Results 51 to 60 of about 16,368 (183)
C9orf72 knockout mice show age-dependent lethality.
, 2016 A) Schematic representation of the generation of the C9orf72 KO mice. Diagram depicts the mouse C9orf72 wild-type allele, C9orf72 targeting cassette, and the KO allele after SOX-Cre recombination.
Justin Chu (732152) +8 more
core +1 more source
A comparative bioinformatic analysis of C9orf72 [PDF]
, 2018 C9orf72 is associated with frontotemporal dementia (FTD) and Amyotrophic Lateral Sclerosis (ALS), both of which are devastating neurodegenerative diseases.
K. Ravi Acharya +2 more
core +1 more source
Toward a Behavioral Reserve Model in Amyotrophic Lateral Sclerosis
Annals of Neurology, EarlyView.Objective Behavioral impairment is common in amyotrophic lateral sclerosis (ALS) and strongly affects autonomy, caregiver burden, and outcomes, yet predictors of vulnerability remain unclear. We investigated whether premorbid regulatory traits and socio‐educational exposures are associated with behavioral phenotypes in ALS within a behavioral reserve ...
Francesca Palumbo +14 more
wiley +1 more source
C9orf72/ALFA-1 controls TFEB/HLH-30-dependent metabolism through dynamic regulation of Rag GTPases.
PLoS Genetics, 2020 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 neurodegenerative diseases that include amyotrophic lateral sclerosis (ALS ...
Yon Ju Ji +5 more
doaj +1 more source
Annals of Neurology, EarlyView.Objective Amyotrophic lateral sclerosis (ALS) has a markedly distinctive clinical and neuroradiological signature, with the preferential involvement of specific brain networks and the apparent sparing of others. The molecular underpinnings of the strikingly selective anatomical vulnerability have not been fully elucidated to date despite the potential ...
Marlene Tahedl +10 more
wiley +1 more source
eLife, 2015 Microsatellite expansions are the leading cause of numerous neurodegenerative disorders. Here we demonstrate that GGGGCC and CAG microsatellite repeat RNAs associated with C9orf72 in amyotrophic lateral sclerosis/frontotemporal dementia and with ...
Alondra Schweizer Burguete +5 more
doaj +1 more source
C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients. [PDF]
PLoS ONE, 2013 A hexanucleotide repeat expansion in C9ORF72 has been established as a common cause of frontotemporal dementia (FTD). However, the minimum repeat number necessary for disease pathogenesis is not known.
Carol Dobson-Stone +17 more
doaj +1 more source
Blood SOD1 Activity in ALS Patients Receiving Tofersen Treatment
Annals of Neurology, EarlyView.Objective The antisense oligonucleotide tofersen is the first disease‐modifying drug for SOD1‐related amyotrophic lateral sclerosis (ALS) and was approved because of its ability to reduce SOD1 protein and neurofilament levels. The effect of tofersen on SOD1 activity is unclear but of clinical relevance because homozygous SOD1 mutations, linked to ...
Katharina Goehring +18 more
wiley +1 more source
RNA Misprocessing in C9orf72-Linked Neurodegeneration [PDF]
, 2017 A large GGGGCC hexanucleotide repeat expansion in the first intron or promoter region of the C9orf72 gene is the most common genetic cause of familial and sporadic Amyotrophic lateral sclerosis (ALS), a devastating degenerative disease of motor neurons ...
Niblock, Michael +9 more
core +1 more source
iMeta, EarlyView.The Human Biomarker Navigator integrates the disease continuum, biomarker dynamics, cross‐organ biomarker networks, biomarker classification, and technology‐driven paradigms. It maps how biomarkers link multi‐system physiology and pathology across the nervous, respiratory, endocrine, circulatory, immune, digestive, urinary, reproductive, and ...
Meng‐Yao Li +29 more
wiley +1 more source