Genomes and Genes
Experts and Doctors on muscle proteins in Italy
Topic: muscle proteins
- Grasselli E, Voci A, Pesce C, Canesi L, Fugassa E, Gallo G, et al. PAT protein mRNA expression in primary rat hepatocytes: Effects of exposure to fatty acids. Int J Mol Med. 2010;25:505-12 pubmed..Up-regulation of TIP47 and OXPAT might represent an early response to excess lipids, while, in correspondence with a lipid overload, up-regulation of ADRP could address lipids towards storage. ..
- Faulkner G, Pallavicini A, Formentin E, Comelli A, Ievolella C, Trevisan S, et al. ZASP: a new Z-band alternatively spliced PDZ-motif protein. J Cell Biol. 1999;146:465-75 pubmed..The transcript coding for this Z-band alternatively spliced PDZ motif (ZASP) protein maps on chromosome 10q22.3-10q23.2, near the locus for infantile-onset spinocerebellar ataxia. ..
- Cozzi F, Marson P, Pigatto E, Tison T, Polito P, Galozzi P, et al. Plasma-exchange as a "rescue therapy" for dermato/polymyositis in acute phase. Experience in three young patients. Transfus Apher Sci. 2015;53:368-72 pubmed publisher..The tracheostomy and PEG tubes could be removed. Our findings suggest that plasma-exchange in association with immunosuppressant agents could play a relevant role in the management of dermato/polymyositis in acute phase. ..
- Di Mauro D, Gaeta R, Arco A, Milardi D, Lentini S, Runci M, et al. Distribution of costameric proteins in normal human ventricular and atrial cardiac muscle. Folia Histochem Cytobiol. 2009;47:605-8 pubmed publisher..Moreover, our data showed that all tested proteins colocalize between each other. ..
- De Palo P, Maggiolino A, Centoducati P, Milella P, Calzaretti G, Tateo A. Is meat quality from Longissimus lumborum samples correlated with other cuts in horse meat?. Anim Sci J. 2016;87:428-38 pubmed publisher..Although almost all the qualitative parameters in meat are affected by the anatomical site and by the muscle, the Longissimus lumborum is often not representative in horse meat with regard to modifications of this parameters. ..
- Davoli R, Braglia S, Lama B, Fontanesi L, Buttazzoni L, Baiocco C, et al. Mapping, identification of polymorphisms and analysis of allele frequencies in the porcine skeletal muscle myopalladin and titin genes. Cytogenet Genome Res. 2003;102:152-6 pubmed..Further studies are needed to test the presence of a putative effect of myopalladin on lean meat content. ..
- Amodeo P, Castiglione Morelli M, Strazzullo G, Fucile P, Gautel M, Motta A. Kinase recognition by calmodulin: modeling the interaction with the autoinhibitory region of human cardiac titin kinase. J Mol Biol. 2001;306:81-95 pubmed
- Toffolo G, Albright R, Joyner M, Dietz N, Cobelli C, Nair K. Model to assess muscle protein turnover: domain of validity using amino acyl-tRNA vs. surrogate measures of precursor pool. Am J Physiol Endocrinol Metab. 2003;285:E1142-9 pubmed..The precision was unacceptable in a substantial percentage of cases, and the accuracy of the estimation of protein fluxes was significantly affected when surrogate measures were used. ..
- Gelfi C, Vasso M, Cerretelli P. Diversity of human skeletal muscle in health and disease: contribution of proteomics. J Proteomics. 2011;74:774-95 pubmed publisher..The advantages as well as the limits of proteomics in view of the identification of new biomarkers are evaluated. ..
- Rusmini P, Crippa V, Giorgetti E, Boncoraglio A, Cristofani R, Carra S, et al. Clearance of the mutant androgen receptor in motoneuronal models of spinal and bulbar muscular atrophy. Neurobiol Aging. 2013;34:2585-603 pubmed publisher..Collectively, these data support the hypothesis that treatments aimed at restoring a normal autophagic flux that result in the more efficient clearance of mutant ARpolyQ might produce beneficial effects in SBMA patients. ..
- Vasuri F, Capizzi E, Bellavista E, Mishto M, Santoro A, Fiorentino M, et al. Studies on immunoproteasome in human liver. Part I: absence in fetuses, presence in normal subjects, and increased levels in chronic active hepatitis and cirrhosis. Biochem Biophys Res Commun. 2010;397:301-6 pubmed publisher..Other inflammatory stimuli contribute in inducing high levels of immunoproteasome in pathological conditions, where its role deserve further attention. ..
- Dellavalle A, Sampaolesi M, Tonlorenzi R, Tagliafico E, Sacchetti B, Perani L, et al. Pericytes of human skeletal muscle are myogenic precursors distinct from satellite cells. Nat Cell Biol. 2007;9:255-67 pubmed
- Barbetti F, Rocchi M, Bossolasco M, Cordera R, Sbraccia P, Finelli P, et al. The human skeletal muscle glycogenin gene: cDNA, tissue expression and chromosomal localization. Biochem Biophys Res Commun. 1996;220:72-7 pubmed..In situ hybridization unequivocally located the human glycogenin gene to chromosome 3q25.1. Furthermore, we mapped two intronless glycogenin-related sequences to human chromosomes 12 and 13. ..
- Confalonieri P, Oliva L, Andreetta F, Lorenzoni R, Dassi P, Mariani E, et al. Muscle inflammation and MHC class I up-regulation in muscular dystrophy with lack of dysferlin: an immunopathological study. J Neuroimmunol. 2003;142:130-6 pubmed..These findings differ from polymyositis (PM) but are closely similar to those in SJL/J mice (which lack dysferlin) and emphasize the relationship between absence of dysferlin and immune system abnormalities in muscle. ..
- Imparato A, Pelizzola A, Zamparo M. Ising-like model for protein mechanical unfolding. Phys Rev Lett. 2007;98:148102 pubmed..By using an extended form of the Jarzynski equality, we compute the free energy landscape of the PIN1 as a function of the molecule length. ..
- Raffaello A, Laveder P, Romualdi C, Bean C, Toniolo L, Germinario E, et al. Denervation in murine fast-twitch muscle: short-term physiological changes and temporal expression profiling. Physiol Genomics. 2006;25:60-74 pubmed..We conclude that, if studied at the mRNA level, fast muscles appear not less responsive than slow muscles to the interruption of neural stimulation. ..
- Barbato R, Menabo R, Dainese P, Carafoli E, Schiaffino S, Di Lisa F. Binding of cytosolic proteins to myofibrils in ischemic rat hearts. Circ Res. 1996;78:821-8 pubmed..These changes of the myofibrillar proteins could be considered as intracellular markers of the evolution of the ischemic damage. In addition, the binding of the 23-kD peptide might be involved in alterations of contractility. ..
- Renna L, Bosè F, Iachettini S, Fossati B, Saraceno L, Milani V, et al. Receptor and post-receptor abnormalities contribute to insulin resistance in myotonic dystrophy type 1 and type 2 skeletal muscle. PLoS ONE. 2017;12:e0184987 pubmed publisher..Our data indicate that post-receptor signalling abnormalities might contribute to DM insulin resistance regardless the alteration of INSR splicing. ..
- Restani P, Ballabio C, Tripodi S, Fiocchi A. Meat allergy. Curr Opin Allergy Clin Immunol. 2009;9:265-9 pubmed publisher..There are some reports of cross-contamination associated with the inadequate cleaning of industrial or butchers' equipment. All these aspects may have serious implications for clinical practice. ..
- Scicchitano B, Spath L, Musaro A, Molinaro M, Adamo S, Nervi C. AVP induces myogenesis through the transcriptional activation of the myocyte enhancer factor 2. Mol Endocrinol. 2002;16:1407-16 pubmed..Together, these results show that AVP induces myogenic differentiation through the transcriptional activation of MEF2, a mechanism that is critical for myogenesis. ..
- Tomasi M, Canato M, Paolini C, Dainese M, Reggiani C, Volpe P, et al. Calsequestrin (CASQ1) rescues function and structure of calcium release units in skeletal muscles of CASQ1-null mice. Am J Physiol Cell Physiol. 2012;302:C575-86 pubmed publisher..Thus our results support the view that CASQ1 plays a key role in both Ca(2+) homeostasis and TC structure. ..
- Francolini M, Brunelli G, Cambianica I, Barlati S, Barbon A, La Via L, et al. Glutamatergic reinnervation and assembly of glutamatergic synapses in adult rat skeletal muscle occurs at cholinergic endplates. J Neuropathol Exp Neurol. 2009;68:1103-15 pubmed publisher..Taken together, these results indicate that cholinergic endplates can be targeted by new glutamatergic projections and that the clustering of AMPA receptors occurs there. ..
- Ghezzi D, Viscomi C, Ferlini A, Gualandi F, Mereghetti P, DeGrandis D, et al. Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence. Hum Mol Genet. 2009;18:1058-64 pubmed publisher..We found no difference in import efficiency and protein maturation between wild-type and mutant MR-1 variants. These results indicate that PNKD is due to a novel disease mechanism based on a deleterious action of the MTS. ..
- Brancaccio M, Menini N, Bongioanni D, Ferretti R, De Acetis M, Silengo L, et al. Chp-1 and melusin, two CHORD containing proteins in vertebrates. FEBS Lett. 2003;551:47-52 pubmed..Sequence analysis suggests that the muscle specific CHORD containing protein melusin originated by a gene duplication event during early chordate evolution. ..
- Melone M, Varoqui H, Erickson J, Conti F. Localization of the Na(+)-coupled neutral amino acid transporter 2 in the cerebral cortex. Neuroscience. 2006;140:281-92 pubmed
- Ferretti R, Sbroggiò M, Di Savino A, Fusella F, Bertero A, Michowski W, et al. Morgana and melusin: two fairies chaperoning signal transduction. Cell Cycle. 2011;10:3678-83 pubmed publisher..Melusin, however, organizes ERK signal transduction in cardiomyocytes and regulates cardiac compensatory hypertrophy in response to different stress stimuli. ..
- Valle G, Faulkner G, De Antoni A, Pacchioni B, Pallavicini A, Pandolfo D, et al. Telethonin, a novel sarcomeric protein of heart and skeletal muscle. FEBS Lett. 1997;415:163-8 pubmed..In human, telethonin maps at 17q12, adjacent to the phenylethanolamine N-methyltransferase gene. ..
- Fontanesi L, Colombo M, Scotti E, Buttazzoni L, Bertolini F, Dall Olio S, et al. The porcine tribbles homolog 3 (TRIB3) gene: Identification of a missense mutation and association analysis with meat quality and production traits in Italian heavy pigs. Meat Sci. 2010;86:808-13 pubmed publisher..1 and P<0.05). This polymorphism tended to be associated with lactate content of the semimembranosus muscle (P<0.1). Among several other tissues, TRIB3 is expressed in fat and skeletal muscle. ..
- Vezzoli M, Castellani P, Corna G, Castiglioni A, Bosurgi L, Monno A, et al. High-mobility group box 1 release and redox regulation accompany regeneration and remodeling of skeletal muscle. Antioxid Redox Signal. 2011;15:2161-74 pubmed publisher..We propose that the early antioxidant response in regenerating muscle limits HMGB1 oxidation, thus allowing successful muscle regeneration. ..
- Schiaffino S, Reggiani C. Molecular diversity of myofibrillar proteins: gene regulation and functional significance. Physiol Rev. 1996;76:371-423 pubmed..Both myosin and troponin isoforms contribute to the differences in the resistance to fatigue of muscle fibers...
- Moroni I, Gonano E, Comi G, Tegazzin V, Prelle A, Bordoni A, et al. Ryanodine receptor gene point mutation and malignant hyperthermia susceptibility. J Neurol. 1995;242:127-33 pubmed..We undertook a mutation analysis of RYR1 gene testing for the presence of five point mutations; in one pedigree a C1840-->T point mutation was detected, strictly segregating with in vitro MH susceptibility. ..
- Gandolfi G, Pomponio L, Ertbjerg P, Karlsson A, Nanni Costa L, Lametsch R, et al. Investigation on CAST, CAPN1 and CAPN3 porcine gene polymorphisms and expression in relation to post-mortem calpain activity in muscle and meat quality. Meat Sci. 2011;88:694-700 pubmed publisher..2), confirming a direct role for calpastatin but not for calpain 3 in meat tenderization. In conclusion, CAST gene affected post-mortem activation time of calpain and drip loss...
- Brunelli S, Tagliafico E, De Angelis F, Tonlorenzi R, Baesso S, Ferrari S, et al. Msx2 and necdin combined activities are required for smooth muscle differentiation in mesoangioblast stem cells. Circ Res. 2004;94:1571-8 pubmed..These data support the hypothesis that Msx2 and necdin act as master genes regulating SM differentiation in at least a subset of SMCs. ..
- Egeo A, Di Lisi1 R, Sandri C, Mazzocco M, Lapide M, Schiaffino S, et al. Developmental expression of the SH3BGR gene, mapping to the Down syndrome heart critical region. Mech Dev. 2000;90:313-6 pubmed..Our results, demonstrating that Sh3bgr is expressed in earliest stages of mouse heart development, support a possible role of this gene in heart morphogenesis and, consequently, in the pathogenesis of CHD in DS. ..
- Sandri C, Di Lisi R, Picard A, Argentini C, Calabria E, Myklak K, et al. Heart morphogenesis is not affected by overexpression of the Sh3bgr gene mapping to the Down syndrome heart critical region. Hum Genet. 2004;114:517-9 pubmed..We report here that heart morphogenesis is not affected by overexpression of Sh3bgr. ..
- Giorgino F, de Robertis O, Laviola L, Montrone C, Perrini S, McCowen K, et al. The sentrin-conjugating enzyme mUbc9 interacts with GLUT4 and GLUT1 glucose transporters and regulates transporter levels in skeletal muscle cells. Proc Natl Acad Sci U S A. 2000;97:1125-30 pubmed..The mUbc9 sentrin-conjugating enzyme represents a novel regulator of GLUT1 and GLUT4 protein levels with potential importance as a determinant of basal and insulin-stimulated glucose uptake in normal and pathophysiological states. ..
- Di Carlo A, De Mori R, Martelli F, Pompilio G, Capogrossi M, Germani A. Hypoxia inhibits myogenic differentiation through accelerated MyoD degradation. J Biol Chem. 2004;279:16332-8 pubmed..Our study revealed a novel anti-differentiation effect exerted by hypoxia in myogenic cells and identified MyoD degradation as a relevant target of hypoxia. ..
- Lolicato M, Bucchi A, Arrigoni C, Zucca S, Nardini M, Schroeder I, et al. Cyclic dinucleotides bind the C-linker of HCN4 to control channel cAMP responsiveness. Nat Chem Biol. 2014;10:457-62 pubmed publisher..Furthermore, these data extend the signaling scope of cyclic dinucleotides in mammals beyond their first reported role in innate immune system. ..
- Bergandi L, Silvagno F, Russo I, Riganti C, Anfossi G, Aldieri E, et al. Insulin stimulates glucose transport via nitric oxide/cyclic GMP pathway in human vascular smooth muscle cells. Arterioscler Thromb Vasc Biol. 2003;23:2215-21 pubmed
- Nanni L, Pieroni M, Chimenti C, Simionati B, Zimbello R, Maseri A, et al. Hypertrophic cardiomyopathy: two homozygous cases with "typical" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy. Biochem Biophys Res Commun. 2003;309:391-8 pubmed..We identified five unreported mutations, potentially "malignant" defects as for the associated phenotypes, but no specific mutations of HCM/DCM. ..
- Recchia A, De Francesco E, Vivacqua A, Sisci D, Panno M, Ando S, et al. The G protein-coupled receptor 30 is up-regulated by hypoxia-inducible factor-1alpha (HIF-1alpha) in breast cancer cells and cardiomyocytes. J Biol Chem. 2011;286:10773-82 pubmed publisher..Taken together, our data suggest that the hypoxia-induced expression of GPER may be included among the mechanisms involved in the anti-apoptotic effects elicited by estrogens, particularly in a low oxygen microenvironment. ..
- Polimeni M, Giorgi S, De Gregorio L, Dragani T, Molinaro M, Cossu G, et al. Differentiation dependent expression in muscle cells of ZT3, a novel zinc finger factor differentially expressed in embryonic and adult tissues. Mech Dev. 1996;54:107-17 pubmed..Its expression in other tissues is compatible with the suggestion that members of this class of DNA-binding factors play different roles during post-implantation development and in the adult life. ..
- Nascimbeni A, Fanin M, Tasca E, Angelini C. Transcriptional and translational effects of intronic CAPN3 gene mutations. Hum Mutat. 2010;31:E1658-69 pubmed publisher..A comprehensive approach is therefore recommended to identify and describe unclassified variants in order to offer essential data for basic and clinical geneticists. ..
- Moran O, Nizzari M, Conti F. Inactivation defects produced by a myopathic II-S6 mutation of the muscle sodium channel. Biochem Biophys Res Commun. 1998;246:792-6 pubmed..The changes on the inactivation properties of the mutant channel may be related with the muscle fibre hyperexcitability observed patients affected by PAM...
- Angori S, Capanni C, Faulkner G, Bean C, Boriani G, Lattanzi G, et al. Emery-Dreifuss Muscular Dystrophy-Associated Mutant Forms of Lamin A Recruit the Stress Responsive Protein Ankrd2 into the Nucleus, Affecting the Cellular Response to Oxidative Stress. Cell Physiol Biochem. 2017;42:169-184 pubmed publisher..By introducing a plausible mechanism ruling this accumulation, our data hint at a novel function of Ankrd2 in the pathogenesis of EDMD2-affected cells. ..
- Pallavicini A, Kojic S, Bean C, Vainzof M, Salamon M, Ievolella C, et al. Characterization of human skeletal muscle Ankrd2. Biochem Biophys Res Commun. 2001;285:378-86 pubmed..This is particularly evident in dystrophic muscles, where the expression of Ankrd2 in slow fibers seems to be severely reduced. ..
- Costelli P, Carbó N, Busquets S, Lopez Soriano F, Baccino F, Argiles J. Reduced protein degradation rates and low expression of proteolytic systems support skeletal muscle hypertrophy in transgenic mice overexpressing the c-ski oncogene. Cancer Lett. 2003;200:153-60 pubmed..The down-regulation of protein breakdown is paralleled by decreased expression of genes belonging to the lysosomal as well as to the ATP-ubiquitin-dependent proteolytic pathways. ..
- Desaphy J, De Luca A, Didonna M, George A, Camerino Conte D, Luca A. Different flecainide sensitivity of hNav1.4 channels and myotonic mutants explained by state-dependent block. J Physiol. 2004;554:321-34 pubmed..This study offers a pharmacogenetic strategy to better address treatment in individual myotonic patients...
- Cagliani R, Fortunato F, Giorda R, Rodolico C, Bonaglia M, Sironi M, et al. Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population. Neuromuscul Disord. 2003;13:788-95 pubmed..The possible existence of a founder effect for the Arg959Trp mutation in the Italian population is discussed. ..
- Cossu G, Kelly R, Tajbakhsh S, Di Donna S, Vivarelli E, Buckingham M. Activation of different myogenic pathways: myf-5 is induced by the neural tube and MyoD by the dorsal ectoderm in mouse paraxial mesoderm. Development. 1996;122:429-37 pubmed..The possible developmental significance of these observations is discussed and a model of myogenic determination in mammals is proposed. ..
- Galbiati M, Onesto E, Zito A, Crippa V, Rusmini P, Mariotti R, et al. The anabolic/androgenic steroid nandrolone exacerbates gene expression modifications induced by mutant SOD1 in muscles of mice models of amyotrophic lateral sclerosis. Pharmacol Res. 2012;65:221-30 pubmed publisher..Altogether, these data suggest that, in fALS, muscle gene expression is altered at early stages, and AAS may exacerbate some of the alterations induced by SOD1 possibly acting as a contributing factor also in sALS. ..
- Paredi G, Raboni S, Bendixen E, de Almeida A, Mozzarelli A. "Muscle to meat" molecular events and technological transformations: the proteomics insight. J Proteomics. 2012;75:4275-89 pubmed publisher..These studies are primarily aimed at identifying protein patterns and/or individual proteins diagnostic of the quality of the final product. ..
- Hirsch E, Gullberg D, Balzac F, Altruda F, Silengo L, Tarone G. Alpha v integrin subunit is predominantly located in nervous tissue and skeletal muscle during mouse development. Dev Dyn. 1994;201:108-20 pubmed..Moreover, alpha v is likely to be involved in the myotendinous junction during embryonic life, suggesting a dual functional role of this integrin in muscle and nervous tissue. ..
- Fanin M, Fulizio L, Nascimbeni A, Spinazzi M, Piluso G, Ventriglia V, et al. Molecular diagnosis in LGMD2A: mutation analysis or protein testing?. Hum Mutat. 2004;24:52-62 pubmed..This study reports the largest collection of LGMD2A patients so far in which both protein and gene mutations were obtained to draw genotype-protein-phenotype correlations and provide insights into a critical protein domain. ..
- Volpe P, Bravin M, Zorzato F, Margreth A. Isolation of terminal cisternae of frog skeletal muscle. Calcium storage and release properties. J Biol Chem. 1988;263:9901-7 pubmed
- Ciarapica R, De Salvo M, Carcarino E, Bracaglia G, Adesso L, Leoncini P, et al. The Polycomb group (PcG) protein EZH2 supports the survival of PAX3-FOXO1 alveolar rhabdomyosarcoma by repressing FBXO32 (Atrogin1/MAFbx). Oncogene. 2014;33:4173-84 pubmed publisher..They also suggest that the reducing activity of EZH2 could represent a novel adjuvant strategy to eradicate high-risk PAX3-FOXO1 alveolar RMS. ..
- Canducci F, Saita D, Foglieni C, Piscopiello M, Chiesa R, Colombo A, et al. Cross-reacting antibacterial auto-antibodies are produced within coronary atherosclerotic plaques of acute coronary syndrome patients. PLoS ONE. 2012;7:e42283 pubmed publisher..These findings demonstrated that in human atherosclerotic plaques a local cross-reactive immune response takes place. ..
- Milanesi R, Baruscotti M, Gnecchi Ruscone T, DiFrancesco D. Familial sinus bradycardia associated with a mutation in the cardiac pacemaker channel. N Engl J Med. 2006;354:151-7 pubmed..These changes, which mimic those of mild vagal stimulation, slow the heart rate by decreasing the inward diastolic current. Thus, diminished function of pacemaker channels is linked to familial bradycardia. ..
- Tarroni P, Rossi D, Conti A, Sorrentino V. Expression of the ryanodine receptor type 3 calcium release channel during development and differentiation of mammalian skeletal muscle cells. J Biol Chem. 1997;272:19808-13 pubmed..These findings indicate that RyR3 is preferentially expressed in differentiated skeletal muscle cells. In addition, during skeletal muscle development, its expression is regulated differently from that of RyR1. ..
- Sacchetto R, Turcato F, Damiani E, Margreth A. Interaction of triadin with histidine-rich Ca(2+)-binding protein at the triadic junction in skeletal muscle fibers. J Muscle Res Cell Motil. 1999;20:403-15 pubmed
- Cossu G, Borello U. Wnt signaling and the activation of myogenesis in mammals. EMBO J. 1999;18:6867-72 pubmed
- Calamai M, Taddei N, Stefani M, Ramponi G, Chiti F. Relative influence of hydrophobicity and net charge in the aggregation of two homologous proteins. Biochemistry. 2003;42:15078-83 pubmed
- Kojic S, Medeot E, Guccione E, Krmac H, Zara I, Martinelli V, et al. The Ankrd2 protein, a link between the sarcomere and the nucleus in skeletal muscle. J Mol Biol. 2004;339:313-25 pubmed..Therefore, our findings strengthen the hypothesis that Ankrd2 may be involved in sensing stress signals and linking these to muscle gene regulation. ..
- Ferrera L, Moran O. Beta1-subunit modulates the Nav1.4 sodium channel by changing the surface charge. Exp Brain Res. 2006;172:139-50 pubmed
- Bucchi A, Tognati A, Milanesi R, Baruscotti M, DiFrancesco D. Properties of ivabradine-induced block of HCN1 and HCN4 pacemaker channels. J Physiol. 2006;572:335-46 pubmed..The mode of action of ivabradine on the two channels is discussed by implementing a simplified version of a previously developed model of f-channel kinetics. ..
- Fanin M, Nascimbeni A, Angelini C. Muscle protein analysis in the detection of heterozygotes for recessive limb girdle muscular dystrophy type 2B and 2E. Neuromuscul Disord. 2006;16:792-9 pubmed..Muscle protein analysis would be used to screen asymptomatic patients who underwent muscle biopsy because of unexplained hyperCKemia. ..
- Paolini C, Quarta M, Nori A, Boncompagni S, Canato M, Volpe P, et al. Reorganized stores and impaired calcium handling in skeletal muscle of mice lacking calsequestrin-1. J Physiol. 2007;583:767-84 pubmed..Taken together these results demonstrate that CS1 is essential for the normal development of the SR and its calcium release units and for the storage and release of appropriate amounts of SR Ca(2+). ..
- Moretti D, Del Bello B, Cosci E, Biagioli M, Miracco C, Maellaro E. Novel variants of muscle calpain 3 identified in human melanoma cells: cisplatin-induced changes in vitro and differential expression in melanocytic lesions. Carcinogenesis. 2009;30:960-7 pubmed publisher..On the whole, our observations suggest that calpain 3 variants can play a proapoptotic role in melanoma cells and its downregulation, as observed in highly aggressive lesions, could contribute to melanoma progression. ..
- Lerario A, Cogiamanian F, Marchesi C, Belicchi M, Bresolin N, Porretti L, et al. Effects of rituximab in two patients with dysferlin-deficient muscular dystrophy. BMC Musculoskelet Disord. 2010;11:157 pubmed publisher..Furthermore, the results of this study indicate that B cell depletion with RTX may be useful in the treatment of patients affected by MM, suggesting a possible role for B cells in the pathophysiology of this muscle disorder. ..
- Castellani L, Salvati E, Alema S, Falcone G. Fine regulation of RhoA and Rock is required for skeletal muscle differentiation. J Biol Chem. 2006;281:15249-57 pubmed..Finally, we have reported that Rock acts independently from RhoA in preventing myoblast exit from the cell cycle and commitment to differentiation and may receive signaling inputs from Raf-1 kinase. ..
- Kanduc D. Potential cross-reactivity between HPV16 L1 protein and sudden death-associated antigens. J Exp Ther Oncol. 2011;9:159-65 pubmed..The present data may help evaluate the potential crossreactivity risks in anti-tumor vaccination protocols based on HPV16 L1 protein...
- Salani S, Lucchiari S, Fortunato F, Crimi M, Corti S, Locatelli F, et al. Developmental and tissue-specific regulation of a novel dysferlin isoform. Muscle Nerve. 2004;30:366-74 pubmed..Our findings suggest that the two proteins play different roles in myogenic cell differentiation and that dysferlin function in peripheral nerve might be accomplished by this novel isoform. ..
- Mazzocco M, Maffei M, Egeo A, Vergano A, Arrigo P, Di Lisi R, et al. The identification of a novel human homologue of the SH3 binding glutamic acid-rich (SH3BGR) gene establishes a new family of highly conserved small proteins related to Thioredoxin Superfamily. Gene. 2002;291:233-9 pubmed..We propose that the identification of SH3BGRL2 establishes a novel family of human genes, coding for highly conserved small proteins belonging to Thioredoxin-like protein Superfamily. ..
- Mazzocco M, Arrigo P, Egeo A, Maffei M, Vergano A, Di Lisi R, et al. A novel human homologue of the SH3BGR gene encodes a small protein similar to Glutaredoxin 1 of Escherichia coli. Biochem Biophys Res Commun. 2001;285:540-5 pubmed..EGFP-SH3BGRL3 fusion protein expressed in COS-7 cells localizes both to the nucleus and to the cytoplasm. The SH3BGRL3 gene was mapped to chromosome 1p34.3-35. ..
- Recchia A, Filice E, Pellegrino D, Dobrina A, Cerra M, Maggiolini M. Endothelin-1 induces connective tissue growth factor expression in cardiomyocytes. J Mol Cell Cardiol. 2009;46:352-9 pubmed publisher..CTGF inhibitors should be considered in setting a comprehensive pharmacological approach towards ET-1 induced cardiovascular diseases. ..
- Borello U, Coletta M, Tajbakhsh S, Leyns L, De Robertis E, Buckingham M, et al. Transplacental delivery of the Wnt antagonist Frzb1 inhibits development of caudal paraxial mesoderm and skeletal myogenesis in mouse embryos. Development. 1999;126:4247-55 pubmed..Taken together, these results suggest that Wnt signals may act by regulating both myogenic commitment and expansion of committed cells in the mouse mesoderm. ..