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structure protéiqueSynonyme(s)protein conformation ;conformation des protéines protein structure |
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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
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
Force Generation by Myosin Motors: A Structural Perspective
Robert-Paganin J, Pylypenko O, Kikuti C, et al.
Chemical reviews, 2019
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
Congenital titinopathy: Comprehensive characterisation and pathogenic insights
Oates EC, Jones KJ, Donkervoort S, et al.
Annals of neurology, 2018
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
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
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
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
Different outcome of sarcoglycan missense mutation between human and mouse
Henriques SF, Patissier C, Bourg N, et al.
PLoS ONE, 2018, 13, 1
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
Nuclear Lamins: Thin Filaments with Major Functions
de Leeuw R, Gruenbaum Y, Medalia O
Trends in cell biology, 2018, 28, 1, p 34
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
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
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
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
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
MFN1 structures reveal nucleotide-triggered dimerization critical for mitochondrial fusion
Cao YL, Meng S, Chen Y, et al.
Nature, 2017, 542, 7641, p 372
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
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
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
La dystrophine présente plusieurs sites indépendants pour son ancrage membranaire : [Les cahiers de Myologie]
Mornet D
Les Cahiers de Myologie, 2016, Vol.32, Hors série n°2, p.49
Myopathies des ceintures : le séquençage à haut débit a permis d’identifier un nouveau gène, le gène POPCD1
Urtizberea JA
2016
Myology 2016 : 5th International Congress of Myology ; Posters n° 104 to 156 - Dystrophinopathies (Duchenne, Becker, others)
Congrès : 5th International Congress of Myology (14-18 March 2016; Centre convention, Lyon, France)
2016, p. 72-97
