Frédéric Frottin, Manuela Pérez-Berlanga ... Mark S Hipp
Protein aggregates resulting from mutations in C9orf72 impair different aspects of cellular quality control in the cytosol and the nucleus, but mRNA-mediated effects contribute more strongly to toxicity.
Zfp106 functions as an RNA binding protein, binds directly to GGGGCC RNA repeats, is required in motor neurons to prevent ALS-like neurodegeneration in mice, and can suppress neurotoxicity in an established fly model of ALS.
Alondra Schweizer Burguete, Sandra Almeida ... Nancy M Bonini
Expanded repeat RNAs associated with human neurodegenerative diseases can become incorporated into transported granules in neurons, perturbing their function to cause neuritic branching defects.
Kathleen M Cunningham, Kirstin Maulding ... Thomas E Lloyd
Impaired nuclear import of the transcription factor TFEB/MITF is a major cause of autophagy and lysosome dysfunction in amyotrophic lateral sclerosis caused by mutations in the C9orf72 gene.
New analyses shift the view that some forms of amyotrophic lateral sclerosis and frontotemporal dementia are due to defects in a single RNA-binding protein.
A dual role of immune cells was found in ALS prognosis, where neutrophils and monocytes primarily reflect functional status whereas NK cells and different T lymphocyte populations act as prognostic markers for survival.
Jeong Hyang Park, Chang Geon Chung ... Sung Bae Lee
Genetic and optogenetic analyses in Drosophila neurons reveal calcium as one of the key regulators of nucleocytoplasmic localization of TDP-43 via Calpain-A and Importin α3.
Yilin Kang, Michael James Baker ... Diana Stojanovski
A novel and metazoan-specific protein, Tim29, is identified as a subunit of the human TIM22 complex and shown to function in the assembly of hTim22 and facilitate contacts with the TOM complex.
