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- Mustafa Sahin MD, PhD
- Associate Professor
- mustafa.sahin@childrens.harvard.edu
- Tel 617-919-4518
- Fax 617-730-0279
- 300 Longwood Ave CLS 13074
- Boston MA 02115
Publications
- . Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice. Nature. 2012
- . Graded Loss of Tuberin in an Allelic Series of Brain Models of TSC Correlates with Survival, and Biochemical, Histological, and Behavioral Features. Human molecular genetics. 2012
- . A genetic model to dissect the role of Tsc-mTORC1 in neuronal cultures. Methods in molecular biology (Clifton, N.J.). 2012
- . Impaired Language Pathways in Tuberous Sclerosis Complex Patients with Autism Spectrum Disorders. Cereb Cortex. 2011
- . Targeted treatment trials for tuberous sclerosis and autism: no longer a dream. Curr Opin Neurobiol. 2011
- . Loss of white matter microstructural integrity is associated with adverse neurological outcome in tuberous sclerosis complex. Acad Radiol. 2011
- . Translational research: Rett syndrome and tuberous sclerosis complex. Current opinion in pediatrics. 2011
- . Regulable neural progenitor-specific Tsc1 loss yields giant cells with organellar dysfunction in a model of tuberous sclerosis complex. Proceedings of the National Academy of Sciences of the United States of America. 2011
- . TSC1/TSC2 Signaling in the CNS. FEBS Lett. 2011
- . Mechanisms of neurocognitive dysfunction and therapeutic considerations in tuberous sclerosis complex. Curr Opin Neurol. 2011
- . SMN Deficiency Reduces Cellular Ability to Form Stress Granules, Sensitizing Cells to Stress. Cell Mol Neurobiol. 2011
- . 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. 2010
- . Diffusion Features of White Matter in Tuberous Sclerosis With Tractography. Pediatr Neurol. 2010
- . Tsc2-Rheb signaling regulates EphA-mediated axon guidance. Nat Neurosci. 2010
- . The syndrome of perisylvian polymicrogyria with congenital arthrogryposis. Brain Dev. 2009
- . Tuberous sclerosis complex activity is required to control neuronal stress responses in an mTOR-dependent manner. J Neurosci. 2009
- . Tuberous sclerosis complex proteins control axon formation. Genes Dev. 2008
- . Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. Science. 2008
- . 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
- . Loss of the tuberous sclerosis complex tumor suppressors triggers the unfolded protein response to regulate insulin signaling and apoptosis. Mol Cell. 2008
- . Clinical presentation and diagnosis of tuberous sclerosis complex in infancy. J Child Neurol. 2008
- . Promoting axon regeneration in the adult CNS by modulation of the PTEN/mTOR pathway. Science. 2007
- . Characterization of autism in young children with tuberous sclerosis complex. J Child Neurol. 2007
- . Neonatal subependymal giant cell astrocytoma: new case and review of literature. Pediatr Neurol. 2007
- . S6K1 regulates GSK3 under conditions of mTOR-dependent feedback inhibition of Akt. Mol Cell. 2006
- . Eph-dependent tyrosine phosphorylation of ephexin1 modulates growth cone collapse. Neuron. 2005