Biomolecular condensates and disease pathogenesis

K Ruan, G Bai, Y Fang, D Li, T Li, X Liu, B Lu… - Science China Life …, 2024 - Springer
Biomolecular condensates or membraneless organelles (MLOs) formed by liquid-liquid
phase separation (LLPS) divide intracellular spaces into discrete compartments for specific …

From pathways to targets: understanding the mechanisms behind polyglutamine disease

JJ Weber, AS Sowa, T Binder… - BioMed research …, 2014 - Wiley Online Library
The history of polyglutamine diseases dates back approximately 20 years to the discovery of
a polyglutamine repeat in the androgen receptor of SBMA followed by the identification of …

Pharmacological induction of heat-shock proteins alleviates polyglutamine-mediated motor neuron disease

M Katsuno, C Sang, H Adachi… - Proceedings of the …, 2005 - National Acad Sciences
Spinal and bulbar muscular atrophy (SBMA) is an adult-onset motor neuron disease caused
by the expansion of a trinucleotide CAG repeat encoding the polyglutamine tract in the first …

Loss of Hsp70 exacerbates pathogenesis but not levels of fibrillar aggregates in a mouse model of Huntington's disease

JL Wacker, SY Huang, AD Steele, R Aron… - Journal of …, 2009 - Soc Neuroscience
Endogenous protein quality control machinery has long been suspected of influencing the
onset and progression of neurodegenerative diseases characterized by accumulation of …

Proteomic screening for amyloid proteins

AA Nizhnikov, AI Alexandrov, TA Ryzhova… - PLoS …, 2014 - journals.plos.org
Despite extensive study, progress in elucidation of biological functions of amyloids and their
role in pathology is largely restrained due to the lack of universal and reliable biochemical …

Polyglutamine aggregation in Huntington disease: does structure determine toxicity?

G Hoffner, P Djian - Molecular neurobiology, 2015 - Springer
Huntington disease is a dominantly inherited disease of the central nervous system. The
mutational expansion of polyglutamine beyond a critical length produces a toxic gain of …

Purification of neuronal inclusions of patients with Huntington's disease reveals a broad range of N‐terminal fragments of expanded huntingtin and insoluble polymers

G Hoffner, ML Island, P Djian - Journal of neurochemistry, 2005 - Wiley Online Library
Huntington's disease resulting from huntingtin containing an expanded polyglutamine is
associated with aggregates largely confined to neuronal inclusions, and with neuronal …

Role of tissue transglutaminase-2 (TG2)-mediated aminylation in biological processes

TS Lai, CJ Lin, CS Greenberg - Amino Acids, 2017 - Springer
Post-translational modification (PTM) is an important mechanism in modulating a protein's
structure and can lead to substantial diversity in biological function. Compared to other forms …

Phase transition of huntingtin: factors and pathological relevance

J Yang, X Yang - Frontiers in genetics, 2020 - frontiersin.org
Formation of intracellular mutant Huntingtin (mHtt) aggregates is a hallmark of Huntington's
disease (HD). The mechanisms underlying mHtt aggregation, however, are still not fully …

Soluble androgen receptor oligomers underlie pathology in a mouse model of spinobulbar muscular atrophy

M Li, ES Chevalier-Larsen, DE Merry… - Journal of Biological …, 2007 - ASBMB
In polyglutamine diseases such as X-linked spinobulbar muscular atrophy (SBMA), it is
unknown whether the toxic form of the protein is an insoluble or soluble aggregate or a …