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1. Full Text Developmental expression of dysbindin in Muller cells of rat retina
by Matteucci, Andrea and Gaddini, Lucia and Macchia, Gianfranco and Varano, Monica and Petrucci, Tamara C and Macioce, Pompeo and Malchiodi-Albedi, Fiorella and Ceccarini, Marina
Experimental Eye Research, ISSN 0014-4835, 11/2013, Volume 116, pp. 1 - 8
Dysbindin, the product of the DTNBP1 gene, was identified by yeast two hybrid assay as a binding partner of dystrobrevin, a cytosolic component of the... 
Müller cells | schizophrenia | dystrophin-associated protein complex | dysbindin | retina | Hermansky–Pudlak syndrome type 7 | Schizophrenia | Dystrophin-associated protein complex | Retina | Hermansky-Pudlak syndrome type 7 | Dysbindin | LOCALIZATION | COMPLEX | SCHIZOPHRENIA SUSCEPTIBILITY GENE | PROTEIN | DTNBP1 | Muller cells | Hermansky-Pudlak syndrome type 7 schizophrenia | BLOC-1 | ASTROCYTE | GLUTAMATE TRANSPORTER | OPHTHALMOLOGY | GLIA | BRAIN | Retina - metabolism | Retina - growth & development | Carrier Proteins - biosynthesis | Ependymoglial Cells - metabolism | Rats | Male | Nerve Tissue Proteins - genetics | Rats, Sprague-Dawley | Blotting, Western | Protein Transport | RNA - genetics | Dystrophin-Associated Proteins | Carrier Proteins - genetics | Animals | Retina - cytology | Gene Expression Regulation, Developmental | Ependymoglial Cells - cytology | Nerve Tissue Proteins - biosynthesis | Electrophoresis | Nervous system diseases | Neurosciences | Utrophin | Genetic research | Biosynthesis | Dystrophin | Cells
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2. Full Text Early effects of high glucose in retinal tissue cultures. Renin-Angiotensin system-dependent and -independent signaling
by Gaddini, Lucia and Villa, Marika and Matteucci, Andrea and Mallozzi, Cinzia and Petrucci, Tamara C and Di Stasi, Anna Maria M and Leo, Lanfranco and Malchiodi-Albedi, Fiorella and Pricci, Flavia
Neurobiology of Disease, ISSN 0969-9961, 08/2009, Volume 35, Issue 2, pp. 278 - 285
The early effects of the diabetic milieu on retinal tissue and their relation to the Renin-Angiotensin system (RAS) activation are poorly known. Here we... 
Diabetic retinopathy | CREB | Müller glia | RAS | Enalaprilat | Retinal neuroglial compartment | Akt | Angiotensin II | Synapses | High glucose | DIABETIC-RETINOPATHY | NEURODEGENERATIVE DISEASE | Muller glia | OXIDATIVE STRESS | TYPE-2 RECEPTOR | KINASE-B | NEUROSCIENCES | CELL-DEATH | FIBRILLARY ACIDIC PROTEIN | GENE-EXPRESSION | CILIARY NEUROTROPHIC FACTOR | BRAIN NEURONS | Retina - drug effects | Phospholipase C gamma - metabolism | Rats | Male | Renin-Angiotensin System - physiology | Rats, Sprague-Dawley | Phosphotyrosine - metabolism | Retina - physiology | Animals | Enalaprilat - pharmacology | Focal Adhesion Kinase 2 - metabolism | Mitogen-Activated Protein Kinase 3 - metabolism | Time Factors | Receptor, Angiotensin, Type 1 - metabolism | Cyclic AMP Response Element-Binding Protein - metabolism | src-Family Kinases - metabolism | Glucose - metabolism | Renin-Angiotensin System - drug effects | Angiotensin-Converting Enzyme Inhibitors - pharmacology | Retinal Neurons - drug effects | In Vitro Techniques | Proto-Oncogene Proteins c-akt - metabolism | Retinal Neurons - physiology | Mitogen-Activated Protein Kinase 1 - metabolism
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3. The Interaction with HMG20a/b Proteins Suggests a Potential Role for b-Dystrobrevin in Neuronal Differentiation
by Artegiani, Benedetta and Labbaye, Catherine and Sferra, Antonella and Quaranta, Maria Teresa and Torreri, Paola and Macchia, Gianfranco and Ceccarini, Marina and Petrucci, Tamara C and Macioce, Pompeo
Journal of Biological Chemistry, ISSN 0021-9258, 08/2010, Volume 285, Issue 32, pp. 24740 - 24750
a and b dystrobrevins are cytoplasmic components of the dystrophin-associated protein complex that are thought to play a role as scaffold proteins in signal... 
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4. The Interaction with HMG20a/b Proteins Suggests a Potential Role for b-Dystrobrevin in Neuronal Differentiation
by Artegiani, Benedetta and Labbaye, Catherine and Sferra, Antonella and Quaranta, Maria Teresa and Torreri, Paola and Macchia, Gianfranco and Ceccarini, Marina and Petrucci, Tamara C and Macioce, Pompeo
Journal of Biological Chemistry, ISSN 0021-9258, 08/2010, Volume 285, Issue 32, pp. 24740 - 24750
a and b dystrobrevins are cytoplasmic components of the dystrophin-associated protein complex that are thought to play a role as scaffold proteins in signal... 
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5. The beta 1 subunit of the Na,K-ATPase pump interacts with megalencephalic leucoencephalopathy with subcortical cysts protein 1 (MLC1) in brain astrocytes: new insights into MLC pathogenesis
by Brignone, Maria S and Lanciotti, Angela and Macioce, Pompeo and Macchia, Gianfranco and Gaetani, Matteo and Aloisi, Francesca and Petrucci, Tamara C and Ambrosini, Elena
Human Molecular Genetics, ISSN 0964-6906, 01/2011, Volume 20, Issue 1, pp. 90 - 103
Megalencephalic leucoencephalopathy with subcortical cysts (MLC) is a rare congenital leucodystrophy caused by mutations in MLC1, a membrane protein of unknown... 
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6. Full Text Evidence for in situ and in vitro association between β-dystroglycan and the subsynaptic 43k rapsyn protein: Consequence for acetylcholine receptor clustering at the synapse
by Cartaud, Annie and Coutant, Sébastien and Petrucci, Tamara C and Cartaud, Jean
Journal of Biological Chemistry, ISSN 0021-9258, 05/1998, Volume 273, Issue 18, pp. 11321 - 11326
The accumulation of dystrophin and associated proteins at the postsynaptic membrane of the neuromuscular junction and their co-distribution with nicotinic... 
ALPHA-DYSTROGLYCAN | SKELETAL-MUSCLE | RICH MEMBRANES | AGRIN RECEPTOR | TYROSINE KINASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | GLYCOPROTEIN COMPLEX | NICOTINIC POSTSYNAPTIC MEMBRANES | EXTRACELLULAR-MATRIX | TORPEDO ELECTRIC ORGAN | NEUROMUSCULAR-JUNCTION | Receptors, Nicotinic - metabolism | Cross-Linking Reagents - chemistry | Membrane Glycoproteins - metabolism | Receptors, Cholinergic - metabolism | Membrane Glycoproteins - chemistry | Torpedo | Cytoplasm - metabolism | Cytoskeletal Proteins - chemistry | Glutathione Transferase - chemistry | Dystroglycans | Succinimides - chemistry | Animals | Synapses - metabolism | Receptors, Nicotinic - chemistry | Muscle Proteins - metabolism | Protein Binding | Cytoskeletal Proteins - metabolism | Muscle Proteins - chemistry
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7. Full Text The β1 subunit of the Na, K-ATPase pump interacts with megalencephalic leucoencephalopathy with subcortical cysts protein 1 (MLC1) in brain astrocytes: New insights into MLC pathogenesis
by Brignone, Maria S and Lanciotti, Angela and Macioce, Pompeo and Macchia, Gianfranco and Gaetani, Matteo and Aloisi, Francesca and Petrucci, Tamara C and Ambrosini, Elena
Human Molecular Genetics, ISSN 0964-6906, 01/2011, Volume 20, Issue 1, pp. 90 - 103
Megalencephalic leucoencephalopathy with subcortical cysts (MLC) is a rare congenital leucodystrophy caused by mutations in MLC1, a membrane protein of unknown... 
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8. Full Text Diversity and Functional Consequences of Germline and Somatic PTPN11 Mutations in Human Disease
by Tartaglia, Marco and Martinelli, Simone and Stella, Lorenzo and Bocchinfuso, Gianfranco and Flex, Elisabetta and Cordeddu, Viviana and Zampino, Giuseppe and van der Burgt, Ineke and Palleschi, Antonio and Petrucci, Tamara C and Sorcini, Mariella and Schoch, Claudia and Foà, Robin and Emanuel, Peter D and Gelb, Bruce D
The American Journal of Human Genetics, ISSN 0002-9297, 2006, Volume 78, Issue 2, pp. 279 - 290
Germline mutations in the gene encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome (NS) and the clinically related LEOPARD syndrome (LS),... 
GENOTYPE-PHENOTYPE CORRELATION | LENTIGINES LEOPARD-SYNDROME | HEMATOPOIETIC-CELL DEVELOPMENT | CONGENITAL HEART-DISEASE | GENETICS & HEREDITY | JUVENILE MYELOMONOCYTIC LEUKEMIA | GENE MUTATION | ACUTE MYELOID-LEUKEMIA | PROTEIN-TYROSINE-PHOSPHATASE | NOONAN-SYNDROME | MYELODYSPLASTIC SYNDROMES | Amino Acid Sequence | Protein Tyrosine Phosphatase, Non-Receptor Type 11 | Humans | LEOPARD Syndrome - genetics | Male | Noonan Syndrome - genetics | Protein Tyrosine Phosphatases - chemistry | Protein Tyrosine Phosphatases - genetics | Intracellular Signaling Peptides and Proteins - chemistry | Germ-Line Mutation | Adult | Female | Protein Conformation | Mutation | Intracellular Signaling Peptides and Proteins - genetics | Leukemia - genetics | Cohort Studies | Phosphorylation | Noonan syndrome | Analysis | Causes of | Children | Research | Health aspects
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9. Full Text Concerted mutation of Phe residues belonging to the β‐dystroglycan ectodomain strongly inhibits the interaction with α‐dystroglycan in vitro
by Bozzi, Manuela and Sciandra, Francesca and Ferri, Lorenzo and Torreri, Paola and Pavoni, Ernesto and Petrucci, Tamara C and Giardina, Bruno and Brancaccio, Andrea
The FEBS Journal, ISSN 1742-464X, 11/2006, Volume 273, Issue 21, pp. 4929 - 4943
The dystroglycan adhesion complex consists of two noncovalently interacting proteins: α‐dystroglycan, a peripheral extracellular subunit that is extensively... 
protein–protein interaction | cell transfection | site‐directed mutagenesis | dystroglycan | alanine scanning | Dystroglycan | Alanine scanning | Cell transfection | Protein-protein interaction | Site-directed mutagenesis | site-directed mutagenesis | LAMININ | BIOCHEMISTRY & MOLECULAR BIOLOGY | HELICES | MUSCULAR-DYSTROPHY | RECEPTOR | IDENTIFICATION | BINDING EPITOPE | DISEASE | protein-protein interaction | SECONDARY STRUCTURE | ALANINE-SCANNING MUTAGENESIS | N-TERMINAL REGION | Protein Structure, Tertiary | Recombinant Proteins - metabolism | Cell Line | Mutagenesis, Site-Directed | Humans | Dystroglycans - metabolism | Recombinant Proteins - chemistry | Recombinant Proteins - genetics | Protein Subunits - metabolism | Peptide Fragments - chemistry | Phenylalanine - genetics | Protein Binding | Dystroglycans - chemistry | Dystroglycans - genetics | Protein Subunits - chemistry | Mutation | Peptide Fragments - genetics | Protein Subunits - genetics
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10. Full Text Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: Dysregulation by pathological mutations
by Lanciotti, Angela and Brignone, Maria S and Molinari, Paola and Visentin, Sergio and De Nuccio, Chiara and Macchia, Gianfranco and Aiello, Chiara and Bertini, Enrico and Aloisi, Francesca and Petrucci, Tamara C and Ambrosini, Elena
Human Molecular Genetics, ISSN 0964-6906, 05/2012, Volume 21, Issue 10, pp. 2166 - 2180
Megalencephalic leukoencephalopathy with subcortical cysts (MLC), a rare leukodystrophy characterized by macrocephaly, subcortical fluid cysts and myelin... 
PATHOGENESIS | CONDUCTANCE | TRANSPORTERS | ATPASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | ALEXANDER-DISEASE | REGULATORY VOLUME DECREASE | MLC1 PROTEIN | GLIAL-CELLS | MODULATION | MOLECULAR-MECHANISMS | Calcium - metabolism | Membrane Proteins - genetics | Humans | Osmosis | Hereditary Central Nervous System Demyelinating Diseases - metabolism | Cysts - metabolism | TRPV Cation Channels - metabolism | Transfection | Cations, Divalent | Cysts - genetics | Membrane Proteins - metabolism | Mutation | Astrocytes - metabolism | Hereditary Central Nervous System Demyelinating Diseases - genetics
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11. Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes
by Martinelli, Simone and Torreri, Paola and Tinti, Michele and Stella, Lorenzo and Bocchinfuso, Gianfranco and Flex, Elisabetta and Grottesi, Alessandro and Ceccarini, Marina and Palleschi, Antonio and Cesareni, Gianni and Castagnoli, Luisa and Petrucci, Tamara C and Gelb, Bruce D and Tartaglia, Marco
Human Molecular Genetics, ISSN 0964-6906, 07/2008, Volume 17, Issue 13, pp. 2018 - 2029
Missense PTPN11 mutations cause Noonan and LEOPARD syndromes (NS and LS), two developmental disorders with pleiomorphic phenotypes. PTPN11 encodes SHP2, an SH2... 
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12. Full Text Caveolin-3 directly interacts with the C-terminal tail of β-dystroglycan. Identification of a central WW-like domain within caveolin family members
by Sotgia, Federica and Lee, Jean Kyung and Das, Kallol and Bedford, Mark and Petrucci, Tamara C and Macioce, Pompeo and Sargiacomo, Massimo and Bricarelli, Franca Dagna and Minetti, Carlo and Sudol, Marius and Lisantia, Michael P
Journal of Biological Chemistry, ISSN 0021-9258, 12/2000, Volume 275, Issue 48, pp. 38048 - 38058
Caveolin-3, the most recently recognized member of the caveolin gene family, is muscle-specific and is found in both cardiac and skeletal muscle, as well as... 
INTEGRAL COMPONENT | SMOOTH-MUSCLE | RICH MEMBRANE DOMAINS | ONCOGENICALLY TRANSFORMED-CELLS | BIOCHEMISTRY & MOLECULAR BIOLOGY | DUCHENNE MUSCULAR-DYSTROPHY | EXTRACELLULAR-MATRIX | TRANSPORT VESICLES | DYSTROPHIN-ASSOCIATED GLYCOPROTEINS | PLASMA-MEMBRANE | SCAFFOLDING DOMAIN | Amino Acid Sequence | Membrane Glycoproteins - metabolism | Membrane Glycoproteins - chemistry | Molecular Sequence Data | Caveolins - metabolism | Cytoskeletal Proteins - chemistry | Dystroglycans | Precipitin Tests | Sequence Homology, Amino Acid | Caveolin 3 | Caveolins - chemistry | Animals | Protein Binding | Cytoskeletal Proteins - metabolism | Mice | Binding Sites | 3T3 Cells
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13. Full Text Dystroglycan is associated to the disulfide isomerase ERp57
by Sciandra, Francesca and Angelucci, Emanuela and Altieri, Fabio and Ricci, Daniela and Hübner, Wolfgang and Petrucci, Tamara C and Giardina, Bruno and Brancaccio, Andrea and Bozzi, Manuela
Experimental Cell Research, ISSN 0014-4827, 11/2012, Volume 318, Issue 19, pp. 2460 - 2469
Dystroglycan (DG) is an extracellular receptor composed of two subunits, α-DG and β-DG, connected through the α-DG C-terminal domain and the β-DG N-terminal... 
Dystroglycan | Immunoprecipitation | Solid-phase binding assay | ERp57 | Fluorescence microscopy | DTT | Pre-DG | NEM | SWGL | ALPHA-DYSTROGLYCAN | CELLS | DOMAIN | PROTEIN | PRECURSOR | PLATELET-FUNCTION | GLYCOPROTEINS | CLEAVAGE | CELL BIOLOGY | ONCOLOGY | BIOSYNTHESIS | BETA-DYSTROGLYCAN | Kidney - physiology | Protein Structure, Tertiary | Protein Subunits | Protein Binding - genetics | Protein Disulfide-Isomerases - metabolism | Heart - physiology | Humans | Cells, Cultured | Dystroglycans - metabolism | Rats | Protein Transport - physiology | Cell Membrane - genetics | Glycosylation | Kidney - metabolism | Animals | HEK293 Cells | Dystroglycans - genetics | Cell Membrane - metabolism | Mutation | Protein Binding - physiology | Fluorescence | Cysteine | Cells | Cystine | Membranes | Glycoproteins | Cellular biology | Protein folding | NEM, N-ethylmaleimide | pre-DG, dystroglycan precursor | DG, dystroglycan | sWGL, succinylated wheat germ lectin | DTT, dithiothreitol
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14. Full Text Biomolecular interactions by Surface Plasmon Resonance technology
by Torreri, Paola and Ceccarini, Marina and Macioce, Pompeo and Petrucci, Tamara C
Annali dell'Istituto Superiore di Sanita, ISSN 0021-2571, 2005, Volume 41, Issue 4, pp. 437 - 441
The Surface Plasmon Resonance (SPR) technique makes it possible to measure biomolecular interactions in real-time with a high degree of sensitivity and without... 
Surface plasmon resonance | Protein-protein interaction | Biomolecular interaction | Kinetic constants | Rabbits | Mutagenesis, Site-Directed | Humans | Dystroglycans - metabolism | Surface Plasmon Resonance - methods | Equipment Design | Antigen-Antibody Reactions | Protein Interaction Mapping | Surface Plasmon Resonance - instrumentation | Animals | Sensitivity and Specificity | Biosensing Techniques | Refractometry | Computer Systems | Kinetics | GRB2 Adaptor Protein - metabolism | Macromolecular Substances - metabolism
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15. Phosphorylation on threonine 11 of [beta]-dystrobrevin alters its interaction with kinesin heavy chain
by Federica Fratini and Gianfranco Macchia and Paola Torreri and Andrea Matteucci and Anna Maria Salzano and Marco Crescenzi and Pompeo Macioce and Tamara C. Petrucci and Marina Ceccarini
The FEBS Journal, ISSN 1742-464X, 11/2012, Volume 279, Issue 22, p. 4131
  Dystrobrevin family members ([alpha] and [beta]) are cytoplasmic components of the dystrophin-associated glycoprotein complex, a multimeric protein complex... 
Proteins | Cellular biology | Molecular biology | Kinases
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16. Dystroglycan is associated to the disulfide isomerase ERp57
: 1
by Francesca Sciandra and Emanuela Angelucci and Fabio Altieri and Daniela Ricci and Wolfgang Hübner and Tamara C. Petrucci and Bruno Giardina and Andrea Brancaccio and Manuela Bozzi
Experimental Cell Research, ISSN 0014-4827, 11/2012, Volume 318, Issue 19, p. 2460
  Dystroglycan (DG) is an extracellular receptor composed of two subunits, α-DG and β-DG, connected through the α-DG C-terminal domain and the β-DG N-terminal... 
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17. Full Text MLC1 protein: A likely link between leukodystrophies and brain channelopathies
by Brignone, Maria S and Lanciotti, Angela and Camerini, Serena and De Nuccio, Chiara and Petrucci, Tamara C and Visentinand, Sergio and Ambrosini, Elena
Frontiers in Cellular Neuroscience, ISSN 1662-5102, 04/2015, Volume 9, p. 66
Megalencephalic leukoencephalopathy with subcortical cysts (MLCs) disease is a rare inherited, autosomal recessive form of childhood-onset spongiform... 
Chloride ions | Brain edema | Calcium | Astrocytes | Potassium | Myelin vacuolation | Phosphorylation | Nuclear magnetic resonance--NMR | Disease | Channelopathy | Epilepsy | Homeostasis | Nervous system | Homology | Kinases | Leukoencephalopathy | Cell adhesion & migration | Proteins | Convulsions & seizures | Meninges | Potassium channels (voltage-gated) | Children | Seizures | Edema | Myelin | Leukodystrophy | Aquaporins | Blood vessels | Gene expression | Membrane proteins | MLC1 protein | Molecular modelling | Cysts | Transmembrane domains | Mutation | Structure-function relationships | Brain Edema
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18. Full Text Astrocytes: Emerging stars in leukodystrophy pathogenesis
by Lanciotti, Angela and Brignone, Maria Stefania and Bertini, Enrico and Petrucci, Tamara C and Aloisi, Francesca and Ambrosini, Elena
Translational Neuroscience, ISSN 2081-3856, 6/2013, Volume 4, Issue 2, pp. 144 - 164
Astrocytes are the predominant glial cell population in the central nervous system (CNS). Once considered only passive scaffolding elements, astrocytes are now... 
Neurosciences | Myelin | Neurobiology | CNS diseases | Leukodystrophies | Neurosurgery | Glial cells | Ion homeostasis | Alexander’s disease | Neurology | Vanishing white matter disease | Medicine & Public Health | Megalencephalic leukoencephalopathy with subcortical cysts (MLC) | Alexander's disease | RAT SPINAL-CORD | DYSTROPHIN-GLYCOPROTEIN COMPLEX | ALPHA-B-CRYSTALLIN | VANISHING WHITE-MATTER | BLOOD-BRAIN-BARRIER | NEUROSCIENCES | PLURIPOTENT STEM-CELLS | FIBRILLARY ACIDIC PROTEIN | OLIGODENDROCYTE PROGENITOR MATURATION | ALEXANDER-DISEASE | CENTRAL-NERVOUS-SYSTEM
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