Network approach identifies Pacer as an autophagy protein involved in ALS pathogenesis.


Amyotrophic lateral sclerosis (ALS) is a multifactorial fatal motoneuron disease without a cure. Ten percent of ALS cases can be pointed to a clear genetic cause, while the remaining 90% is classified as sporadic. Our study was aimed to uncover new connections within the ALS network through a bioinformatic approach, by which we identified C13orf18, recently named Pacer, as a new component of the autophagic machinery and potentially involved in ALS pathogenesis.

S. Beltran, M. Nassif, E. Vicencio, J. Arcos, L. Labrador, B. I. Cortes, C. Cortez, C. A. Bergmann, S. Espinoza, M. F. Hernandez, J. M. Matamala, L. Bargsted, S. Matus, D. Rojas-Rivera, M. J. M. Bertrand, . B. Medinas, C. Hetz, P. A. Manque & U. Woehlbier

Molecular Neurodegeneration

marzo 27, 2019

DOI: 10.1186/s13024-019-0313-9

Investigador BNI: Dr. José Manuel Matamala (MD, PhD) , , Danilo Medinas