Results 101 to 110 of about 44,176 (282)
Neurobiology of Disease, 1999 Huntington's disease (HD) is caused by an expanded glutamine tract, which confers a novel aggregation-promoting property on the 350-kDa huntingtin protein.
Francesca Persichetti +6 more
doaj +1 more source
Metabolic and transcriptomic analysis of Huntington's disease model reveal changes in intracellular glucose levels and related genes. [PDF]
, 2017 Huntington's Disease (HD) is a neurodegenerative disorder caused by an expansion in a CAG-tri-nucleotide repeat that introduces a poly-glutamine stretch into the huntingtin protein (mHTT).
Chaves, Gepoliano +6 more
core +2 more sources
Brain Pathology, EarlyView.ADAPTR recommendations for Adult‐type Diffuse Gliomas in Resource‐restrained settings. Abstract The fifth edition of the WHO classification of CNS Tumors (WHO CNS5) has revised the diagnostic and grading criteria for Adult‐type Diffuse Gliomas (ADGs) by integrating molecular parameters with histologic features.
Vani Santosh +11 more
wiley +1 more source
Alteration in Fluidity of Cell Plasma Membrane in Huntington Disease Revealed by Spectral Phasor Analysis. [PDF]
, 2018 Huntington disease (HD) is a late-onset genetic neurodegenerative disorder caused by expansion of cytosine-adenine-guanine (CAG) trinucleotide in the exon 1 of the gene encoding the polyglutamine (polyQ).
Digman, Michelle A +3 more
core +2 more sources
PolyQ expansion does not alter the Huntingtin-HAP40 complex [PDF]
, 2021 Bin Huang +10 more
openalex +1 more source
Rapid generation of prion disease models using AAV‐delivered PrP variants in knockout mice
Brain Pathology, EarlyView.We developed a rapid AAV‐based system to generate prion disease models in weeks rather than months. Following systemic AAV9P31 delivery of modified PrP to knockout mice, we achieved brain‐wide expression and successful propagation of both classical (RML) and atypical (GSS‐A117V) prion strains.
Maitena San‐Juan‐Ansoleaga +11 more
wiley +1 more source
Protein tandem repeats that produce frameshifts can generate new structural states and functions
The FEBS Journal, EarlyView.We explored an alternative protein structure landscape by analyzing amino acid sequences from frameshifted tandem repeats—regions prone to frameshifts. These frameshifts, especially in short repeats, lead to more drastic changes than in non‐repetitive regions, often altering structure, function, localization, and potentially contributing to disease ...
Zarifa Osmanli +8 more
wiley +1 more source
E3 ligase Praja1 mediates ubiquitination and degradation of microtubule‐associated protein tau
The FEBS Journal, EarlyView.E3 ligase Praja1, but not its paralogue Praja2, recognizes and ubiquitinates tau protein for proteasomal degradation. This newly identified function of Praja1‐mediated tau degradation suggests its role in protein quality control, which may provide insights into the pathogenesis of tauopathies.
Shiho Aoki +8 more
wiley +1 more source
Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs [PDF]
, 2021 Roy Jung +19 more
openalex +1 more source
The FEBS Journal, EarlyView.Redox environment modulates in vitro aggregation of Ataxin‐3, the protein implicated in spinocerebellar ataxia type 3. Reducing conditions stabilize native monomers and prevent aggregation, whereas oxidative conditions promote the formation of non‐native conformers and disulfide‐linked oligomers within the Josephin domain (JD).
Martyna Podlasiak +10 more
wiley +1 more source