TY - JOUR
AU1 - Larson, Austin
AU2 - Baker, Peter
AU3 - Milev, Miroslav
AU4 - Press, Craig
AU5 - Sokol, Ronald
AU6 - Cox, Mary
AU7 - Lekostaj, Jacqueline
AU8 - Stence, Aaron
AU9 - Bossler, Aaron
AU1 - Mueller, Jennifer
AU1 - Prematilake, Keshika
AU1 - Tadjo, Thierry
AU1 - Williams, Charles
AU1 - Sacher, Michael
AU1 - Moore, Steven
AB - Background: Transport protein particle (TRAPP) is a supramolecular protein complex that functions in localizing proteins to the Golgi compartment. The TRAPPC11 subunit has been implicated in muscle disease by virtue of homozygous and compound heterozygous deleterious mutations being identified in individuals with limb girdle muscular dystrophy and congenital muscular dystrophy. It remains unclear how this protein leads to muscle disease. Furthermore, a role for this protein, or any other membrane trafficking protein, in the etiology of the dystroglycanopathy group of muscular dystrophies has yet to be found. Here, using a multidisciplinary approach including genetics, immunofluorescence, western blotting, and live cell analysis, we implicate both TRAPPC11 and another membrane trafficking protein, GOSR2, in α-dystroglycan hypoglycosylation. Case presentation: Subject 1 presented with severe epileptic episodes and subsequent developmental deterioration. Upon clinical evaluation she was found to have brain, eye, and liver abnormalities. Her serum aminotransferases and creatine kinase were abnormally high. Subjects 2 and 3 are siblings from a family unrelated to subject 1. Both siblings displayed hypotonia, muscle weakness, low muscle bulk, and elevated creatine kinase levels. Subject 3 also developed a seizure disorder. Muscle biopsies from subjects 1 and 3 were severely dystrophic with abnormal immunofluorescence and western blotting 
TI - TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy
JF - Skeletal Muscle
DO - 10.1186/s13395-018-0163-0
DA - 2018-05-31
UR - https://www.deepdyve.com/lp/springer-journals/trappc11-and-gosr2-mutations-associate-with-hypoglycosylation-of-h62RmQ9kaa
SP - 1
EP - 10
VL - 8
IS - 1
DP - DeepDyve
ER -