Ontology highlight
ABSTRACT:
SUBMITTER: Chang MC
PROVIDER: S-EPMC5584112 | biostudies-literature | 2017 Sep
REPOSITORIES: biostudies-literature
Chang Michael C MC Srinivasan Karpagam K Friedman Brad A BA Suto Eric E Modrusan Zora Z Lee Wyne P WP Kaminker Joshua S JS Hansen David V DV Sheng Morgan M
The Journal of experimental medicine 20170804 9
Loss-of-function mutations in <i>GRN</i> cause frontotemporal dementia (FTD) with transactive response DNA-binding protein of 43 kD (TDP-43)-positive inclusions and neuronal ceroid lipofuscinosis (NCL). There are no disease-modifying therapies for either FTD or NCL, in part because of a poor understanding of how mutations in genes such as <i>GRN</i> contribute to disease pathogenesis and neurodegeneration. By studying mice lacking progranulin (PGRN), the protein encoded by <i>GRN</i>, we discove ...[more]