Haploinsufficiency of the lysosomal sialidase NEU1 results in a model of pleomorphic rhabdomyosarcoma in mice

Eda R. Machado; Diantha van de Vlekkert; Heather S. Sheppard; Scott Perry; Susanna M. Downing; Jonathan Laxton; Richard Ashmun; David B. Finkelstein; Geoffrey A. Neale; Huimin Hu; Frank C. Harwood; Selene C. Koo; Gerard C. Grosveld; Alessandra d’Azzo

doi:10.1038/s42003-022-03968-8

Communications Biology (Sep 2022)

Haploinsufficiency of the lysosomal sialidase NEU1 results in a model of pleomorphic rhabdomyosarcoma in mice

Eda R. Machado,
Diantha van de Vlekkert,
Heather S. Sheppard,
Scott Perry,
Susanna M. Downing,
Jonathan Laxton,
Richard Ashmun,
David B. Finkelstein,
Geoffrey A. Neale,
Huimin Hu,
Frank C. Harwood,
Selene C. Koo,
Gerard C. Grosveld,
Alessandra d’Azzo

Affiliations

Eda R. Machado: Department of Genetics, St. Jude Children’s Research Hospital
Diantha van de Vlekkert: Department of Genetics, St. Jude Children’s Research Hospital
Heather S. Sheppard: Department of Pathology, St. Jude Children’s Research Hospital
Scott Perry: Flow Cytometry Core Facility, St. Jude Children’s Research Hospital
Susanna M. Downing: Department of Cell & Molecular Biology, St. Jude Children’s Research Hospital
Jonathan Laxton: Flow Cytometry Core Facility, St. Jude Children’s Research Hospital
Richard Ashmun: Flow Cytometry Core Facility, St. Jude Children’s Research Hospital
David B. Finkelstein: Department of Computational Biology, St. Jude Children’s Research Hospital
Geoffrey A. Neale: Hartwell Center for Bioinformatics and Biotechnology, St. Jude Children’s Research Hospital
Huimin Hu: Department of Genetics, St. Jude Children’s Research Hospital
Frank C. Harwood: Department of Genetics, St. Jude Children’s Research Hospital
Selene C. Koo: Department of Pathology, St. Jude Children’s Research Hospital
Gerard C. Grosveld: Department of Genetics, St. Jude Children’s Research Hospital
Alessandra d’Azzo: Department of Genetics, St. Jude Children’s Research Hospital

DOI: https://doi.org/10.1038/s42003-022-03968-8
Journal volume & issue: Vol. 5, no. 1
pp. 1 – 16

Abstract

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A mouse model of pleomorphic rhabdomyosarcoma, an aggressive and treatment-resistant form of pediatric sarcoma, provides an ideal tool for future diagnostic and therapeutic studies.

Published in Communications Biology

ISSN: 2399-3642 (Online)
Publisher: Nature Portfolio
Country of publisher: United Kingdom
LCC subjects: Science: Biology (General)
Website: https://www.nature.com/commsbio/

About the journal