Ontology highlight
ABSTRACT:
SUBMITTER: Feng T
PROVIDER: S-EPMC7534636 | biostudies-literature | 2020 Aug
REPOSITORIES: biostudies-literature
Feng Tuancheng T Mai Shuyi S Roscoe Jenn Marie JM Sheng Rory R RR Ullah Mohammed M Zhang Junke J Katz Isabel Iscol II Yu Haiyuan H Xiong Wenjun W Hu Fenghua F
EMBO reports 20200810 10
Haploinsufficiency of progranulin (PGRN) is a leading cause of frontotemporal lobar degeneration (FTLD). Loss of PGRN leads to lysosome dysfunction during aging. TMEM106B, a gene encoding a lysosomal membrane protein, is the main risk factor for FTLD with PGRN haploinsufficiency. But how TMEM106B affects FTLD disease progression remains to be determined. Here, we report that TMEM106B deficiency in mice leads to accumulation of lysosome vacuoles at the distal end of the axon initial segment in mo ...[more]