Ethan M. Scott
Boston Children's Hospital
6 Papers
Ethan M. Scott is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Medicine & Internal medicine. The author has an hindex of 1, co-authored 1 publications.
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Papers
Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier.
Lauren E. Bowser,Millie Young,Olivia Wenger,Zineb Ammous,Karlla W. Brigatti,Vincent J Carson,Teresa Moser,James Deline,Kazuhiro Aoki,Thierry Morlet,Ethan M. Scott,Erik G. Puffenberger,Donna L. Robinson,Christine Hendrickson,Jonathan Salvin,Steven Gottlieb,Adam D. Heaps,Michael Tiemeyer,Kevin A. Strauss +18 more
TL;DR: These observations corroborate findings from transgenic mice which indicate that gangliosides might have a limited role in embryonic neurodevelopment but become vital for postnatal brain growth and function and have critical implications for the design and implementation ofganglioside restitution therapies.
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Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes.
Maria O. Levitin,Lettie E. Rawlins,Gabriela Sánchez-Andrade,Osama A. Arshad,Stephan C. Collins,Stephen J. Sawiak,Phillip H. Iffland,Malin Andersson,Caleb Bupp,Emma L. Cambridge,Eve L. Coomber,Ian O. Ellis,Johanna C. Herkert,Holly V. Ironfield,Logan Jory,Perrine F. Kretz,Sarina G. Kant,Alexandra Neaverson,Esther A. R. Nibbeling,Christine R. Rowley,Emily Relton,Mark Sanderson,Ethan M. Scott,Helen Stewart,Andrew Y Shuen,John M. Schreiber,Liz Tuck,James Tonks,Thorkild Terkelsen,Conny M. A. van Ravenswaaij-Arts,Pradeep C. Vasudevan,Olivia Wenger,Michael Wright,Andrew T. Day,A. Hunter,Minal Patel,Christopher J. Lelliott,Peter B. Crino,Binnaz Yalcin,Andrew H. Crosby,Emma L. Baple,Darren W. Logan,Matthew E. Hurles,Sebastian S. Gerety +43 more
- 12 Jul 2023
TL;DR: In this article , the authors analyzed mouse knockout and human stem cell KPTN loss-of-function models to gain further insights into the pathogenesis of kPTN-related disorder, including brain overgrowth, behavioural abnormalities, and cognitive deficits.
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Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation.
Zain Dardas,L. Harrold,Daniel G. Calame,Claire G. Salter,Takashi Kikuma,Kevin Patrick Guay,Bobby G. Ng,Kanae Sano,Ahmad K. Saad,Haowei Du,Riccardo Sangermano,Sohil G. Patankar,Shalini N. Jhangiani,Semra Gürsoy,Mohamed S Abdel-Hamid,Mahmoud K.H. Ahmed,Reza Maroofian,Rauan Kaiyrzhanov,Kamran Ali Salayev,W. Jones,Ana Pérez Caballero,Lucy Mcgavin,Michael Spiller,Miranda Durkie,Nick Wood,Lauren O’Grady,Paula Goldenberg,Ann M. Neumeyer,Amber Begtrup,S. Abdel-Ghafar,Maha S. Zaki,Hilde Van Esch,Jennifer E. Posey,Olivia Wenger,Ethan M. Scott,Kinga M. Bujakowska,Richard A. Gibbs,Davut Pehlivan,Dana Marafi,Joseph S Leslie,Nishanka Ubeyratna,Jacob Day,Martina Owens,Jessica Settle,Soher Balkhy,Abdullah Tamim,Lama AlAbdi,F. Alkuraya,Yoichi Takeda,Hudson H. Freeze,Daniel N Hebert,J. Lupski,Andrew H. Crosby,Emma L. Baple +53 more
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Glycogen storage disease type 1a in the Ohio Amish
Ethan M. Scott,Olivia Wenger,Elizabeth A. R. Robinson,Kristina Colling,Miraides Brown,Jennifer Hershberger,Kadakkal Radhakrishnan +6 more
TL;DR: The phenotype of this cohort demonstrated good metabolic control with median cohort triglyceride level slightly above normal, no need for continuous overnight feeds, and a higher quality of life compared to a previous GSD cohort, and the most frequent complications were oral aversion, gross motor delay, and renal hyperfiltration.
Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities.
Joseph S Leslie,Rim Hjeij,Asaf Vivante,Elizabeth A. Bearce,Laura Dyer,Jiaolong Wang,Lettie E. Rawlins,Joanna S. Kennedy,Nishanka Ubeyratna,James Fasham,Zoe H. Irons,Samuel B Craig,J. Koenig,Sebastian George,Ben Pode-Shakked,Yoav Bolkier,Ortal Barel,Shrikant M. Mane,Kathrine K Frederiksen,Olivia Wenger,Ethan M. Scott,Harold E. Cross,Esben Lorentzen,Dominic P. Norris,Yair Anikster,Heymut Omran,Daniel T. Grimes,Andrew H. Crosby,Emma L. Baple +28 more
TL;DR: In this paper , biallelic DAW1 variants associated with laterality defects and respiratory symptoms compatible with motile cilia dysfunction were identified and determined that the disease mechanism involves motile Cilia dysfunction, explaining the ciliary beating defects observed in affected individuals.