Results 61 to 70 of about 9,130,139 (414)
Effect of post-mortem delay on N-terminal huntingtin protein fragments in human control and Huntington disease brain lysates. [PDF]
PLoS ONE, 2017 Huntington disease is associated with elongation of a CAG repeat in the HTT gene that results in a mutant huntingtin protein. Several studies have implicated N-terminal huntingtin protein fragments in Huntington disease pathogenesis.
Menno H Schut +9 more
doaj +1 more source
Huntington\u27s Disease--A Review [PDF]
, 2016 Huntington’s disease is degenerative and effects both cognitive and motor functioning, beginning in the 20s and continuing a decline for about two decades until death.
Dunn, Christen
core +1 more source
A Systems Biology Approach towards Deciphering the Unfolded Protein Response in Huntington's Disease [PDF]
, 2012 Although the disease causing gene huntingtin has been known for some time, the exact cause of neuronal cell death during _Huntington's disease_ (HD) remains unknown.
Kameshwar R. Ayasolla +2 more
core +2 more sources
Molecular Oncology, EarlyView.Dual targeting of AKT and mTOR using MK2206 and RAD001 reduces tumor burden in an intracardiac colon cancer circulating tumor cell xenotransplantation model. Analysis of AKT isoform‐specific knockdowns in CTC‐MCC‐41 reveals differentially regulated proteins and phospho‐proteins by liquid chromatography coupled mass spectrometry. Circulating tumor cells
Daniel J. Smit +19 more
wiley +1 more source
Pediatric Neurology Briefs, 1993 The clinical manifestations and outcome in 13 patients with bilateral basal ganglia lesions and neurological dysfunction are reported from the Child Neurology Unit, Vall D’Hebron University Hospital, Barcelona, Spain.
J Gordon Millichap
doaj +1 more source
Vocal markers from sustained phonation in Huntington's Disease [PDF]
arXiv, 2020 Disease-modifying treatments are currently assessed in neurodegenerative diseases. Huntington's Disease represents a unique opportunity to design automatic sub-clinical markers, even in premanifest gene carriers. We investigated phonatory impairments as potential clinical markers and propose them for both diagnosis and gene carriers follow-up.
arxiv
Automated Huntington's Disease Prognosis via Biomedical Signals and Shallow Machine Learning [PDF]
arXiv, 2023 Background: Huntington's disease (HD) is a rare, genetically determined brain disorder that limits the life of the patient, although early prognosis of HD can substantially improve the patient's quality of life. Current HD prognosis methods include using a variety of complex biomarkers such as clinical and imaging factors, however these methods have ...
arxiv
FEBS Open Bio, EarlyView.Long non‐coding RNAs (lncRNAs) occupy an abundant fraction of the eukaryotic transcriptome and an emerging area in cancer research. Regulation by lncRNAs is based on their subcellular localization in HNSCC. This cartoon shows the various functions of lncRNAs in HNSCC discussed in this review.
Ellen T. Tran +3 more
wiley +1 more source
Parkinsonism with a Hint of Huntington’s from 29 CAG Repeats in HTT
Brain Sciences, 2019 Huntington’s disease is caused by at least 36 cytosine-adenine-guanine (CAG) repeats in an HTT gene allele, but repeat tracts in the intermediate range (27−35 repeats) also display a subtle phenotype. This patient had a slightly elongated CAG
Sipilä JOT
doaj +1 more source
FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier +20 more
wiley +1 more source