Mustafa Sahin

Summary

Affiliation: Harvard University
Country: USA

Publications

  1. pmc Tsc2-Rheb signaling regulates EphA-mediated axon guidance
    Duyu Nie
    The F M Kirby Neurobiology Center, Department of Neurology, Children s Hospital Boston, Harvard Medical School, Boston, Massachusetts, USA
    Nat Neurosci 13:163-72. 2010
  2. pmc Targeted treatment trials for tuberous sclerosis and autism: no longer a dream
    Mustafa Sahin
    The FM Kirby Neurobiology Center, Department of Neurology, Children s Hospital Boston, Harvard Medical School, Boston, MA 02115, USA
    Curr Opin Neurobiol 22:895-901. 2012
  3. pmc Tuberous sclerosis complex activity is required to control neuronal stress responses in an mTOR-dependent manner
    Alessia Di Nardo
    The F M Kirby Neurobiology Center, Department of Neurology, Children s Hospital Boston, Harvard Medical School, Boston, Massachusetts 02115, USA
    J Neurosci 29:5926-37. 2009
  4. pmc Response of a neuronal model of tuberous sclerosis to mammalian target of rapamycin (mTOR) inhibitors: effects on mTORC1 and Akt signaling lead to improved survival and function
    Lynsey Meikle
    Division of Translational Medicine, Department of Medicine, Brigham and Women s Hospital, Children s Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA
    J Neurosci 28:5422-32. 2008
  5. pmc Tuberous sclerosis complex proteins control axon formation
    Yong Jin Choi
    The F M Kirby Neurobiology Center, Department of Neurology, Children s Hospital Boston, Harvard Medical School, Boston, Massachusetts 02115, USA
    Genes Dev 22:2485-95. 2008
  6. pmc Loss of the tuberous sclerosis complex tumor suppressors triggers the unfolded protein response to regulate insulin signaling and apoptosis
    Umut Ozcan
    Department of Genetics and Complex Diseases, Harvard School of Public Health, Harvard University, Boston, MA 02115, USA
    Mol Cell 29:541-51. 2008
  7. pmc Murine Glut-1 transporter haploinsufficiency: postnatal deceleration of brain weight and reactive astrocytosis
    Paivi M Ullner
    Department of Neurology, Colleen Giblin Laboratories for Pediatric Neurology Research, Columbia University, New York, NY, USA
    Neurobiol Dis 36:60-9. 2009
  8. pmc Impaired language pathways in tuberous sclerosis complex patients with autism spectrum disorders
    William W Lewis
    Department of Neurology, Children s Hospital Boston and Harvard Medical School, Boston, MA 02115, USA
    Cereb Cortex 23:1526-32. 2013
  9. pmc Prenatal rapamycin results in early and late behavioral abnormalities in wildtype C57BL/6 mice
    Peter T Tsai
    Department of Neurology, The F M Kirby Neurobiology Center, Boston Children s Hospital, 300 Longwood Avenue CLS13074, Boston, MA 02115, USA
    Behav Genet 43:51-9. 2013
  10. pmc Graded loss of tuberin in an allelic series of brain models of TSC correlates with survival, and biochemical, histological and behavioral features
    Elizabeth Yuan
    Department of Medicine, Brigham and Women s Hospital, Boston, MA 02115, USA
    Hum Mol Genet 21:4286-300. 2012

Detail Information

Publications40

  1. pmc Tsc2-Rheb signaling regulates EphA-mediated axon guidance
    Duyu Nie
    The F M Kirby Neurobiology Center, Department of Neurology, Children s Hospital Boston, Harvard Medical School, Boston, Massachusetts, USA
    Nat Neurosci 13:163-72. 2010
    ..Our results indicate that TSC2-Rheb-mTOR signaling cooperates with the ephrin-Eph receptor system to control axon guidance in the visual system...
  2. pmc Targeted treatment trials for tuberous sclerosis and autism: no longer a dream
    Mustafa Sahin
    The FM Kirby Neurobiology Center, Department of Neurology, Children s Hospital Boston, Harvard Medical School, Boston, MA 02115, USA
    Curr Opin Neurobiol 22:895-901. 2012
    ..This review summarizes the advantages of using TSC as model of ASD and the recent advances in the translational and clinical treatment trials in TSC...
  3. pmc Tuberous sclerosis complex activity is required to control neuronal stress responses in an mTOR-dependent manner
    Alessia Di Nardo
    The F M Kirby Neurobiology Center, Department of Neurology, Children s Hospital Boston, Harvard Medical School, Boston, Massachusetts 02115, USA
    J Neurosci 29:5926-37. 2009
    ..They also suggest that some of the neuronal dysfunction and neurocognitive deficits seen in TSC patients may be attributable to ER and oxidative stress and therefore potentially responsive to agents moderating these pathways...
  4. pmc Response of a neuronal model of tuberous sclerosis to mammalian target of rapamycin (mTOR) inhibitors: effects on mTORC1 and Akt signaling lead to improved survival and function
    Lynsey Meikle
    Division of Translational Medicine, Department of Medicine, Brigham and Women s Hospital, Children s Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA
    J Neurosci 28:5422-32. 2008
    ..Although caution is appropriate, the results suggest the possibility that rapamycin/RAD001 may have benefit in the treatment of TSC brain disease, including infantile spasms...
  5. pmc Tuberous sclerosis complex proteins control axon formation
    Yong Jin Choi
    The F M Kirby Neurobiology Center, Department of Neurology, Children s Hospital Boston, Harvard Medical School, Boston, Massachusetts 02115, USA
    Genes Dev 22:2485-95. 2008
    ....
  6. pmc Loss of the tuberous sclerosis complex tumor suppressors triggers the unfolded protein response to regulate insulin signaling and apoptosis
    Umut Ozcan
    Department of Genetics and Complex Diseases, Harvard School of Public Health, Harvard University, Boston, MA 02115, USA
    Mol Cell 29:541-51. 2008
    ..These results demonstrate ER stress as a critical component of the pathologies associated with dysregulated mTOR activity and offer the possibility to exploit this mechanism for new therapeutic opportunities...
  7. pmc Murine Glut-1 transporter haploinsufficiency: postnatal deceleration of brain weight and reactive astrocytosis
    Paivi M Ullner
    Department of Neurology, Colleen Giblin Laboratories for Pediatric Neurology Research, Columbia University, New York, NY, USA
    Neurobiol Dis 36:60-9. 2009
    ..These subtle immunochemical changes reflect chronic nutrient deficiency during brain development and represent the experimental correlates to the human neurological phenotype associated with Glut-1 DS...
  8. pmc Impaired language pathways in tuberous sclerosis complex patients with autism spectrum disorders
    William W Lewis
    Department of Neurology, Children s Hospital Boston and Harvard Medical School, Boston, MA 02115, USA
    Cereb Cortex 23:1526-32. 2013
    ..Impaired microstructure in language pathways of TSC patients may indicate the development of ASD, although prospective studies of language pathway development and ASD diagnosis in TSC remain essential...
  9. pmc Prenatal rapamycin results in early and late behavioral abnormalities in wildtype C57BL/6 mice
    Peter T Tsai
    Department of Neurology, The F M Kirby Neurobiology Center, Boston Children s Hospital, 300 Longwood Avenue CLS13074, Boston, MA 02115, USA
    Behav Genet 43:51-9. 2013
    ..These findings are of importance in considering prenatal administration of rapamycin and related drugs in the treatment of patients with neurogenetic, neurodevelopmental disorders...
  10. pmc Graded loss of tuberin in an allelic series of brain models of TSC correlates with survival, and biochemical, histological and behavioral features
    Elizabeth Yuan
    Department of Medicine, Brigham and Women s Hospital, Boston, MA 02115, USA
    Hum Mol Genet 21:4286-300. 2012
    ..In addition, they point to the potential clinical benefit of strategies to raise TSC2 protein expression from the wild-type allele by even modest amounts...
  11. pmc Regulable neural progenitor-specific Tsc1 loss yields giant cells with organellar dysfunction in a model of tuberous sclerosis complex
    June Goto
    Translational Medicine Division, Department of Medicine, Brigham and Women s Hospital, Boston, MA 02115, USA
    Proc Natl Acad Sci U S A 108:E1070-9. 2011
    ..This TSC brain model provides insights into the pathogenesis and organelle dysfunction of giant cells, as well as epilepsy control in patients with TSC...
  12. doi request reprint A genetic model to dissect the role of Tsc-mTORC1 in neuronal cultures
    Duyu Nie
    Department of Neurology, The F M Kirby Neurobiology Center, Children s Hospital Boston, Harvard Medical School, Boston, MA, USA
    Methods Mol Biol 821:393-405. 2012
    ..Here, we have established a genetic model of mTOR complex 1 (mTORC1) activation in culture by using lentiviral vector-mediated TSC2 knockdown, which offers a reliable tool for analyzing the TSC-mTORC1 signaling in neurons...
  13. pmc Promoting axon regeneration in the adult CNS by modulation of the PTEN/mTOR pathway
    Kevin Kyungsuk Park
    F M Kirby Neurobiology Center, Children s Hospital, and Department of Neurology, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA
    Science 322:963-6. 2008
    ..Thus, our results suggest the manipulation of intrinsic growth control pathways as a therapeutic approach to promote axon regeneration after CNS injury...
  14. pmc A magnetic resonance imaging study of cerebellar volume in tuberous sclerosis complex
    Neil I Weisenfeld
    Department of Radiology, Children s Hospital Boston, Harvard Medical School, Boston, MA 02115, USA
    Pediatr Neurol 48:105-10. 2013
    ..We conclude that patients with tuberous sclerosis complex exhibit volume loss in the cerebellum, and this loss is larger and more widespread in patients with a tuberous sclerosis 2 mutation...
  15. pmc Characterizing the distribution of anisotropic micro-structural environments with diffusion-weighted imaging (DIAMOND)
    Benoit Scherrer
    Boston Children s Hospital, 300 Longwood Avenue, Boston, MA 02115, USA
    Med Image Comput Comput Assist Interv 16:518-26. 2013
    ..We evaluate our approach with numerous in-vivo experiments, with cross-testing and with pathological DW-MRI. We show that DIAMOND may provide novel biomarkers that captures the tissue integrity...
  16. pmc Brain functional networks in syndromic and non-syndromic autism: a graph theoretical study of EEG connectivity
    Jurriaan M Peters
    Computational Radiology Laboratory, Department of Radiology, Boston Children s Hospital, Boston, MA 02115, USA
    BMC Med 11:54. 2013
    ....
  17. pmc TSC1/TSC2 signaling in the CNS
    Juliette M Han
    The FM Kirby Neurobiology Center, Department of Neurology, Children s Hospital Boston, Harvard Medical School, Boston, MA 02115, USA
    FEBS Lett 585:973-80. 2011
    ..Overall, TSC1/2 signaling in the CNS, via its multi-faceted roles, contributes to proper neural connectivity. Here, we will review the TSC signaling in the CNS...
  18. pmc Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice
    Peter T Tsai
    The F M Kirby Neurobiology Center, Department of Neurology, Boston Children s Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA
    Nature 488:647-51. 2012
    ..These findings demonstrate new roles for Tsc1 in PC function and define a molecular basis for a cerebellar contribution to cognitive disorders such as autism...
  19. pmc Registration and analysis of white matter group differences with a multi-fiber model
    Maxime Taquet
    Computational Radiology Laboratory, Children s Hospital Boston, Harvard, USA
    Med Image Comput Comput Assist Interv 15:313-20. 2012
    ..Morphometry analysis and tract-based statistics are then carried out, proving that multi-fiber models registration is better at detecting white matter local differences than single tensor registration...
  20. pmc Neuronal Tsc1/2 complex controls autophagy through AMPK-dependent regulation of ULK1
    Alessia Di Nardo
    The F M Kirby Neurobiology Center, Department of Neurology, Children s Hospital Boston, Harvard Medical School, Boston, MA 02115, USA
    Hum Mol Genet 23:3865-74. 2014
    ..By uncovering the autophagy dysfunction associated with Tsc2 loss in neurons, our work sheds light on a previously uncharacterized cellular mechanism that contributes to altered neuronal homeostasis in TSC disease. ..
  21. pmc Loss of white matter microstructural integrity is associated with adverse neurological outcome in tuberous sclerosis complex
    Jurriaan M Peters
    Department of Neurology, Children s Hospital Boston and Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA
    Acad Radiol 19:17-25. 2012
    ..The cause of adverse neurologic outcome remains unclear. The aim of this study was to investigate the hypothesis that disordered white matter and abnormal neural connectivity are associated with adverse neurologic outcomes...
  22. pmc Mechanisms of neurocognitive dysfunction and therapeutic considerations in tuberous sclerosis complex
    Peter Tsai
    The F M Kirby Neurobiology Center, Department of Neurology, Children s Hospital Boston, Harvard Medical School, Boston, Massachusetts, USA
    Curr Opin Neurol 24:106-13. 2011
    ..Here we review recent advances in our understanding of TSC pathogenesis and signaling pathways that may be modulated to treat the neurological symptoms...
  23. ncbi request reprint A mouse model of tuberous sclerosis: neuronal loss of Tsc1 causes dysplastic and ectopic neurons, reduced myelination, seizure activity, and limited survival
    Lynsey Meikle
    Division of Translational Medicine, Department of Medicine, Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
    J Neurosci 27:5546-58. 2007
    ..This new TSC brain model replicates several features of human TSC brain lesions and implicates an important function of Tsc1/Tsc2 in neuronal development...
  24. pmc EphB-mediated degradation of the RhoA GEF Ephexin5 relieves a developmental brake on excitatory synapse formation
    Seth S Margolis
    Department of Neurobiology, Harvard Medical School, Boston, MA 02115, USA
    Cell 143:442-55. 2010
    ..These findings suggest that aberrant EphB/Ephexin5 signaling during the development of synapses may contribute to the abnormal cognitive function that occurs in Angelman syndrome and, possibly, ASDs...
  25. pmc The neuroprotective drug riluzole acts via small conductance Ca2+-activated K+ channels to ameliorate defects in spinal muscular atrophy models
    Maria Dimitriadi
    Department of Neuroscience, Brown University, Providence, Rhode Island 02912, USA
    J Neurosci 33:6557-62. 2013
    ..We propose that riluzole improves motor neuron function by acting on SK channels and suggest that SK channels may be important therapeutic targets for SMA patients...
  26. doi request reprint Clinical presentation and diagnosis of tuberous sclerosis complex in infancy
    Anita N Datta
    Department of Neurology, Children s Hospital and Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA
    J Child Neurol 23:268-73. 2008
    ..Early diagnosis of tuberous sclerosis complex may be essential to the success of future therapies by providing a window of opportunity for their use...
  27. doi request reprint Pediatric epileptology
    Mustafa Sahin
    Department of Neurology, Children s Hospital Boston, Boston, MA, USA
    Epilepsy Behav 22:32-7. 2011
    ..Two outstanding young investigators provide a review of their exciting research and its implications in pediatric epilepsy...
  28. ncbi request reprint Characterization of autism in young children with tuberous sclerosis complex
    Shafali S Jeste
    Department of Neurology, Children s Hospital, Boston, MA 02115, USA
    J Child Neurol 23:520-5. 2008
    ..The authors conclude that clinic-referred children with tuberous sclerosis complex and autism are at considerable risk for cognitive impairment. These characteristics may help to guide more tailored services for these high-risk children...
  29. pmc Diffusion features of white matter in tuberous sclerosis with tractography
    Michelle L Krishnan
    Computational Radiology Laboratory, Department of Radiology, Children s Hospital Boston, Harvard Medical School, Boston, Massachusetts
    Pediatr Neurol 42:101-6. 2010
    ..The visual and social cognition systems appear to be differentially involved, which might in part explain the behavioral and cognitive characteristics of the tuberous sclerosis complex population...
  30. pmc Endothelial cell-fatty acid binding protein 4 promotes angiogenesis: role of stem cell factor/c-kit pathway
    Harun Elmasri
    Division of Neonatology, Brigham and Women s Hospital, Harvard Medical School, Thorn 1019, 75 Francis Street, Boston, MA, USA
    Angiogenesis 15:457-68. 2012
    ..These data unravel a novel pro-angiogenic role for endothelial cell-FABP4 and suggest that it could be exploited as a potential target for diseases associated with pathological angiogenesis...
  31. pmc Interaction of survival of motor neuron (SMN) and HuD proteins with mRNA cpg15 rescues motor neuron axonal deficits
    Bikem Akten
    The F M Kirby Neurobiology Center, Department of Neurology, Children s Hospital Boston, Harvard Medical School, Boston, MA 02115, USA
    Proc Natl Acad Sci U S A 108:10337-42. 2011
    ..Our results provide insight into the function of SMN protein in axons and also identify potential targets for the study of mechanisms that lead to the SMA pathology and related neuromuscular diseases...
  32. ncbi request reprint Vav family GEFs link activated Ephs to endocytosis and axon guidance
    Christopher W Cowan
    Neurobiology Program, Children s Hospital, Boston, Massachusetts 02115, USA
    Neuron 46:205-17. 2005
    ..These findings suggest an important role for Vav family GEFs as regulators of ligand-receptor endocytosis and determinants of repulsive signaling during axon guidance...
  33. ncbi request reprint Neonatal subependymal giant cell astrocytoma: new case and review of literature
    G Praveen Raju
    Department of Neurology, Children s Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA
    Pediatr Neurol 36:128-31. 2007
    ..This report investigates an extremely large neonatal subependymal giant cell astrocytoma which was initially identified in utero at 19 weeks of gestation in a high-risk pregnancy with no family history of tuberous sclerosis complex...
  34. pmc S6K1 regulates GSK3 under conditions of mTOR-dependent feedback inhibition of Akt
    Hui H Zhang
    Department of Genetics and Complex Diseases, Harvard School of Public Health, Harvard Medical School, Boston, Massachusetts 02115, USA
    Mol Cell 24:185-97. 2006
    ..We find that GSK3 can also be regulated downstream of mTORC1 in a HepG2 model of cellular insulin resistance. Therefore, we define conditions in which S6K1, rather than Akt, is the predominant GSK3 regulatory kinase...
  35. doi request reprint Age- and gender-dependent obesity in individuals with 16p11.2 deletion
    Yongguo Yu
    Department of Laboratory Medicine, Children s Hospital Boston, Harvard Medical School, Boston, MA 02115, USA
    J Genet Genomics 38:403-9. 2011
    ..16p11.2 deletion appears to predispose individuals to juvenile onset obesity and in this case are similar to the well-described Prader-Willi syndrome (PWS). Early detection of this deletion will provide opportunity to prevent obesity...
  36. pmc Translational research: Rett syndrome and tuberous sclerosis complex
    Omar S Khwaja
    Department of Neurology, Children s Hospital Boston, Harvard Medical School, Boston, Massachusetts, USA
    Curr Opin Pediatr 23:633-9. 2011
    ..Here, we review the recent advances in our understanding of RTT and TSC pathogenesis and signaling pathways that may be targeted for novel treatments...
  37. pmc Maximum a posteriori estimation of isotropic high-resolution volumetric MRI from orthogonal thick-slice scans
    Ali Gholipour
    Department of Radiology, Childrens Hospital Boston, and Harvard Medical School, 300 Longwood Ave, Boston, MA 02115, USA
    Med Image Comput Comput Assist Interv 13:109-16. 2010
    ..We also report applications in pediatric and fetal imaging...
  38. pmc Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders
    Michael S L Ching
    Division of Developmental Medicine, Children s Hospital Boston, Boston, Massachusetts 02115, USA
    Am J Med Genet B Neuropsychiatr Genet 153:937-47. 2010
    ..Our study indicates that deletions of NRXN1 predispose to a wide spectrum of developmental disorders...
  39. ncbi request reprint The effects of anti-adhesion materials in preventing postoperative adhesion in abdominal cavity (anti-adhesion materials for postoperative adhesions)
    Mustafa Sahin
    Department of General Surgery, Selcuk University Meram Medical Faculty, Konya, Turkey
    Inflammation 30:244-9. 2007
    ..The purpose of this study was to compare the effects of anti-adhesion materials in postoperative adhesions...
  40. ncbi request reprint Induction and assessment methods used in experimental adhesion studies
    Hakan Ozel
    First Department of Surgery, Ankara Numune Training and Research Hospital, Ankara, Turkey
    Wound Repair Regen 13:358-64. 2005
    ..Extensive use of complex adhesion classification systems should be used to resolve this discordance between experimental studies...

Research Grants5

  1. REGULATION OF NMDA RECEPTOR CLUSTERING BY EPH KINASES
    Mustafa Sahin; Fiscal Year: 2004
    ..abstract_text> ..
  2. Role of TSC Proteins in Neuronal Polarity and Axon Guidance
    Mustafa Sahin; Fiscal Year: 2007
    ..Our results, thus, may suggest further avenues of exploration to illuminate the complex causes of the devastating neurological symptoms that characterize TSC. ..
  3. Role of TSC Proteins in Neuronal Polarity and Axon Guidance
    Mustafa Sahin; Fiscal Year: 2009
    ..Our results, thus, may suggest further avenues of exploration to illuminate the complex causes of the devastating neurological symptoms that characterize TSC. ..
  4. Role of TSC Proteins in Neuronal Polarity and Axon Guidance
    Mustafa Sahin; Fiscal Year: 2010
    ..Our results, thus, may suggest further avenues of exploration to illuminate the complex causes of the devastating neurological symptoms that characterize TSC. ..