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Autophagy and its impact on neurodegenerative diseases: new roles for TDP-43 and C9orf72
(Frontiers, 2017-05-30)
Autophagy is a catabolic mechanism where intracellular material is degraded by vesicular structures called autophagolysosomes. Autophagy is necessary to maintain the normal function of the central nervous system (CNS), ...
C9orf72 Hexanucleotide Repeat in Huntington-Like Patients: Systematic Review and Meta-Analysis
(Frontiers Media, 2020)
Introduction: Patients with Huntington-Like disorders (HLD) comprise a variety of allelic disorders sharing a Huntington phenotype. The hexanucleotide repeat expansion of the C9orf72 gene could explain part of the HLD ...
BET bromodomain inhibitors PFI-1 and JQ1 are identified in an epigenetic compound screen to enhance C9ORF72 gene expression and shown to ameliorate C9ORF72-associated pathological and behavioral abnormalities in a C9ALS/FTD model
(2021)
Abstract
Background
An intronic GGGGCC (G4C2) hexanucleotide repeat expansion (HRE) in the C9ORF72 gene is the most common cause of amyotrophic lateral sclerosis (ALS) and ...
The Enigmatic Role of C9ORF72 in Autophagy
(2017)
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease characterized by the loss of motor neurons resulting in a progressive and irreversible muscular paralysis. Advances in large-scale genetics and ...
C9ORF72 G 4 C 2 -repeat expansion and frontotemporal dementia first reported case in Argentina
(Routledge Journals, Taylor & Francis Ltd, 2016-06)
We present a female patient aged 51 who developed behavioral disorders followed by cognitive impairment over 3 years. Neuropsychological, neuropsychiatric, and radiological features suggested a probable behavioral variant ...
Prevalence of C9orf72 hexanucleotide repeat expansion in Greek patients with sporadic ALS
(Taylor & Francis, 2020-07)
A total of 178 consecutive patients with definite sALS without frontotemporal dementia (FTD) were enrolled in this study, after complete clinical evaluation. A Repeat-Primed Polymerase Chain Reaction (RP-PCR) protocol was ...
The therapeutic potential of dibenzoylmethane (DBM) in a C9ORF72-mediated FTD/ALS mouse model
(Universidad de Chile, 2022)
La causa genética más frecuente de C9FTD/ALS es la expansión repetida de hexanucleótidos en el gen C9ORF72. Esta mutación produce repeticiones de dipéptidos (DPR) que son neurotóxicas y forman cuerpos de inclusión. Estudios ...
C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases
(Assoc Arquivos Neuro- Psiquiatria, 2015-03-01)
Neurodegenerative diseases represent a heterogeneous group of neurological conditions primarily involving dementia, motor neuron disease and movement disorders. They are mostly related to different pathophysiological ...
A uORF represses the transcription factor AtHB1 in aerial tissues to avoid a deleterious phenotype
(American Society of Plant Biologist, 2017-09)
AtHB1 is an Arabidopsis (Arabidopsis thaliana) homeodomain-leucine zipper transcription factor that participates in hypocotyl elongation under short-day conditions. Here, we show that its expression is posttranscriptionally ...