S
Sebahattin Cirak
Researcher at Children's National Medical Center
Publications - 74
Citations - 4704
Sebahattin Cirak is an academic researcher from Children's National Medical Center. The author has contributed to research in topics: Duchenne muscular dystrophy & Muscular dystrophy. The author has an hindex of 29, co-authored 68 publications receiving 4279 citations. Previous affiliations of Sebahattin Cirak include Boston Children's Hospital & University College London.
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Journal ArticleDOI
Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study.
Sebahattin Cirak,Virginia Arechavala-Gomeza,Michela Guglieri,Lucy Feng,Silvia Torelli,Karen Anthony,Stephen Abbs,M. E. Garralda,John P. Bourke,Dominic J. Wells,George Dickson,Matthew J.A. Wood,Steve D. Wilton,Volker Straub,Ryszard Kole,Stephen B. Shrewsbury,Caroline Sewry,Jennifer E. Morgan,Kate Bushby,Francesco Muntoni +19 more
TL;DR: The safety and biochemical efficacy presented show the potential of AVI-4658 to become a disease-modifying drug for Duchenne muscular dystrophy.
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Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study
Maria Kinali,Maria Kinali,Virginia Arechavala-Gomeza,Lucy Feng,Sebahattin Cirak,D. Hunt,C. Adkin,Michela Guglieri,Emma J. Ashton,Stephen Abbs,Petros Nihoyannopoulos,M. E. Garralda,Mary A. Rutherford,Caroline McCulley,Linda Popplewell,Linda Popplewell,Ian R. Graham,Ian R. Graham,George Dickson,George Dickson,Matthew J.A. Wood,Dominic J. Wells,Steve D. Wilton,Ryszard Kole,Volker Straub,Kate Bushby,Caroline Sewry,Jennifer E. Morgan,Francesco Muntoni,Francesco Muntoni +29 more
TL;DR: A single-blind, placebo-controlled, dose-escalation study in patients with Duchenne muscular dystrophy to assess the safety and biochemical efficacy of an intramuscular morpholino splice-switching oligonucleotide (AVI-4658) that skips exon 51 in dystrophin mRNA.
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Mutations in NSUN2 cause autosomal-recessive intellectual disability
Lia Abbasi-Moheb,Sara Mertel,Melanie Gonsior,Leyla Nouri-Vahid,Kimia Kahrizi,Sebahattin Cirak,Dagmar Wieczorek,M. Mahdi Motazacker,Sahar Esmaeeli-Nieh,Kirsten Cremer,Robert Weißmann,Andreas Tzschach,Masoud Garshasbi,Seyedeh Sedigheh Abedini,Hossein Najmabadi,Hans-Hilger Ropers,Stephan J. Sigrist,Stephan J. Sigrist,Andreas W. Kuss +18 more
TL;DR: The observations from the Drosophila model point toward an evolutionarily conserved role of RNA methylation in normal cognitive development, suggesting that mutations in this gene might even induce a syndromic form of ID.
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ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome
Tobias Willer,Hane Lee,Mark Lommel,Takako Yoshida-Moriguchi,Daniel Beltrán-Valero de Bernabé,David Venzke,Sebahattin Cirak,Harry Schachter,Jiri Vajsar,Thomas Voit,Francesco Muntoni,Andrea S Loder,William B. Dobyns,Thomas L. Winder,Sabine Strahl,Katherine D. Mathews,Stanley F. Nelson,Steven A. Moore,Kevin P. Campbell +18 more
TL;DR: It is shown that recessive mutations in ISPD abolish the initial step in laminin-binding glycan synthesis by disrupting dystroglycan O-mannosylation, establishing a new mechanism for WWS pathophysiology.
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A Homozygous Mutation in Human PRICKLE1 Causes an Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome
Alexander G. Bassuk,Robyn H. Wallace,Aimee Buhr,Andrew R. Buller,Zaid Afawi,Masahito Shimojo,Shingo Miyata,Shan Chen,Pedro Gonzalez-Alegre,Hilary L. Griesbach,Shu Wu,Marcus B. Nashelsky,Eszter K. Vladar,Dragana Antic,Polly J. Ferguson,Sebahattin Cirak,Thomas Voit,Matthew P. Scott,Jeffrey D. Axelrod,Christina A. Gurnett,Azhar S. Daoud,Sara Kivity,Miriam Y. Neufeld,Aziz Mazarib,Rachel Straussberg,Simri Walid,Amos D. Korczyn,Diane C. Slusarski,Samuel F. Berkovic,Hatem El-Shanti,Hatem El-Shanti +30 more
TL;DR: A mutation in PRICKLE1 is identified (also known as RILP for REST/NRSF interacting LIM domain protein) in all three of these pedigrees of individuals with PME and ataxia, and is the first molecule in the noncanonical WNT signaling pathway to be directly implicated in human epilepsy.