06ddeTest
https://doi.org/10.1093/hmg/ddz092Test

9

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

المؤلفون: Simona Boncompagni, Pawel Pelczar, Jan Eckhardt, Moran Elbaz, Francesco Zorzato, Susan Treves, Francesco Muntoni, Alexis Ruiz

المصدر: Human Molecular Genetics. 28:1872-1884

مصطلحات موضوعية: Adult, Heterozygote, medicine.medical_specialty, Calcium Channels, L-Type, mouse model, Muscle Fibers, Skeletal, Mutant, chemistry.chemical_element, Biology, Calcium, medicine.disease_cause, NO, Frameshift mutation, Mice, Internal medicine, RYR1, Genetics, medicine, Animals, Humans, Frameshift Mutation, Molecular Biology, Alleles, Genetics (clinical), Mutation, Muscle Weakness, Ophthalmoplegia, Muscle biopsy, medicine.diagnostic_test, Voltage-dependent calcium channel, RYR1, mouse model, frameshift mutation, Skeletal muscle, Ryanodine Receptor Calcium Release Channel, General Medicine, musculoskeletal system, Disease Models, Animal, Microscopy, Electron, Endocrinology, medicine.anatomical_structure, chemistry, tissues, Myopathies, Structural, Congenital

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0f10e122c3c5ad709cdc4c4eb67a4a4Test
https://doi.org/10.1093/hmg/ddz025Test

10

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

المؤلفون: Hugues Jacobs, Pascal Kessler, Jocelyn Laporte, Susan Treves, Johann Böhm, Roberto Silva-Rojas, Nadia Messaddeq

المساهمون: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), University of Basel (Unibas), Università degli Studi di Ferrara = University of Ferrara (UniFE), Institut Clinique de la Souris, univOAK, Archive ouverte

المصدر: Human Molecular Genetics
Human Molecular Genetics, 2019, 28 (10), pp.1579-1593. ⟨10.1093/hmg/ddy446⟩

مصطلحات موضوعية: myalgia, ORAI1 Protein, Dyslexia, Intracellular Calcium-Sensing Proteins, Gene Knock-In Techniques, Genetics (clinical), 0303 health sciences, Muscle Weakness, Myogenesis, 030305 genetics & heredity, Ichthyosis, General Medicine, Miosis, eye, Neoplasm Proteins, medicine.anatomical_structure, molecule 1, Muscle Fatigue, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], medicine.symptom, Myopathies, Structural, Congenital, Cell physiology, skin, medicine.medical_specialty, mice, phenotype, Migraine Disorders, stromal interaction, Erythrocytes, Abnormal, Biology, Bone and Bones, NO, 03 medical and health sciences, Immune system, phenotype, mutation, immune system, eye, mice, skin, spleen, stromal interaction, molecule 1, Internal medicine, Genetics, medicine, Animals, Humans, Calcium Signaling, Stromal Interaction Molecule 1, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Muscle, Skeletal, Myopathy, Molecular Biology, Membrane Proteins, Muscle weakness, Skeletal muscle, Disease Models, Animal, immune system, Endocrinology, spleen, Blood Platelet Disorders, mutation, Homeostasis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c1904f223dfc24d4703cd4d21e31254Test
https://doi.org/10.1093/hmg/ddy446Test

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