[HTML][HTML] Lysosome dysfunction as a cause of neurodegenerative diseases: Lessons from frontotemporal dementia and amyotrophic lateral sclerosis

J Root, P Merino, A Nuckols, M Johnson… - Neurobiology of disease, 2021 - Elsevier
Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are fatal
neurodegenerative disorders that are thought to exist on a clinical and pathological …

Progranulin, lysosomal regulation and neurodegenerative disease

AW Kao, A McKay, PP Singh, A Brunet… - Nature Reviews …, 2017 - nature.com
The discovery that heterozygous and homozygous mutations in the gene encoding
progranulin are causally linked to frontotemporal dementia and lysosomal storage disease …

Progranulin deficiency promotes circuit-specific synaptic pruning by microglia via complement activation

H Lui, J Zhang, SR Makinson, MK Cahill, KW Kelley… - Cell, 2016 - cell.com
Microglia maintain homeostasis in the brain, but whether aberrant microglial activation can
cause neurodegeneration remains controversial. Here, we use transcriptome profiling to …

Lysosomal calcium signalling regulates autophagy through calcineurin and TFEB

DL Medina, S Di Paola, I Peluso, A Armani… - Nature cell …, 2015 - nature.com
The view of the lysosome as the terminal end of cellular catabolic pathways has been
challenged by recent studies showing a central role of this organelle in the control of cell …

GeneMANIA prediction server 2013 update

K Zuberi, M Franz, H Rodriguez, J Montojo… - Nucleic acids …, 2013 - academic.oup.com
Abstract GeneMANIA (http://www. genemania. org) is a flexible user-friendly web interface
for generating hypotheses about gene function, analyzing gene lists and prioritizing genes …

The lysosomal function of progranulin, a guardian against neurodegeneration

DH Paushter, H Du, T Feng, F Hu - Acta neuropathologica, 2018 - Springer
Progranulin (PGRN), encoded by the GRN gene in humans, is a secreted growth factor
implicated in a multitude of processes ranging from regulation of inflammation to wound …

Evaluation of RNAi and CRISPR technologies by large-scale gene expression profiling in the Connectivity Map

I Smith, PG Greenside, T Natoli, DL Lahr… - PLoS …, 2017 - journals.plos.org
The application of RNA interference (RNAi) to mammalian cells has provided the means to
perform phenotypic screens to determine the functions of genes. Although RNAi has …

[HTML][HTML] Structural covariance networks are coupled to expression of genes enriched in supragranular layers of the human cortex

R Romero-Garcia, KJ Whitaker, F Váša, J Seidlitz… - Neuroimage, 2018 - Elsevier
Complex network topology is characteristic of many biological systems, including anatomical
and functional brain networks (connectomes). Here, we first constructed a structural …

Oncogenic NRAS signaling differentially regulates survival and proliferation in melanoma

LN Kwong, JC Costello, H Liu, S Jiang, TL Helms… - Nature medicine, 2012 - nature.com
The discovery of potent inhibitors of the BRAF proto-oncogene has revolutionized therapy
for melanoma harboring mutations in BRAF, yet NRAS-mutant melanoma remains without …

Prosaposin facilitates sortilin-independent lysosomal trafficking of progranulin

X Zhou, L Sun, F Bastos de Oliveira, X Qi… - Journal of Cell …, 2015 - rupress.org
Mutations in the progranulin (PGRN) gene have been linked to two distinct
neurodegenerative diseases, frontotemporal lobar degeneration (FTLD) and neuronal …