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Modulators of calpain activity: inhibitors and activators as potential drugs
Dokus LE, Yousef M, Banoczi Z
Expert opinion on drug discovery, 2020
Revue : Expert opinion on drug discovery Titre : Modulators of calpain activity: inhibitors and activators as potential drugs Type de document : Article Auteurs : Dokus LE ; Yousef M ; Banoczi Z Editeur : England Année de publication : 02/2020 Langues : Anglais (eng) Mots-clés : article de synthèse ; calpaïne ; calpaïne 3 (maladie liée à) ; dystrophie musculaire des ceintures ; inhibiteur de la calpaïne ; maladie neuromusculaire ; perspective thérapeutique ; physiopathologie ; structure protéique Pubmed / DOI : Pubmed : 32022614 / DOI : 10.1080/17460441.2020.1722638
N° Profil MNM : 2020021 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32022614 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Dissecting the Extracellular Complexity of Neuromuscular Junction Organizers
Guarino SR, Canciani A, Forneris F
Frontiers in molecular biosciences, 2020, 6, p 156
Revue : Frontiers in molecular biosciences, 6 Titre : Dissecting the Extracellular Complexity of Neuromuscular Junction Organizers Type de document : Article Auteurs : Guarino SR ; Canciani A ; Forneris F Editeur : Switzerland Année de publication : 01/2020 Pages : p 156 Langues : Anglais (eng) Mots-clés : article de synthèse ; jonction neuromusculaire ; structure moléculaire Pubmed / DOI : Pubmed : 31998752 / DOI : 10.3389/fmolb.2019.00156
N° Profil MNM : 2020013 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31998752 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Crystal structures of fukutin-related protein (FKRP), a ribitol-phosphate transferase related to muscular dystrophy
Kuwabara N, Imae R, Manya H, et al.
Nature communications, 2020, 11, 1, p 303
Revue : Nature communications, 11, 1 Titre : Crystal structures of fukutin-related protein (FKRP), a ribitol-phosphate transferase related to muscular dystrophy Type de document : Article Auteurs : Kuwabara N ; Imae R ; Manya H ; Tanaka T ; Mizuno M ; Tsumoto H ; Kanagawa M ; Kobayashi K ; Toda T ; Senda T ; Endo T ; Kato R Editeur : England Année de publication : 01/2020 Pages : p 303 Langues : Anglais (eng) Mots-clés : dystroglycanopathie ; dystrophie musculaire congénitale ; maladie neuromusculaire ; RECHERCHE ; structure protéique Pubmed / DOI : Pubmed : 31949166 / DOI : 10.1038/s41467-019-14220-z
N° Profil MNM : 2020012 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31949166 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Force Generation by Myosin Motors: A Structural Perspective
Robert-Paganin J, Pylypenko O, Kikuti C, et al.
Chemical reviews, 2019
Revue : Chemical reviews Titre : Force Generation by Myosin Motors: A Structural Perspective Type de document : Article Auteurs : Robert-Paganin J, Auteur ; Pylypenko O ; Kikuti C ; Sweeney HL ; Houdusse A Editeur : United States Année de publication : 11/2019 Langues : Anglais (eng) Mots-clés : article de synthèse ; complexe actine-myosine ; interaction protéine-protéine ; structure protéique Pubmed / DOI : Pubmed : 31689091 / DOI : 10.1021/acs.chemrev.9b00264
N° Profil MNM : 2019111 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31689091 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Characterizing the interplay between gene nucleotide composition bias and splicing
Lemaire S, Fontrodona N, Aube F, et al.
Genome biology, 2019, 20, 1, p 259
Revue : Genome biology, 20, 1 Titre : Characterizing the interplay between gene nucleotide composition bias and splicing Type de document : Article Auteurs : Lemaire S ; Fontrodona N ; Aube F ; Claude JB ; Polvêche H ; Modolo L ; Bourgeois CF ; Mortreux F ; Auboeuf D Editeur : England Année de publication : 11/2019 Pages : p 259 Langues : Anglais (eng) Mots-clés : biologie moléculaire ; facteur d'épissage ; RECHERCHE ; séquence nucléotidique ; structure moléculaire Pubmed / DOI : Pubmed : 31783898 / DOI : 10.1186/s13059-019-1869-y
N° Profil MNM : 2019121 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31783898 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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How the central domain of dystrophin acts to bridge F-actin to sarcolemmal lipids
Mias-Lucquin D, Dos Santos Morais R, Chéron A, et al.
Journal of structural biology, 2019
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Structural and functional characterization of D109H and R69C mutant versions of human alphaB-crystallin: the biochemical pathomechanism underlying cataract and myopathy development
Ghahramani M, Yousefi R, Krivandin A, et al.
International journal of biological macromolecules, 2019
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Congenital titinopathy: Comprehensive characterisation and pathogenic insights
Oates EC, Jones KJ, Donkervoort S, et al.
Annals of neurology, 2018
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Repairing folding-defective alpha-sarcoglycan mutants by CFTR correctors, a potential therapy for Limb Girdle Muscular Dystrophy 2D
Carotti M, Marsolier J, Soardi M, et al.
Human molecular genetics, 2018, 27, 6, p 969
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From gRNA Identification to the Restoration of Dystrophin Expression: A Dystrophin Gene Correction Strategy for Duchenne Muscular Dystrophy Mutations Using the CRISPR-Induced Deletion Method
Duchêne B, Iyombe-Engembe JP, Rousseau J, et al.
Methods in molecular biology (Clifton, N.J.), 2018, 1687, p 267
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Dystrophin Dp71 Isoforms Are Differentially Expressed in the Mouse Brain and Retina: Report of New Alternative Splicing and a Novel Nomenclature for Dp71 Isoforms
Aragón J, González-Reyes M, Romo-Yáñez J, et al.
Molecular neurobiology, 2018, 55, 2, p 1376
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Making Sense of Antisense Oligonucleotides: A Narrative Review
Goyal N, Narayanaswami P
Muscle & Nerve, 2018, 57, 3, p 356
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Evidence of ER stress and UPR activation in patients with Brody disease and Brody syndrome
Guglielmi V, Voermans NC, Oosterhof A, et al.
Neuropathology and applied neurobiology, 2018, 44, 5, p 533
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Different outcome of sarcoglycan missense mutation between human and mouse
Henriques SF, Patissier C, Bourg N, et al.
PLoS ONE, 2018, 13, 1
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An allosteric link connecting the lipid-protein interface to the gating of the nicotinic acetylcholine receptor
Domville JA, Baenziger JE
Scientific Reports, 2018, 8, 1
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Nuclear Lamins: Thin Filaments with Major Functions
de Leeuw R, Gruenbaum Y, Medalia O
Trends in cell biology, 2018, 28, 1, p 34
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Collagen VI disorders: Insights on form and function in the extracellular matrix and beyond
Lamandé SR, Bateman JF
Matrix biology : journal of the International Society for Matrix Biology, 2017
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WANTED - Dead or alive: Myotubularins, a large disease-associated protein family
Raess MA, Friant S, Cowling BS, et al.
Advances in biological regulation, 2017, 63, p 49
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MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India
Deepha S, Vengalil S, Preethish-Kumar V, et al.
BMC Medical Genetics, 2017, 18, 1
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Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy
Raess MA, Cowling BS, Bertazzi DL, et al.
Human molecular genetics, 2017, 26, 19, p 3736
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Structure-Based Designed Nano-Dysferlin Significantly Improves Dysferlinopathy in BLA/J Mice
Llanga T, Nagy N, Conatser L, et al.
Molecular therapy : the journal of the American Society of Gene Therapy, 2017, 25, 9, p 2150
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MFN1 structures reveal nucleotide-triggered dimerization critical for mitochondrial fusion
Cao YL, Meng S, Chen Y, et al.
Nature, 2017, 542, 7641, p 372
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Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement
Fernandez-Marmiesse A, Carrascosa-Romero MC, Alfaro Ponce B, et al.
Neuromuscular disorders : NMD, 2017, 27, 2, p 188
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A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy
Rossi D, Palmio J, Evila A, et al.
PLoS ONE, 2017, 12, 10
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Molecular mechanisms of Charcot-Marie-Tooth neuropathy linked to mutations in human myelin protein P2
Ruskamo S, Nieminen T, Kristiansen CK, et al.
Scientific Reports, 2017, 7, 1
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