C
Cynthia P. Hsu
Researcher at Boston Children's Hospital
Publications - 4
Citations - 271
Cynthia P. Hsu is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Myotubularin & Compound heterozygosity. The author has an hindex of 3, co-authored 4 publications receiving 242 citations.
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Journal ArticleDOI
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy
Vandana Gupta,Gianina Ravenscroft,Ranad Shaheen,Emily J. Todd,Lindsay C. Swanson,Masaaki Shiina,Kazuhiro Ogata,Cynthia P. Hsu,Nigel F. Clarke,Basil T. Darras,Michelle A. Farrar,Amal M. Hashem,Nicholas Manton,Francesco Muntoni,Kathryn N. North,Sarah A. Sandaradura,Ichizo Nishino,Yukiko K. Hayashi,Caroline Sewry,Elizabeth Thompson,Elizabeth Thompson,Kyle S. Yau,Catherine A. Brownstein,Timothy W. Yu,Richard J.N. Allcock,Mark R. Davis,Carina Wallgren-Pettersson,Naomichi Matsumoto,Fowzan S. Alkuraya,Nigel G. Laing,Alan H. Beggs +30 more
TL;DR: These studies expand the genetic heterogeneity of NM and implicate a critical role of BTB-Kelch family members in maintenance of sarcomeric integrity in NM.
Journal ArticleDOI
Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy
Michael W. Lawlor,Dustin D. Armstrong,Marissa G. Viola,Jeffrey J. Widrick,Jeffrey J. Widrick,Hui Meng,Robert W. Grange,Martin K. Childers,Cynthia P. Hsu,Michael O'callaghan,Christopher R. Pierson,Anna Buj-Bello,Alan H. Beggs +12 more
TL;DR: It is suggested that even low levels of myotubularin protein replacement can improve the muscle weakness and reverse the pathology that characterizes XLMTM.
Journal ArticleDOI
Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment.
Michael W. Lawlor,Michael W. Lawlor,Matthew S. Alexander,Marissa G. Viola,Hui Meng,R. Joubert,Vandana Gupta,Norio Motohashi,Richard A. Manfready,Cynthia P. Hsu,Ping Huang,Anna Buj-Bello,Louis M. Kunkel,Alan H. Beggs,Emanuela Gussoni +14 more
TL;DR: These studies demonstrate specific abnormalities in myogenic cell number and behavior that may relate to the progression of disease in myotubularin deficiency, and may also be used to develop in vitro assays by which novel treatment strategies can be assessed.
Journal ArticleDOI
Sarcomeric and nonmuscle α-actinin isoforms exhibit differential dynamics at skeletal muscle Z-lines.
TL;DR: Findings demonstrate that α‐actinin isoforms are unique in binding dynamics at the Z‐line and suggest differentially evolved interactive and Z‐ line association capabilities of each functional domain.