CMT-linked loss-of-function mutations in GDAP1 impair store-operated Ca(2+) entry-stimulated respiration

Por González-Sánchez, Paloma, Pla-Martín, David, Martínez-Valero, Paula, Rueda, Carlos B., Calpena, Eduardo, del Arco, Araceli, Palau, Francesc, Satrústegui, Jorgina
Publicado no Sci Rep (2017)

De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise

Por Writzl, Karin, Maver, Ales, Kovačič, Lidija, Martinez-Valero, Paula, Contreras, Laura, Satrustegui, Jorgina, Castori, Marco, Faivre, Laurence, Lapunzina, Pablo, van Kuilenburg, André B.P., Radović, Slobodanka, Thauvin-Robinet, Christel, Peterlin, Borut, del Arco, Araceli, Hennekam, Raoul C.
Publicado no Am J Hum Genet (2017)