Impairment of lysosome function and autophagy in rare neurodegenerative diseases
F Darios, G Stevanin - Journal of molecular biology, 2020 - Elsevier
Rare genetic diseases affect a limited number of patients, but their etiology is often known,
facilitating the development of reliable animal models and giving the opportunity to …
facilitating the development of reliable animal models and giving the opportunity to …
Elucidating the Role of Cerebellar Synaptic Dysfunction in C9orf72-ALS/FTD — a Systematic Review and Meta-Analysis
A Kaliszewska, J Allison, TT Col, C Shaw, N Arias - The Cerebellum, 2021 - Springer
A hexanucleotide repeat expansion in the C9orf72 gene is the most common genetic cause
of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) with synaptic …
of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) with synaptic …
C9orf72/ALFA-1 controls TFEB/HLH-30-dependent metabolism through dynamic regulation of Rag GTPases
Nutrient utilization and energy metabolism are critical for the maintenance of cellular
homeostasis. A mutation in the C9orf72 gene has been linked to the most common forms of …
homeostasis. A mutation in the C9orf72 gene has been linked to the most common forms of …
Structure of the human C9orf72-SMCR8 complex reveals a multivalent protein interaction architecture
J Nörpel, S Cavadini, AD Schenk, A Graff-Meyer… - PLoS …, 2021 - journals.plos.org
A major cause of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia
(FTD) spectrum disorder is the hexanucleotide G4C2 repeat expansion in the first intron of …
(FTD) spectrum disorder is the hexanucleotide G4C2 repeat expansion in the first intron of …
Autophagy in motor neuron diseases
N Rodríguez-Muela - Progress in molecular biology and translational …, 2020 - Elsevier
Motor neuron diseases (MNDs) are a wide group of neurodegenerative disorders
characterized by the degeneration of a specific neuronal type located in the central nervous …
characterized by the degeneration of a specific neuronal type located in the central nervous …
INVESTIGATION OF C9ORF72 MOLECULAR HALLMARKS AND DEVELOPMENT OF THERAPEUTIC STRATEGIES
F Biella - 2021 - air.unimi.it
The majority of genetic Amyotrophic Lateral Sclerosis (ALS) cases are due to the expansion
in the number of an hexanucleotidic repeat in a non-coding site of the locus C9orf72. Many …
in the number of an hexanucleotidic repeat in a non-coding site of the locus C9orf72. Many …