The emerging role of the first 17 amino acids of huntingtin in Huntington’s disease
Biomolecular Concepts, 2015 Huntington’s disease (HD) is caused by a polyglutamine (polyQ) domain that is expanded beyond a critical threshold near the N-terminus of the huntingtin (htt) protein, directly leading to htt aggregation. While full-length htt is a large (on the order of
Arndt James R. +2 more
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No Evidence that 2D:4D is Related to the Number of CAG Repeats in the Androgen Receptor Gene [PDF]
, 2013 The length ratio of the second to the fourth digit (2D:4D) is a putative marker of prenatal testosterone (T) effects. The number of CAG repeats (CAGn) in the AR gene is negatively correlated with T sensitivity in vitro. Results regarding the relationship
Honekopp, Johannes
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Altered Metabolic Signaling and Potential Therapies in Polyglutamine Diseases
MetabolitesPolyglutamine diseases comprise a cluster of genetic disorders involving neurodegeneration and movement disabilities. In polyglutamine diseases, the target proteins become aberrated due to polyglutamine repeat formation.
Alisha Vohra +2 more
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Pharmaceuticals, 2014 Histone deacetylases (HDACs) enzymes, which affect the acetylation status of histones and other important cellular proteins, have been recognized as potentially useful therapeutic targets for a broad range of human disorders.
Elizabeth A. Thomas
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Effects of flanking sequences and cellular context on subcellular behavior and pathology of mutant HTT [PDF]
, 2020 Huntington’s disease (HD) is caused by an expansion of a poly glutamine (polyQ) stretch in the huntingtin protein (HTT) that is necessary to cause pathology and formation of HTT aggregates.
Agrawal, Namita +10 more
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Changes in Purkinje cell firing and gene expression precede behavioral pathology in a mouse model of SCA2. [PDF]
, 2012 Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominantly inherited disorder, which is caused by a pathological expansion of a polyglutamine (polyQ) tract in the coding region of the ATXN2 gene.
Hansen, Stephen T +3 more
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Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende +26 more
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Multiple discrete soluble aggregates influence polyglutamine toxicity in a Huntington\u27s disease model system [PDF]
, 2016 Huntington’s disease (HD) results from expansions of polyglutamine stretches (polyQ) in the huntingtin protein (Htt) that promote protein aggregation, neurodegeneration, and death.
Denis, Clyde L., Wang, Xin, Xi, Wen
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Nanodiamond Quantum Sensors for Probing Free Radical Biology
Advanced Functional Materials, EarlyView.Free radicals play key roles in cellular signaling and disease but remain difficult to measure in living systems. Nanodiamonds (NDs) with nitrogen‐vacancy (NV) centers enable quantum sensing of local magnetic noise via T₁ relaxometry, providing nondestructive radical detection in living cells.
Qi Lu, Yingke Wu, Tanja Weil
wiley +1 more source
Altered retinal structure and function in Spinocerebellar ataxia type 3
Neurobiology of Disease, 2022 Spinocerebellar ataxia type 3 (SCA3) is an autosomal dominant neurodegenerative disorder caused by expansion of a polyglutamine (polyQ)-encoding CAG repeat in the ATXN3 gene. Because the ATXN3 protein regulates photoreceptor ciliogenesis and phagocytosis,
Vasileios Toulis +10 more
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