Litcius/Paper detail

Loss of Tmem106b leads to cerebellum Purkinje cell death and motor deficits

Rosa Rademakers, Alexandra M. Nicholson, Yingxue Ren, Shunsuke Koga, Hung Phuoc Nguyen, Mieu Brooks, Wenhui Qiao, Zachary Quicksall, Billie J. Matchett, Ralph B. Perkerson, Aishe Kurti, Monica Castanedes‐Casey, Virginia Phillips, Ariston L Librero, Cristhoper H. Fernandez De Castro, Matthew Baker, Shanu F. Roemer, Melissa E. Murray, Yan W. Asmann, John Denis Fryer, Guojun Bu, Dennis W. Dickson, Xiaolai Zhou

2021Brain Pathology16 citationsDOIOpen Access PDF

Abstract

TMEM106B has been recently implicated in multiple neurodegenerative diseases. Here, Rademakers et al. report a late-onset cerebellar Purkinje cell loss and progressive decline in motor function and gait deficits in a conventional Tmem106b-/- mouse model. By using high-power microscopy and bulk RNA sequencing, the authors further identify lysosomal and immune dysfunction as potential underlying mechanisms of the Purkinje cell loss.

Topics & Concepts

Purkinje cellCerebellumNeuroscienceMotor functionProgrammed cell deathBiologyMedicinePhysical medicine and rehabilitationApoptosisGeneticsRNA regulation and diseaseNeuroinflammation and Neurodegeneration MechanismsNeurological diseases and metabolism