about
A new pathway encompassing calpain 3 and its newly identified substrate cardiac ankyrin repeat protein is involved in the regulation of the nuclear factor-κB pathway in skeletal muscleNF-kappaB-dependent expression of the antiapoptotic factor c-FLIP is regulated by calpain 3, the protein involved in limb-girdle muscular dystrophy type 2AA human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactomeCloning of human striatin cDNA (STRN), gene mapping to 2p22-p21, and preferential expression in brainA novel calmodulin-binding protein, belonging to the WD-repeat family, is localized in dendrites of a subset of CNS neuronsLack of correlation between outcomes of membrane repair assay and correction of dystrophic changes in experimental therapeutic strategy in dysferlinopathyDeregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophyCalcium-dependent plasma membrane repair requires m- or mu-calpain, but not calpain-3, the proteasome, or caspases.Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications.Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation.Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study.Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report.Calpains in muscle wasting.Rs488087 single nucleotide polymorphism as predictive risk factor for pancreatic cancersCalpain 3: a key regulator of the sarcomere?Truncated prelamin A expression in HGPS-like patients: a transcriptional study.Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders.Ins and outs of therapy in limb girdle muscular dystrophies.Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' CellsIdentification of splicing defects caused by mutations in the dysferlin gene.Clinical massively parallel sequencing for the diagnosis of myopathies.Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing.Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy.UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene.A codon-optimized Mecp2 transgene corrects breathing deficits and improves survival in a mouse model of Rett syndrome.Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype.Comment on: A novel dysferlin-mutant pseudoexon bypassed with antisense oligonucleotidesA third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay.Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping.A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy.AAV-mediated delivery of a mutated myostatin propeptide ameliorates calpain 3 but not alpha-sarcoglycan deficiency.Noninvasive monitoring of therapeutic gene transfer in animal models of muscular dystrophies.Safety and efficacy of AAV-mediated calpain 3 gene transfer in a mouse model of limb-girdle muscular dystrophy type 2A.Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency.Distribution of striatin, a newly identified calmodulin-binding protein in the rat brain: an in situ hybridization and immunocytochemical study.Relationships between striatin-containing neurons and cortical or thalamic afferent fibres in the rat striatum. An ultrastructural study by dual labelling.Exclusion of mutations in the dysferlin alternative exons 1 of DYSF-v1, 5a, and 40a in a cohort of 26 patients.Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy.Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy.A mouse model for monitoring calpain activity under physiological and pathological conditions.
P50
Q24300582-78E1FFE2-8370-4855-B6AB-4EEF762B7AD2Q24303059-F4C38688-FA3A-4DF4-840D-BD5B0332BE89Q24317313-6D896070-B211-4141-9203-6965793D4AF2Q24321531-0E9750F3-9D6D-4083-8BC1-AD15AC9099A5Q24671652-15ABE136-A5C3-4E10-89A4-60B9EED75D4BQ27301945-FB99E1A6-F73E-4F31-BAAC-5AD2436632A8Q27322323-C8F84A14-83A0-4A74-ACF7-814B8601C303Q33506801-1302A150-4949-4460-A109-7BCA86BF15FBQ34233835-D12DC70B-FAFF-4D5D-807A-CE902D0AF4E8Q34746653-79318F6F-185C-4FB2-86E2-8FE78780466AQ35061314-91DE457E-10FB-4966-BD2A-1DD0B924B2C0Q36135207-4157A273-8302-4053-B56B-4249792B0E23Q36241898-96FFA351-0D69-4A14-B78D-4E2C4080A351Q36545489-0B68344B-0AF9-48E2-B88C-F82B9A504AB4Q36554853-31FF3672-3927-4900-9BE2-F60EAE28BA22Q36695378-C906D620-0D53-4015-BDA1-D4F060AC1F50Q36717755-4CE020D9-9285-4920-BFB8-70377EC6E1C1Q36752453-2B10BD7C-4AB4-48D3-B4DC-A32084EC2140Q37589627-9F3E234C-8451-48ED-ACC1-FB4EB368483FQ38422287-67784568-40DE-40AA-B8E4-9A05E7B25175Q38506576-AE424FC2-67B3-4D44-8B5D-AC9AD8785AE5Q38931273-BEE343B4-52DB-4299-88FA-6BBF69342236Q39178189-8E3430DC-1E54-41F4-86EE-91A3DF8EDEB4Q39668411-2A17024C-A83E-4508-A6AB-2D3ACDDF1F2AQ40425160-7AEB3173-7606-4FD1-974A-22D29F7E5C06Q41536718-1530474A-04DD-4737-A467-E20802CD38E7Q42429944-335CD031-7B40-451C-9C7B-42E0C03B627BQ42831909-A44697D0-8E8D-4142-93F3-80E4D2A68F17Q45855450-8A29235B-85A1-4108-AF98-923B1C2DCE2FQ45863762-0A984F1D-5A5D-4F40-B331-39FA4EFF3670Q45866351-9B370857-E659-4494-BD03-E90C4A202EB8Q45886068-90798858-E1B9-41FA-890E-82F652844F3FQ45888604-381DF349-DD78-403C-99F6-4B342AB6D3B2Q47152385-B78AFFD2-AB4E-49A2-AD2F-FF850074EC40Q47814931-686F1A02-3EE1-4CD3-A60D-62C90B502396Q48024694-9FB659C1-8C2B-43F7-872F-120B635F989DQ48067021-6520F9C2-480B-4BD8-95D1-F4FD3206204EQ48344669-5C846DE5-4947-4DE5-8D6C-FD288D76285FQ50738350-EA204389-5798-4B5D-B1B0-AFDE7CFCE7A6Q51487311-C9E09DF7-3EBA-4125-A06E-E0DF8451126A
P50
description
hulumtues
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Marc Bartoli
@ast
Marc Bartoli
@en
Marc Bartoli
@es
Marc Bartoli
@nl
Marc Bartoli
@sl
type
label
Marc Bartoli
@ast
Marc Bartoli
@en
Marc Bartoli
@es
Marc Bartoli
@nl
Marc Bartoli
@sl
prefLabel
Marc Bartoli
@ast
Marc Bartoli
@en
Marc Bartoli
@es
Marc Bartoli
@nl
Marc Bartoli
@sl
P1053
Q-5979-2017
P106
P1153
7006828660
P21
P31
P3829
P496
0000-0003-3339-9858