Aldobrando Broccolini

Summary

Affiliation: Catholic University
Country: Italy

Publications

  1. doi Analysis of NCAM helps identify unusual phenotypes of hereditary inclusion-body myopathy
    A Broccolini
    Department of Neuroscience, Catholic University, Rome, Italy
    Neurology 75:265-72. 2010
  2. ncbi Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy
    Aldobrando Broccolini
    Department of Neuroscience, Catholic University, Rome, Italy
    Hum Mutat 23:632. 2004
  3. ncbi Insulin-like growth factor I in inclusion-body myositis and human muscle cultures
    Aldobrando Broccolini
    Department of Neuroscience, Catholic University, Rome, Italy
    J Neuropathol Exp Neurol 63:650-9. 2004
  4. doi Hyposialylation of neprilysin possibly affects its expression and enzymatic activity in hereditary inclusion-body myopathy muscle
    Aldobrando Broccolini
    Department of Neuroscience, Catholic University, School of Medicine, Rome, Italy
    J Neurochem 105:971-81. 2008
  5. pmc Hereditary inclusion-body myopathy with sparing of the quadriceps: the many tiles of an incomplete puzzle
    A Broccolini
    Department of Neuroscience, Catholic University School of Medicine, Rome, Italy
    Acta Myol 30:91-5. 2011
  6. ncbi Neprilysin participates in skeletal muscle regeneration and is accumulated in abnormal muscle fibres of inclusion body myositis
    Aldobrando Broccolini
    Department of Neuroscience, Catholic University, Rome, Italy
    J Neurochem 96:777-89. 2006
  7. doi Increased aging in primary muscle cultures of sporadic inclusion-body myositis
    Roberta Morosetti
    Department of Neuroscience, Catholic University, Rome, Italy
    Neurobiol Aging 31:1205-14. 2010
  8. ncbi alpha-Dystroglycan does not play a major pathogenic role in autosomal recessive hereditary inclusion-body myopathy
    Aldobrando Broccolini
    Department of Neuroscience, Catholic University, L go A Gemelli 8, 00168 Rome, Italy
    Neuromuscul Disord 15:177-84. 2005
  9. doi TWEAK in inclusion-body myositis muscle: possible pathogenic role of a cytokine inhibiting myogenesis
    Roberta Morosetti
    Department of Neurosciences, Institute of Neurology, Universita Cattolica, Rome, Italy
    Am J Pathol 180:1603-13. 2012
  10. doi Mesoangioblasts from facioscapulohumeral muscular dystrophy display in vivo a variable myogenic ability predictable by their in vitro behavior
    Roberta Morosetti
    Department of Neurosciences, Catholic University School of Medicine A Gemelli, Rome, Italy
    Cell Transplant 20:1299-313. 2011

Collaborators

Detail Information

Publications24

  1. doi Analysis of NCAM helps identify unusual phenotypes of hereditary inclusion-body myopathy
    A Broccolini
    Department of Neuroscience, Catholic University, Rome, Italy
    Neurology 75:265-72. 2010
    ..By Western blot (WB) analysis, we have previously shown that in h-IBM/DMRV muscle, the neural cell adhesion molecule (NCAM) has increased electrophoretic mobility that reflects reduced sialylation of the protein...
  2. ncbi Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy
    Aldobrando Broccolini
    Department of Neuroscience, Catholic University, Rome, Italy
    Hum Mutat 23:632. 2004
    ..Interestingly, in two of our families distinct mutations affected nucleotide c.616 in exon 3 (c.616delG and c.616G>A). The possibility of specific portions of the gene being more prone to mutations remains to be elucidated...
  3. ncbi Insulin-like growth factor I in inclusion-body myositis and human muscle cultures
    Aldobrando Broccolini
    Department of Neuroscience, Catholic University, Rome, Italy
    J Neuropathol Exp Neurol 63:650-9. 2004
    ..Understanding the signaling pathways activated by IGF-I in sIBM may lead to novel therapeutic strategies for the disease...
  4. doi Hyposialylation of neprilysin possibly affects its expression and enzymatic activity in hereditary inclusion-body myopathy muscle
    Aldobrando Broccolini
    Department of Neuroscience, Catholic University, School of Medicine, Rome, Italy
    J Neurochem 105:971-81. 2008
    ..We hypothesize that, in h-IBM muscle, hyposialylated NEP has a role in hampering the cellular Abeta clearing system, thus contributing to its abnormal accumulation within vulnerable fibers and possibly promoting muscle degeneration...
  5. pmc Hereditary inclusion-body myopathy with sparing of the quadriceps: the many tiles of an incomplete puzzle
    A Broccolini
    Department of Neuroscience, Catholic University School of Medicine, Rome, Italy
    Acta Myol 30:91-5. 2011
    ..Understanding the molecular mechanism underlying h-IBM pathology is a fundamental requisite to plan a future attempt to therapy...
  6. ncbi Neprilysin participates in skeletal muscle regeneration and is accumulated in abnormal muscle fibres of inclusion body myositis
    Aldobrando Broccolini
    Department of Neuroscience, Catholic University, Rome, Italy
    J Neurochem 96:777-89. 2006
    ....
  7. doi Increased aging in primary muscle cultures of sporadic inclusion-body myositis
    Roberta Morosetti
    Department of Neuroscience, Catholic University, Rome, Italy
    Neurobiol Aging 31:1205-14. 2010
    ..Our results might be valuable in understanding molecular mechanisms associated with muscle aging underlying the defective regeneration of s-IBM muscle and provide new clues for future therapeutic strategies...
  8. ncbi alpha-Dystroglycan does not play a major pathogenic role in autosomal recessive hereditary inclusion-body myopathy
    Aldobrando Broccolini
    Department of Neuroscience, Catholic University, L go A Gemelli 8, 00168 Rome, Italy
    Neuromuscul Disord 15:177-84. 2005
    ..Therefore, the subtle changes within the alpha-DG glycosylation pattern, detected in HIBM muscles, likely do not play a key pathogenic role in this disorder...
  9. doi TWEAK in inclusion-body myositis muscle: possible pathogenic role of a cytokine inhibiting myogenesis
    Roberta Morosetti
    Department of Neurosciences, Institute of Neurology, Universita Cattolica, Rome, Italy
    Am J Pathol 180:1603-13. 2012
    ..Dysregulation of the TWEAK-Fn14 axis in IBM muscle may induce progressive muscle atrophy and reduce activation and differentiation of muscle precursor cells...
  10. doi Mesoangioblasts from facioscapulohumeral muscular dystrophy display in vivo a variable myogenic ability predictable by their in vitro behavior
    Roberta Morosetti
    Department of Neurosciences, Catholic University School of Medicine A Gemelli, Rome, Italy
    Cell Transplant 20:1299-313. 2011
    ....
  11. ncbi Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression
    Mario Pescatori
    Institute of Neurology, Catholic University, L go A Gemelli 8, 0018, Rome, Italy
    FASEB J 21:1210-26. 2007
    ....
  12. ncbi Isolation and characterization of mesoangioblasts from facioscapulohumeral muscular dystrophy muscle biopsies
    Roberta Morosetti
    Department of Neurosciences, Catholic University School of Medicine, Largo A Gemelli 8, 00168 Rome, Italy
    Stem Cells 25:3173-82. 2007
    ..Disclosure of potential conflicts of interest is found at the end of this article...
  13. doi Sleep disordered breathing in a cohort of patients with sporadic inclusion body myositis
    Giacomo Della Marca
    Institute of Neurology, Catholic University, Rome, Italy
    Clin Neurophysiol 124:1615-21. 2013
    ..The aims of the study were: (1) to evaluate subjective sleep quality and daytime sleepiness in patients affected by sporadic inclusion-body myositis (IBM); (2) to define the sleep and sleep-related respiratory pattern in IBM patients...
  14. pmc Sleep modifications in acute transient global amnesia
    Giacomo Della Marca
    Institute of Neurology, Department of Neurosciences, Catholic University, Rome, Italy
    J Clin Sleep Med 9:921-7. 2013
    ....
  15. doi Hereditary inclusion-body myopathy: clues on pathogenesis and possible therapy
    Aldobrando Broccolini
    Department of Neuroscience, Catholic University, L go A Gemelli 8, 00168 Rome, Italy
    Muscle Nerve 40:340-9. 2009
    ..This review illustrates the clinical and pathologic characteristics of h-IBM/DMRV and the main clues available to date concerning the possible pathogenic mechanisms and therapeutic perspectives of this disorder...
  16. pmc MyoD expression restores defective myogenic differentiation of human mesoangioblasts from inclusion-body myositis muscle
    Roberta Morosetti
    Department of Neurosciences and Interdisciplinary Laboratory for Stem Cell Research and Cellular Therapy, Catholic University, Largo A Gemelli 8, 00168 Rome, Italy
    Proc Natl Acad Sci U S A 103:16995-7000. 2006
    ..Indeed, silencing this gene or overexpressing MyoD rescues the myogenic defect of IBM mesoangioblasts, opening novel cell-based therapeutic strategies for this crippling disorder...
  17. ncbi An Italian family with inclusion-body myopathy and frontotemporal dementia due to mutation in the VCP gene
    Teresa Gidaro
    Department of Neuroscience, Catholic University, L go A Gemelli 8, 00168 Rome, Italy
    Muscle Nerve 37:111-4. 2008
    ..Our study demonstrates that VCP mutations are found in patients of Italian background and may lead to a variable clinical phenotype even within the same kinship...
  18. doi Analysis of MTMR1 expression and correlation with muscle pathological features in juvenile/adult onset myotonic dystrophy type 1 (DM1) and in myotonic dystrophy type 2 (DM2)
    Massimo Santoro
    Department of Neuroscience, Center for Neuromuscular Disorders, Catholic University of Sacred Heart, Rome, Italy
    Exp Mol Pathol 89:158-68. 2010
    ....
  19. doi An Italian case of hereditary myopathy with early respiratory failure (HMERF) not associated with the titin kinase domain R279W mutation
    Giorgio Tasca
    Institute of Neurology, Catholic University School of Medicine, Rome, Italy
    Neuromuscul Disord 20:730-4. 2010
    ..The R279W mutation in the TTN gene was excluded. This report expands the geographical region of incidence and encourages additional studies to clarify the genetic heterogeneity of the condition...
  20. pmc Vessel-associated stem cells from skeletal muscle: From biology to future uses in cell therapy
    Cristina Sancricca
    Cristina Sancricca, Massimiliano Mirabella, Carla Gliubizzi, Aldobrando Broccolini, Teresa Gidaro, Roberta Morosetti, Department of Neurosciences, Catholic University School of Medicine, Largo A Gemelli 8, 00168 Rome, Italy
    World J Stem Cells 2:39-49. 2010
    ..This leads to the concrete possibility in the future to start pilot human clinical trials, hopefully opening the way to a turning point in the treatment of genetic and acquired muscle disorders...
  21. doi Bilateral thalamic stroke transiently reduces arousals and NREM sleep instability
    Marco Luigetti
    Department of Neurosciences, Catholic University of Sacred Heart, Rome, Italy
    J Neurol Sci 300:151-4. 2011
    ..A diagnosis of paramedian thalamic infarction should be considered in patients who present with recurrent episodes of unresponsiveness...
  22. ncbi A human anti-neuronal autoantibody against GABA B receptor induces experimental autoimmune agrypnia
    Giovanni Frisullo
    Department of Neuroscience, Institute of Neurology, Catholic University, Largo Gemelli 8, 00168 Rome, Italy
    Exp Neurol 204:808-18. 2007
    ....
  23. ncbi Constitutive activation of MAPK cascade in acute quadriplegic myopathy
    Simone Di Giovanni
    Center for Genetic Medicine, Children s National Medical Center and Genetics Program, George Washington University, Washington, DC 20010, USA
    Ann Neurol 55:195-206. 2004
    ..The acute stimulation of the TGF-beta/MAPK pathway, coupled with the inactivity-induced atrogin-1/proteosome pathway, leads to the acute muscle loss seen in AQM patients...
  24. ncbi Pharmacological rescue of the dystrophin-glycoprotein complex in Duchenne and Becker skeletal muscle explants by proteasome inhibitor treatment
    Stefania Assereto
    Muscular and Neurodegenerative Disease Unit, University of Genoa and G Gaslini Pediatric Institute, Genoa, Italy
    Am J Physiol Cell Physiol 290:C577-82. 2006
    ..Am J Pathol 163: 1663-1675, 2003). Our present results may have important new implications for the possible pharmacological treatment of Duchenne or Becker muscular dystrophy in humans...