AmeyaShirishWalimbeMDPhD

PubMed

• Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report.
  Ameya S Walimbe, Keren Machol, Stephen F Kralik, Elizabeth A Mizerik, Yoel Gofin, Mir Reza Bekheirnia, Charul Gijavanekar, Sarah H Elsea, Lisa T Emrick, Fernando Scaglia> ;BMC Neurology. 2024 Mar 4
• 1 citations
  Identification of a short, single site matriglycan that maintains neuromuscular function in the mouse.
  Yang, T., Chandel, I., Gonzales, M., Okuma, H., Prouty, S., Joseph, S., Garringer, K., Yonekawa, T., Venzke, D., Anderson, M., Hord, J., Campbell, K., Landa, S., Zarei...> ;Biorxiv. 2023 Dec 21
• 3 citations
  N-terminal domain on dystroglycan enables LARGE1 to extend matriglycan on α-dystroglycan and prevents muscular dystrophy.
  Hidehiko Okuma, Jeffrey M Hord, Ishita Chandel, David Venzke, Mary E Anderson, Ameya S Walimbe, Soumya Joseph, Zeita Gastel, Yuji Hara, Fumiaki Saito, Kiichiro Matsumu...> ;Elife. 2023 Feb 1
• 12 citations
  POMK regulates dystroglycan function via LARGE1-mediated elongation of matriglycan.
  Ameya S Walimbe, Hidehiko Okuma, Soumya Joseph, Tiandi Yang, Takahiro Yonekawa, Jeffrey M. Hord, David Venzke, Mary E. Anderson, Silvia Torelli, Adnan Y. Manzur, Megan...> ;Elife. 2020 Sep 25
• 26 citations
  Structure of protein O-mannose kinase reveals a unique active site architecture
  Qinyu Zhu, David Venzke, Ameya S Walimbe, Mary E. Anderson, Qiuyu Fu, Lisa N. Kinch, Wei Wang, Xing Chen, Nick V. Grishin, Niu Huang, Liping Yu, Jack E. Dixon, Kevin P...> ;Elife. 2016 Nov 23
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