Research

LIke ThisLIke ThisLIke This

Mustafa  Sahin, MD, PhD

Mustafa Sahin, MD, PhD
Research Center:
F.M. Kirby Neurobiology Center
Program:
Neurobiology Program
Department:
Neurology Research
Hospital Title:
Assistant in Neurology
Academic Title:
Professor in Neurology
Research Focus Area:
Axon development and neurologic disease
Contact:
617-355-8994
Contact Via Email
Send an email to SendYour Name*Your Email Address*Subject*Comments*

Research Overview

My lab is investigating the normal cellular functions of signaling pathways implicated in neurological disease, with an emphasis on axon growth and guidance. Our research centers upon the proteins affected in tuberous sclerosis complex (TSC) and spinal muscular atrophy (SMA) -- two neurological disorders whose genetic basis is well understood but whose cell biology remains unknown. As a clinical neurologist, I also treat patients with neurological disease. One of the ultimate goals of our research is to guide the development of therapeutics for disorders of neural connectivity. My team is currently conducting clinical trials investigating new treatments for TSC.

Tuberous Sclerosis Complex

TSC is a multi-system autosomal dominant disease caused by loss-of-function mutations in the TSC1 or TSC2 gene. This disease is characterized by the formation of benign tumors (hamartomas) in several organs. The brain is almost invariably affected, and patients often present with epilepsy, autism and mental retardation. We hypothesize that a miswiring of neuronal connections may underlie these neurological symptoms.

We have recently found that the TSC1 and TSC2 proteins restrict axon formation and growth. In mouse models of TSC, we observe ectopic axons and abnormal axon path-finding in the brain. The axonal functions of the TSC proteins may be important in understanding the neurological features of the disease--and, more generally, in understanding the pathology of the autism spectrum disorders that affect patients both with and without TSC. Click to see how TSC proteins control axon development.

We are further exploring the molecular network in which the Tsc proteins function, and have found that modulation of the growth-promoting mTOR pathway, which is regulated by TSC proteins, can promote axon regeneration in the adult central nervous system. We are also interested in other neuronal functions of the TSC
signaling network, such as the control of neuron size, myelination, survival and stress responses. For instance, my lab, in collaboration with others, has shown that in a mouse model of TSC, neurons are sized abnormally, are not sufficiently myelinated and are prone to cell death. In other studies, we have found that TSC
activity mediates mTOR's response to neuronal stress. In particular, neurons lacking a functional TSC protein complex are more vulnerable to endoplasmic reticulum stress-induced cell death. Click to see a schematic of the mTOR signaling pathway.

Spinal Muscular Atrophy

Our second major line of research aims to understand axonal pathology in SMA, an autosomal recessive neuromuscular disease. SMA is characterized by hypotonia and muscle weakness, as spinal motor neurons are lost, and is caused by mutations in the SMN gene.

It is known that the SMN protein controls RNA processing and is important for axon development, but the details remain enigmatic. We hypothesize that axonal RNA transport and/or translation are not properly regulated in the disease. To investigate this, we are characterizing the role of the SMN protein in axon growth and guidance in vivo, as well as identifying proteins and mRNA targets that interact with SMN in neurons. We hope that our work will provide new insight into the signaling mechanisms responsible for establishing brain circuitry, and ultimately suggest therapeutic interventions for disorders in which these signaling mechanisms are perturbed.

About Dr. Sahin

Mustafa Sahin received his MD and PhD in neurobiology at the Yale University School of Medicine. He completed an internship at Children's Hospital of Philadelphia and residencies at both Children's Hospital of Philadelphia and Boston Children's Hospital. He has received numerous awards, including a Mentored Clinical Scientist Development Award, a William Randolph Hearst Fund Award, a Spinal Muscular Atrophy Foundation Young Investigator Award, the 2005 Young Investigator Award from the Child Neurology Society and a 2009 John Merck Scholar Award.

Publications

Publications powered by Harvard Catalyst Profiles
  1. Sun Y, Lipton JO, Boyle LM, Madsen JR, Goldenberg MC, Pascual-Leone A, Sahin M, Rotenberg A. Direct current stimulation induces mGluR5-dependent neocortical plasticity. Ann Neurol. 2016 Aug; 80(2):233-46.
  2. Sahin M, Henske EP, Manning BD, Ess KC, Bissler JJ, Klann E, Kwiatkowski DJ, Roberds SL, Silva AJ, Hillaire-Clarke CS, Young LR, Zervas M, Mamounas LA. Advances and Future Directions for Tuberous Sclerosis Complex Research: Recommendations From the 2015 Strategic Planning Conference. Pediatr Neurol. 2016 Jul; 60:1-12.
  3. Pinto A, Sahin M, Pearl PL. Epileptogenesis in neurocutaneous disorders with focus in Sturge Weber syndrome. F1000Res. 2016; 5.
  4. Comi AM, Sahin M, Hammill A, Kaplan EH, Juhász C, North P, Ball KL, Levin AV, Cohen B, Morris J, Lo W, Roach ES. Leveraging a Sturge-Weber Gene Discovery: An Agenda for Future Research. Pediatr Neurol. 2016 May; 58:12-24.
  5. Ozbek M, Gungunes A, Sahin M, Ginis Z, Ucan B, Sayki M, Tutal E, Cakal E, Kuskonmaz SM, Öztürk MA, Delibasi T. Serum heart type fatty acid binding protein levels are not changed in hyperthyroidism. Minerva Endocrinol. 2016 Sep; 41(3):298-301.
  6. Tai DJ, Ragavendran A, Manavalan P, Stortchevoi A, Seabra CM, Erdin S, Collins RL, Blumenthal I, Chen X, Shen Y, Sahin M, Zhang C, Lee C, Gusella JF, Talkowski ME. Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR. Nat Neurosci. 2016 Mar; 19(3):517-22.
  7. Ebrahimi-Fakhari D, Saffari A, Wahlster L, Lu J, Byrne S, Hoffmann GF, Jungbluth H, Sahin M. Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism. Brain. 2016 Feb; 139(Pt 2):317-37.
  8. Gholipour A, Afacan O, Aganj I, Scherrer B, Prabhu SP, Sahin M, Warfield SK. Super-resolution reconstruction in frequency, image, and wavelet domains to reduce through-plane partial voluming in MRI. Med Phys. 2015 Dec; 42(12):6919.
  9. Pinto AL, Chen L, Friedman R, Grant PE, Poduri A, Takeoka M, Prabhu SP, Sahin M. Sturge-Weber Syndrome: Brain Magnetic Resonance Imaging and Neuropathology Findings. Pediatr Neurol. 2016 May; 58:25-30.
  10. Tyburczy ME, Dies KA, Glass J, Camposano S, Chekaluk Y, Thorner AR, Lin L, Krueger D, Franz DN, Thiele EA, Sahin M, Kwiatkowski DJ. Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing. PLoS Genet. 2015 Nov; 11(11):e1005637.
  11. Show all
  12. Sahin M, Sur M. Genes, circuits, and precision therapies for autism and related neurodevelopmental disorders. Science. 2015 Nov 20; 350(6263).
  13. Peters JM, Prohl AK, Tomas-Fernandez XK, Taquet M, Scherrer B, Prabhu SP, Lidov HG, Singh JM, Jansen FE, Braun KP, Sahin M, Warfield SK, Stamm A. Tubers are neither static nor discrete: Evidence from serial diffusion tensor imaging. Neurology. 2015 Nov 3; 85(18):1536-45.
  14. Wu JY, Peters JM, Goyal M, Krueger D, Sahin M, Northrup H, Au KS, Cutter G, Bebin EM. Clinical Electroencephalographic Biomarker for Impending Epilepsy in Asymptomatic Tuberous Sclerosis Complex Infants. Pediatr Neurol. 2016 Jan; 54:29-34.
  15. Scherrer B, Schwartzman A, Taquet M, Sahin M, Prabhu SP, Warfield SK. Characterizing brain tissue by assessment of the distribution of anisotropic microstructural environments in diffusion-compartment imaging (DIAMOND). Magn Reson Med. 2016 Sep; 76(3):963-77.
  16. Sundberg M, Sahin M. Cerebellar Development and Autism Spectrum Disorder in Tuberous Sclerosis Complex. J Child Neurol. 2015 Dec; 30(14):1954-62.
  17. Nie D, Chen Z, Ebrahimi-Fakhari D, Di Nardo A, Julich K, Robson VK, Cheng YC, Woolf CJ, Heiman M, Sahin M. The Stress-Induced Atf3-Gelsolin Cascade Underlies Dendritic Spine Deficits in Neuronal Models of Tuberous Sclerosis Complex. J Neurosci. 2015 Jul 29; 35(30):10762-72.
  18. Wertz MH, Sahin M. Developing therapies for spinal muscular atrophy. Ann N Y Acad Sci. 2016 Feb; 1366(1):5-19.
  19. Kloth AD, Badura A, Li A, Cherskov A, Connolly SG, Giovannucci A, Bangash MA, Grasselli G, Peñagarikano O, Piochon C, Tsai PT, Geschwind DH, Hansel C, Sahin M, Takumi T, Worley PF, Wang SS. Cerebellar associative sensory learning defects in five mouse autism models. Elife. 2015; 4:e06085.
  20. Neul JL, Sahin M. Therapeutic Advances in Autism and Other Neurodevelopmental Disorders. Neurotherapeutics. 2015 Jul; 12(3):519-20.
  21. Davis PE, Peters JM, Krueger DA, Sahin M. Tuberous Sclerosis: A New Frontier in Targeted Treatment of Autism. Neurotherapeutics. 2015 Jul; 12(3):572-83.
  22. Varcin KJ, Nelson CA, Ko J, Sahin M, Wu JY, Jeste SS. Visual Evoked Potentials as a Readout of Cortical Function in Infants With Tuberous Sclerosis Complex. J Child Neurol. 2016 Feb; 31(2):195-202.
  23. Lipton JO, Yuan ED, Boyle LM, Ebrahimi-Fakhari D, Kwiatkowski E, Nathan A, Güttler T, Davis F, Asara JM, Sahin M. The Circadian Protein BMAL1 Regulates Translation in Response to S6K1-Mediated Phosphorylation. Cell. 2015 May 21; 161(5):1138-51.
  24. Ng YT, Gospe SM, Sahin M. Pediatric Neurology 2014 Trainee Publication Award Winner: Dr. Mitchel T. Williams. Pediatr Neurol. 2015 Aug; 53(2):103-4.
  25. DiMario FJ, Sahin M, Ebrahimi-Fakhari D. Tuberous sclerosis complex. Pediatr Clin North Am. 2015 Jun; 62(3):633-48.
  26. Ebrahimi-Fakhari D, Sahin M. Autism and the synapse: emerging mechanisms and mechanism-based therapies. Curr Opin Neurol. 2015 Apr; 28(2):91-102.
  27. Akula JD, Noonan ER, Di Nardo A, Favazza TL, Zhang N, Sahin M, Hansen RM, Fulton AB. Vigabatrin can enhance electroretinographic responses in pigmented and albino rats. Doc Ophthalmol. 2015 Aug; 131(1):1-11.
  28. Im K, Ahtam B, Haehn D, Peters JM, Warfield SK, Sahin M, Ellen Grant P. Altered Structural Brain Networks in Tuberous Sclerosis Complex. Cereb Cortex. 2016 May; 26(5):2046-58.
  29. Baumer FM, Song JW, Mitchell PD, Pienaar R, Sahin M, Grant PE, Takahashi E. Longitudinal changes in diffusion properties in white matter pathways of children with tuberous sclerosis complex. Pediatr Neurol. 2015 Jun; 52(6):615-23.
  30. Dies KA, Sahin M. Genetics of neurocutaneous disorders: basic principles of inheritance as they apply to neurocutaneous syndromes. Handb Clin Neurol. 2015; 132:3-8.
  31. Leech JD, Lammers SH, Goldman S, Auricchio N, Bronson RT, Kwiatkowski DJ, Sahin M. A vascular model of Tsc1 deficiency accelerates renal tumor formation with accompanying hemangiosarcomas. Mol Cancer Res. 2015 Mar; 13(3):548-55.
  32. Lipton JO, Sahin M. The neurology of mTOR. Neuron. 2014 Oct 22; 84(2):275-91.
  33. de Vries PJ, Whittemore VH, Leclezio L, Byars AW, Dunn D, Ess KC, Hook D, King BH, Sahin M, Jansen A. Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND Checklist. Pediatr Neurol. 2015 Jan; 52(1):25-35.
  34. Ebrahimi-Fakhari D, Wahlster L, Sahin M. Parkinson's disease: A disorder of axonal mitophagy? Mov Disord. 2014 Nov; 29(13):1582.
  35. Jamuar SS, Lam AT, Kircher M, D'Gama AM, Wang J, Barry BJ, Zhang X, Hill RS, Partlow JN, Rozzo A, Servattalab S, Mehta BK, Topcu M, Amrom D, Andermann E, Dan B, Parrini E, Guerrini R, Scheffer IE, Berkovic SF, Leventer RJ, Shen Y, Wu BL, Barkovich AJ, Sahin M, Chang BS, Bamshad M, Nickerson DA, Shendure J, Poduri A, Yu TW, Walsh CA. Somatic mutations in cerebral cortical malformations. N Engl J Med. 2014 Aug 21; 371(8):733-43.
  36. Sahin M. Gene therapy for childhood neurological disease. Pediatr Neurol. 2014 Nov; 51(5):595-6.
  37. Greene-Colozzi EA, Sadowski AR, Chadwick E, Tsai PT, Sahin M. Both maternal and pup genotype influence ultrasonic vocalizations and early developmental milestones in tsc2 (+/-) mice. Epilepsy Res Treat. 2014; 2014:784137.
  38. Kye MJ, Niederst ED, Wertz MH, Gonçalves Ido C, Akten B, Dover KZ, Peters M, Riessland M, Neveu P, Wirth B, Kosik KS, Sardi SP, Monani UR, Passini MA, Sahin M. SMN regulates axonal local translation via miR-183/mTOR pathway. Hum Mol Genet. 2014 Dec 1; 23(23):6318-31.
  39. Olson H, Shen Y, Avallone J, Sheidley BR, Pinsky R, Bergin AM, Berry GT, Duffy FH, Eksioglu Y, Harris DJ, Hisama FM, Ho E, Irons M, Jacobsen CM, James P, Kothare S, Khwaja O, Lipton J, Loddenkemper T, Markowitz J, Maski K, Megerian JT, Neilan E, Raffalli PC, Robbins M, Roberts A, Roe E, Rollins C, Sahin M, Sarco D, Schonwald A, Smith SE, Soul J, Stoler JM, Takeoka M, Tan WH, Torres AR, Tsai P, Urion DK, Weissman L, Wolff R, Wu BL, Miller DT, Poduri A. Copy number variation plays an important role in clinical epilepsy. Ann Neurol. 2014 Jun; 75(6):943-58.
  40. Spurling Jeste S, Wu JY, Senturk D, Varcin K, Ko J, McCarthy B, Shimizu C, Dies K, Vogel-Farley V, Sahin M, Nelson CA. Early developmental trajectories associated with ASD in infants with tuberous sclerosis complex. Neurology. 2014 Jul 8; 83(2):160-8.
  41. Kawasaki J, Aegerter S, Fevurly RD, Mammoto A, Mammoto T, Sahin M, Mably JD, Fishman SJ, Chan J. RASA1 functions in EPHB4 signaling pathway to suppress endothelial mTORC1 activity. J Clin Invest. 2014 Jun; 124(6):2774-84.
  42. Clifford MA, Athar W, Leonard CE, Russo A, Sampognaro PJ, Van der Goes MS, Burton DA, Zhao X, Lalchandani RR, Sahin M, Vicini S, Donoghue MJ. EphA7 signaling guides cortical dendritic development and spine maturation. Proc Natl Acad Sci U S A. 2014 Apr 1; 111(13):4994-9.
  43. Di Nardo A, Wertz MH, Kwiatkowski E, Tsai PT, Leech JD, Greene-Colozzi E, Goto J, Dilsiz P, Talos DM, Clish CB, Kwiatkowski DJ, Sahin M. Neuronal Tsc1/2 complex controls autophagy through AMPK-dependent regulation of ULK1. Hum Mol Genet. 2014 Jul 15; 23(14):3865-74.
  44. Kong SW, Sahin M, Collins CD, Wertz MH, Campbell MG, Leech JD, Krueger D, Bear MF, Kunkel LM, Kohane IS. Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis. Mol Autism. 2014; 5(1):16.
  45. Roach ES, Gospe S, Ng YT, Sahin M. Trust but verify: the introduction of plagiarism detection software. Pediatr Neurol. 2014 Apr; 50(4):287.
  46. Jülich K, Sahin M. Mechanism-based treatment in tuberous sclerosis complex. Pediatr Neurol. 2014 Apr; 50(4):290-6.
  47. Taquet M, Scherrer B, Commowick O, Peters JM, Sahin M, Macq B, Warfield SK. A mathematical framework for the registration and analysis of multi-fascicle models for population studies of the brain microstructure. IEEE Trans Med Imaging. 2014 Feb; 33(2):504-17.
  48. Zhang J, Kim J, Alexander A, Cai S, Tripathi DN, Dere R, Tee AR, Tait-Mulder J, Di Nardo A, Han JM, Kwiatkowski E, Dunlop EA, Dodd KM, Folkerth RD, Faust PL, Kastan MB, Sahin M, Walker CL. A tuberous sclerosis complex signalling node at the peroxisome regulates mTORC1 and autophagy in response to ROS. Nat Cell Biol. 2013 Oct; 15(10):1186-96.
  49. Dimitriadi M, Kye MJ, Kalloo G, Yersak JM, Sahin M, Hart AC. The neuroprotective drug riluzole acts via small conductance Ca2+-activated K+ channels to ameliorate defects in spinal muscular atrophy models. J Neurosci. 2013 Apr 10; 33(15):6557-62.
  50. Peters JM, Taquet M, Vega C, Jeste SS, Fernández IS, Tan J, Nelson CA, Sahin M, Warfield SK. Brain functional networks in syndromic and non-syndromic autism: a graph theoretical study of EEG connectivity. BMC Med. 2013; 11:54.
  51. Weisenfeld NI, Peters JM, Tsai PT, Prabhu SP, Dies KA, Sahin M, Warfield SK. A magnetic resonance imaging study of cerebellar volume in tuberous sclerosis complex. Pediatr Neurol. 2013 Feb; 48(2):105-10.
  52. Fogarasi A, Loddenkemper T, Mellado C, Tuxhorn I, Evers G, Sarco D, Burgess RC, Halász P, Barsis P, Gyorsok Z, Gyimesi C, Kóbor J, Siegler Z, Janszky J, Jakus R, Rásonyi G, Ebner A, Woermann FG, Sahin M. Sturge-Weber syndrome: clinical and radiological correlates in 86 patients. Ideggyogy Sz. 2013 Jan 30; 66(1-2):53-7.
  53. Lipton J, Sahin M. Fragile X syndrome therapeutics: translation, meet translational medicine. Neuron. 2013 Jan 23; 77(2):212-3.
  54. Scherrer B, Schwartzman A, Taquet M, Prabhu SP, Sahin M, Akhondi-Asl A, Warfield SK. Characterizing the distribution of anisotropic micro-structural environments with diffusion-weighted imaging (DIAMOND). Med Image Comput Comput Assist Interv. 2013; 16(Pt 3):518-26.
  55. Tsai PT, Greene-Colozzi E, Goto J, Anderl S, Kwiatkowski DJ, Sahin M. Prenatal rapamycin results in early and late behavioral abnormalities in wildtype C57BL/6 mice. Behav Genet. 2013 Jan; 43(1):51-9.
  56. Jeste SS, Hirsch S, Vogel-Farley V, Norona A, Navalta MC, Gregas MC, Prabhu SP, Sahin M, Nelson CA. Atypical face processing in children with tuberous sclerosis complex. J Child Neurol. 2013 Dec; 28(12):1569-76.
  57. Tsai PT, Hull C, Chu Y, Greene-Colozzi E, Sadowski AR, Leech JM, Steinberg J, Crawley JN, Regehr WG, Sahin M. Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice. Nature. 2012 Aug 30; 488(7413):647-51.
  58. Yuan E, Tsai PT, Greene-Colozzi E, Sahin M, Kwiatkowski DJ, Malinowska IA. Graded loss of tuberin in an allelic series of brain models of TSC correlates with survival, and biochemical, histological and behavioral features. Hum Mol Genet. 2012 Oct 1; 21(19):4286-300.
  59. Poduri A, Chopra SS, Neilan EG, Elhosary PC, Kurian MA, Meyer E, Barry BJ, Khwaja OS, Salih MA, Stödberg T, Scheffer IE, Maher ER, Sahin M, Wu BL, Berry GT, Walsh CA, Picker J, Kothare SV. Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy. Epilepsia. 2012 Aug; 53(8):e146-50.
  60. Lewis WW, Sahin M, Scherrer B, Peters JM, Suarez RO, Vogel-Farley VK, Jeste SS, Gregas MC, Prabhu SP, Nelson CA, Warfield SK. Impaired language pathways in tuberous sclerosis complex patients with autism spectrum disorders. Cereb Cortex. 2013 Jul; 23(7):1526-32.
  61. Elmasri H, Ghelfi E, Yu CW, Traphagen S, Cernadas M, Cao H, Shi GP, Plutzky J, Sahin M, Hotamisligil G, Cataltepe S. Endothelial cell-fatty acid binding protein 4 promotes angiogenesis: role of stem cell factor/c-kit pathway. Angiogenesis. 2012 Sep; 15(3):457-68.
  62. Sahin M. Targeted treatment trials for tuberous sclerosis and autism: no longer a dream. Curr Opin Neurobiol. 2012 Oct; 22(5):895-901.
  63. Olson HE, Shen Y, Poduri A, Gorman MP, Dies KA, Robbins M, Hundley R, Wu B, Sahin M. Micro-duplications of 1q32.1 associated with neurodevelopmental delay. Eur J Med Genet. 2012 Feb; 55(2):145-50.
  64. Taquet M, Scherrer B, Commowick O, Peters J, Sahin M, Macq B, Warfield SK. Registration and analysis of white matter group differences with a multi-fiber model. Med Image Comput Comput Assist Interv. 2012; 15(Pt 3):313-20.
  65. Nie D, Sahin M. A genetic model to dissect the role of Tsc-mTORC1 in neuronal cultures. Methods Mol Biol. 2012; 821:393-405.
  66. Peters JM, Sahin M, Vogel-Farley VK, Jeste SS, Nelson CA, Gregas MC, Prabhu SP, Scherrer B, Warfield SK. Loss of white matter microstructural integrity is associated with adverse neurological outcome in tuberous sclerosis complex. Acad Radiol. 2012 Jan; 19(1):17-25.
  67. Khwaja OS, Sahin M. Translational research: Rett syndrome and tuberous sclerosis complex. Curr Opin Pediatr. 2011 Dec; 23(6):633-9.
  68. Goto J, Talos DM, Klein P, Qin W, Chekaluk YI, Anderl S, Malinowska IA, Di Nardo A, Bronson RT, Chan JA, Vinters HV, Kernie SG, Jensen FE, Sahin M, Kwiatkowski DJ. Regulable neural progenitor-specific Tsc1 loss yields giant cells with organellar dysfunction in a model of tuberous sclerosis complex. Proc Natl Acad Sci U S A. 2011 Nov 8; 108(45):E1070-9.
  69. Kramer U, Chi CS, Lin KL, Specchio N, Sahin M, Olson H, Kluger G, van Baalen A. Febrile infection-related epilepsy syndrome (FIRES): does duration of anesthesia affect outcome? Epilepsia. 2011 Oct; 52 Suppl 8:28-30.
  70. Kye MJ, Neveu P, Lee YS, Zhou M, Steen JA, Sahin M, Kosik KS, Silva AJ. NMDA mediated contextual conditioning changes miRNA expression. PLoS One. 2011; 6(9):e24682.
  71. Kramer U, Chi CS, Lin KL, Specchio N, Sahin M, Olson H, Nabbout R, Kluger G, Lin JJ, van Baalen A. Febrile infection-related epilepsy syndrome (FIRES): pathogenesis, treatment, and outcome: a multicenter study on 77 children. Epilepsia. 2011 Nov; 52(11):1956-65.
  72. Akten B, Kye MJ, Hao le T, Wertz MH, Singh S, Nie D, Huang J, Merianda TT, Twiss JL, Beattie CE, Steen JA, Sahin M. Interaction of survival of motor neuron (SMN) and HuD proteins with mRNA cpg15 rescues motor neuron axonal deficits. Proc Natl Acad Sci U S A. 2011 Jun 21; 108(25):10337-42.
  73. Sahin M, Miller I, Holmes GL, Sheth RD. Pediatric epileptology. Epilepsy Behav. 2011 Sep; 22(1):32-7.
  74. Tsai P, Sahin M. Mechanisms of neurocognitive dysfunction and therapeutic considerations in tuberous sclerosis complex. Curr Opin Neurol. 2011 Apr; 24(2):106-13.
  75. Han JM, Sahin M. TSC1/TSC2 signaling in the CNS. FEBS Lett. 2011 Apr 6; 585(7):973-80.
  76. Zou T, Yang X, Pan D, Huang J, Sahin M, Zhou J. SMN deficiency reduces cellular ability to form stress granules, sensitizing cells to stress. Cell Mol Neurobiol. 2011 May; 31(4):541-50.
  77. Neveu P, Kye MJ, Qi S, Buchholz DE, Clegg DO, Sahin M, Park IH, Kim KS, Daley GQ, Kornblum HI, Shraiman BI, Kosik KS. MicroRNA profiling reveals two distinct p53-related human pluripotent stem cell states. Cell Stem Cell. 2010 Dec 3; 7(6):671-81.
  78. Ehninger D, Sano Y, de Vries PJ, Dies K, Franz D, Geschwind DH, Kaur M, Lee YS, Li W, Lowe JK, Nakagawa JA, Sahin M, Smith K, Whittemore V, Silva AJ. Gestational immune activation and Tsc2 haploinsufficiency cooperate to disrupt fetal survival and may perturb social behavior in adult mice. Mol Psychiatry. 2012 Jan; 17(1):62-70.
  79. Margolis SS, Salogiannis J, Lipton DM, Mandel-Brehm C, Wills ZP, Mardinly AR, Hu L, Greer PL, Bikoff JB, Ho HY, Soskis MJ, Sahin M, Greenberg ME. EphB-mediated degradation of the RhoA GEF Ephexin5 relieves a developmental brake on excitatory synapse formation. Cell. 2010 Oct 29; 143(3):442-55.
  80. Sahin M. Eph receptor and mTOR pathway crosstalk: implications for cancer. Cell Cycle. 2010 Jun 1; 9(11):2053-4.
  81. Alexander A, Cai SL, Kim J, Nanez A, Sahin M, MacLean KH, Inoki K, Guan KL, Shen J, Person MD, Kusewitt D, Mills GB, Kastan MB, Walker CL. ATM signals to TSC2 in the cytoplasm to regulate mTORC1 in response to ROS. Proc Natl Acad Sci U S A. 2010 Mar 2; 107(9):4153-8.
  82. Krishnan ML, Commowick O, Jeste SS, Weisenfeld N, Hans A, Gregas MC, Sahin M, Warfield SK. Diffusion features of white matter in tuberous sclerosis with tractography. Pediatr Neurol. 2010 Feb; 42(2):101-6.
  83. Nie D, Di Nardo A, Han JM, Baharanyi H, Kramvis I, Huynh T, Dabora S, Codeluppi S, Pandolfi PP, Pasquale EB, Sahin M. Tsc2-Rheb signaling regulates EphA-mediated axon guidance. Nat Neurosci. 2010 Feb; 13(2):163-72.
  84. Gholipour A, Estroff JA, Sahin M, Prabhu SP, Warfield SK. Maximum a posteriori estimation of isotropic high-resolution volumetric MRI from orthogonal thick-slice scans. Med Image Comput Comput Assist Interv. 2010; 13(Pt 2):109-16.
  85. Poduri A, Chitsazzadeh V, D'Arrigo S, Fedrizzi E, Pantaleoni C, Riva D, Busse C, Küster H, Duplessis A, Gaitanis J, Sahin M, Garganta C, Topcu M, Dies KA, Barry BJ, Partlow J, Barkovich AJ, Walsh CA, Chang BS. The syndrome of perisylvian polymicrogyria with congenital arthrogryposis. Brain Dev. 2010 Aug; 32(7):550-5.
  86. Ullner PM, Di Nardo A, Goldman JE, Schobel S, Yang H, Engelstad K, Wang D, Sahin M, De Vivo DC. Murine Glut-1 transporter haploinsufficiency: postnatal deceleration of brain weight and reactive astrocytosis. Neurobiol Dis. 2009 Oct; 36(1):60-9.
  87. Di Nardo A, Kramvis I, Cho N, Sadowski A, Meikle L, Kwiatkowski DJ, Sahin M. Tuberous sclerosis complex activity is required to control neuronal stress responses in an mTOR-dependent manner. J Neurosci. 2009 May 6; 29(18):5926-37.
  88. Park KK, Liu K, Hu Y, Smith PD, Wang C, Cai B, Xu B, Connolly L, Kramvis I, Sahin M, He Z. Promoting axon regeneration in the adult CNS by modulation of the PTEN/mTOR pathway. Science. 2008 Nov 7; 322(5903):963-6.
  89. Choi YJ, Di Nardo A, Kramvis I, Meikle L, Kwiatkowski DJ, Sahin M, He X. Tuberous sclerosis complex proteins control axon formation. Genes Dev. 2008 Sep 15; 22(18):2485-95.
  90. Miyake N, Chilton J, Psatha M, Cheng L, Andrews C, Chan WM, Law K, Crosier M, Lindsay S, Cheung M, Allen J, Gutowski NJ, Ellard S, Young E, Iannaccone A, Appukuttan B, Stout JT, Christiansen S, Ciccarelli ML, Baldi A, Campioni M, Zenteno JC, Davenport D, Mariani LE, Sahin M, Guthrie S, Engle EC. Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. Science. 2008 Aug 8; 321(5890):839-43.
  91. Meikle L, Pollizzi K, Egnor A, Kramvis I, Lane H, Sahin M, Kwiatkowski DJ. 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. J Neurosci. 2008 May 21; 28(21):5422-32.
  92. Ozcan U, Ozcan L, Yilmaz E, Düvel K, Sahin M, Manning BD, Hotamisligil GS. Loss of the tuberous sclerosis complex tumor suppressors triggers the unfolded protein response to regulate insulin signaling and apoptosis. Mol Cell. 2008 Mar 14; 29(5):541-51.
  93. Datta AN, Hahn CD, Sahin M. Clinical presentation and diagnosis of tuberous sclerosis complex in infancy. J Child Neurol. 2008 Mar; 23(3):268-73.
  94. Jeste SS, Sahin M, Bolton P, Ploubidis GB, Humphrey A. Characterization of autism in young children with tuberous sclerosis complex. J Child Neurol. 2008 May; 23(5):520-5.
  95. Jozwiak J, Sahin M, Jozwiak S, Kotulska K, Ploski R, Szperl M, Wlodarski PK. Cardiac rhabdomyoma in tuberous sclerosis: hyperactive Erk signaling. Int J Cardiol. 2009 Feb 6; 132(1):145-7.
  96. Kotulska K, Larysz-Brysz M, Grajkowska W, Józwiak J, Wlodarski P, Sahin M, Lewin-Kowalik J, Domanska-Pakiela D, Józwiak S. Cardiac rhabdomyomas in tuberous sclerosis complex show apoptosis regulation and mTOR pathway abnormalities. Pediatr Dev Pathol. 2009 Mar-Apr; 12(2):89-95.
  97. Meikle L, Talos DM, Onda H, Pollizzi K, Rotenberg A, Sahin M, Jensen FE, Kwiatkowski DJ. A mouse model of tuberous sclerosis: neuronal loss of Tsc1 causes dysplastic and ectopic neurons, reduced myelination, seizure activity, and limited survival. J Neurosci. 2007 May 23; 27(21):5546-58.
  98. Raju GP, Urion DK, Sahin M. Neonatal subependymal giant cell astrocytoma: new case and review of literature. Pediatr Neurol. 2007 Feb; 36(2):128-31.
  99. Fu WY, Chen Y, Sahin M, Zhao XS, Shi L, Bikoff JB, Lai KO, Yung WH, Fu AK, Greenberg ME, Ip NY. Cdk5 regulates EphA4-mediated dendritic spine retraction through an ephexin1-dependent mechanism. Nat Neurosci. 2007 Jan; 10(1):67-76.
  100. Zhang HH, Lipovsky AI, Dibble CC, Sahin M, Manning BD. S6K1 regulates GSK3 under conditions of mTOR-dependent feedback inhibition of Akt. Mol Cell. 2006 Oct 20; 24(2):185-97.
  101. Neal J, Apse K, Sahin M, Walsh CA, Sheen VL. Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia. Am J Med Genet A. 2006 Aug 1; 140(15):1692-5.
  102. Sahin M, Sengul A, Berki Z, Tutuncu NB, Guvener ND. Ultrasound-guided fine-needle aspiration biopsy and ultrasonographic features of infracentimetric nodules in patients with nodular goiter: correlation with pathological findings. Endocr Pathol. 2006; 17(1):67-74.
  103. Egea J, Nissen UV, Dufour A, Sahin M, Greer P, Kullander K, Mrsic-Flogel TD, Greenberg ME, Kiehn O, Vanderhaeghen P, Klein R. Regulation of EphA 4 kinase activity is required for a subset of axon guidance decisions suggesting a key role for receptor clustering in Eph function. Neuron. 2005 Aug 18; 47(4):515-28.
  104. Sahin M, Greer PL, Lin MZ, Poucher H, Eberhart J, Schmidt S, Wright TM, Shamah SM, O'connell S, Cowan CW, Hu L, Goldberg JL, Debant A, Corfas G, Krull CE, Greenberg ME. Eph-dependent tyrosine phosphorylation of ephexin1 modulates growth cone collapse. Neuron. 2005 Apr 21; 46(2):191-204.
  105. Cowan CW, Shao YR, Sahin M, Shamah SM, Lin MZ, Greer PL, Gao S, Griffith EC, Brugge JS, Greenberg ME. Vav family GEFs link activated Ephs to endocytosis and axon guidance. Neuron. 2005 Apr 21; 46(2):205-17.
  106. Frye RE, Newburger JW, Nugent A, Sahin M. Focal seizure and cerebral contrast retention after cardiac catheterization. Pediatr Neurol. 2005 Mar; 32(3):213-6.
  107. Sahin M, Menache CC, Holmes GL, Riviello JJ. Prolonged treatment for acute symptomatic refractory status epilepticus: outcome in children. Neurology. 2003 Aug 12; 61(3):398-401.
  108. Sahin M, Menache CC, Holmes GL, Riviello JJ. Outcome of severe refractory status epilepticus in children. Epilepsia. 2001 Nov; 42(11):1461-7.
  109. Shamah SM, Lin MZ, Goldberg JL, Estrach S, Sahin M, Hu L, Bazalakova M, Neve RL, Corfas G, Debant A, Greenberg ME. EphA receptors regulate growth cone dynamics through the novel guanine nucleotide exchange factor ephexin. Cell. 2001 Apr 20; 105(2):233-44.
  110. Sahin M, Riviello JJ. Prolonged treatment of refractory status epilepticus in a child. J Child Neurol. 2001 Feb; 16(2):147-50.
  111. Benatar MG, Sahin M, Davis RG. Antiepileptic drug-induced visual hallucinations in a child. Pediatr Neurol. 2000 Nov; 23(5):439-41.
  112. Sahin M, du Plessis AJ. Hydrocephalus associated with glycogen storage disease type II (Pompe's disease). Pediatr Neurol. 1999 Sep; 21(3):674-6.
  113. Bellefroid EJ, Sahin M, Poncelet DA, Rivière M, Bourguignon C, Martial JA, Morris PL, Pieler T, Szpirer C, Ward DC. Kzf1 - a novel KRAB zinc finger protein encoding gene expressed during rat spermatogenesis. Biochim Biophys Acta. 1998 Jul 9; 1398(3):321-9.
  114. Sahin M, Slaugenhaupt SA, Gusella JF, Hockfield S. Expression of PTPH1, a rat protein tyrosine phosphatase, is restricted to the derivatives of a specific diencephalic segment. Proc Natl Acad Sci U S A. 1995 Aug 15; 92(17):7859-63.
  115. Sahin M, Dowling JJ, Hockfield S. Seven protein tyrosine phosphatases are differentially expressed in the developing rat brain. J Comp Neurol. 1995 Jan 23; 351(4):617-31.
  116. Sahin M, Hockfield S. Protein tyrosine phosphatases expressed in the developing rat brain. J Neurosci. 1993 Nov; 13(11):4968-78.
  117. Sahin M, Bowen WD, Donoghue JP. Location of nicotinic and muscarinic cholinergic and mu-opiate receptors in rat cerebral neocortex: evidence from thalamic and cortical lesions. Brain Res. 1992 May 1; 579(1):135-47.
  118. Sahin M, Hockfield S. Molecular identification of the Lugaro cell in the cat cerebellar cortex. J Comp Neurol. 1990 Nov 22; 301(4):575-84.
LIke ThisLIke ThisLIke This

RELATED RESEARCH CENTER

F.M. Kirby Neurobiology Center

The F.M. Kirby Neurobiology Center, together with the Neurobiology Program at Boston Children’s Hospital, is the largest basic neuroscience research enterprise at a U.S. hospital. It incorporates basic and translational neuroscience research, focusing primarily on developmental neurobiology.

Learn more
Close