Martínez García, Magdalena Teresa(Universitat Politècnica de València, 2015-10-22)
[ES] The protein Ankyrin Repeat and Kinase Domain containing I (ANKK1) is a member of the RIP (Receptor-Interacting Protein) family of kinases. ANKK1 has a kinase domain in the N-terminal end, an interdomain region and a ...
YNDRIAGO ACHA, LAURA(Universitat Politècnica de València, 2015-06-10)
[EN] Charcot-Marie-Tooth (CMT) is the most frequently inherited peripheral neuropathy with highly genetic and clinic heterogeneity. It is classified in two main groups: axonal and demyelinating, both been related with at ...
Rubio Solsona, Estrella(Universitat Politècnica de València, 2018-04-23)
En la presente Tesis Doctoral se muestra el estudio de la proteína Ankyrin repeat and kinase domain containing 1 (ANKK1) en el linaje miogénico durante el desarrollo y en la edad adulta.
El gen ANKK1 ha sido ampliamente ...
Muñoz Lasso, Diana Carolina(Universitat Politècnica de València, 2017-12-15)
Friedreich ataxia (FRDA) is a recessive human disease of central and peripheral nervous system that affects children and young adults. FRDA is a peripheral neuropathy characterized by a initial degeneration of the large ...