Ontology highlight
ABSTRACT:
SUBMITTER: Mueller AL
PROVIDER: S-EPMC6730665 | biostudies-literature | 2019 Oct
REPOSITORIES: biostudies-literature
Mueller Amber L AL O'Neill Andrea A Jones Takako I TI Llach Anna A Rojas Luis Alejandro LA Sakellariou Paraskevi P Stadler Guido G Wright Woodring E WE Eyerman David D Jones Peter L PL Bloch Robert J RJ
Experimental neurology 20190712
Aberrant expression of DUX4, a gene unique to humans and primates, causes Facioscapulohumeral Muscular Dystrophy-1 (FSHD), yet the pathogenic mechanism is unknown. As transgenic overexpression models have largely failed to replicate the genetic changes seen in FSHD, many studies of endogenously expressed DUX4 have been limited to patient biopsies and myogenic cell cultures, which never fully differentiate into mature muscle fibers. We have developed a method to xenograft immortalized human muscl ...[more]