Spinocerebellar ataxia
T Klockgether, C Mariotti, HL Paulson - Nature reviews Disease primers, 2019 - nature.com
The spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of autosomal
dominantly inherited progressive disorders, the clinical hallmark of which is loss of balance …
dominantly inherited progressive disorders, the clinical hallmark of which is loss of balance …
The biology of huntingtin
F Saudou, S Humbert - Neuron, 2016 - cell.com
Huntingtin (HTT) is now a famous protein because an abnormal expansion of a glutamine
stretch (polyQ) in its N-terminal sequence leads to the devastating neurodegenerative …
stretch (polyQ) in its N-terminal sequence leads to the devastating neurodegenerative …
Huntington's disease: from molecular pathogenesis to clinical treatment
CA Ross, SJ Tabrizi - The Lancet Neurology, 2011 - thelancet.com
Huntington's disease is a progressive, fatal, neurodegenerative disorder caused by an
expanded CAG repeat in the huntingtin gene, which encodes an abnormally long …
expanded CAG repeat in the huntingtin gene, which encodes an abnormally long …
Mechanisms and consequences of macromolecular phase separation
Over a century ago, colloidal phase separation of matter into non-membranous bodies was
recognized as a fundamental organizing principal of cell" protoplasm." Recent insights into …
recognized as a fundamental organizing principal of cell" protoplasm." Recent insights into …
[HTML][HTML] Neuronal sigma-1 receptors: signaling functions and protective roles in neurodegenerative diseases
DA Ryskamp, S Korban, V Zhemkov… - Frontiers in …, 2019 - frontiersin.org
Sigma-1 receptor (S1R) is a multi-functional, ligand-operated protein situated in
endoplasmic reticulum (ER) membranes and changes in its function and/or expression have …
endoplasmic reticulum (ER) membranes and changes in its function and/or expression have …
Molecular mechanisms and potential therapeutical targets in Huntington's disease
C Zuccato, M Valenza, E Cattaneo - Physiological reviews, 2010 - journals.physiology.org
Huntington's disease (HD) is a neurodegenerative disorder caused by a CAG repeat
expansion in the gene encoding for huntingtin protein. A lot has been learned about this …
expansion in the gene encoding for huntingtin protein. A lot has been learned about this …
Huntington's disease
S Finkbeiner - Cold Spring Harbor perspectives in …, 2011 - cshperspectives.cshlp.org
Huntington's disease (HD) is the most common inherited neurodegenerative disease and is
characterized by uncontrolled excessive motor movements and cognitive and emotional …
characterized by uncontrolled excessive motor movements and cognitive and emotional …
Essential role of coiled coils for aggregation and activity of Q/N-rich prions and PolyQ proteins
F Fiumara, L Fioriti, ER Kandel, WA Hendrickson - Cell, 2010 - cell.com
The functional switch of glutamine/asparagine (Q/N)-rich prions and the neurotoxicity of
polyQ-expanded proteins involve complex aggregation-prone structural transitions …
polyQ-expanded proteins involve complex aggregation-prone structural transitions …
Evolution and function of CAG/polyglutamine repeats in protein–protein interaction networks
MH Schaefer, EE Wanker… - Nucleic acids …, 2012 - academic.oup.com
Expanded runs of consecutive trinucleotide CAG repeats encoding polyglutamine (polyQ)
stretches are observed in the genes of a large number of patients with different genetic …
stretches are observed in the genes of a large number of patients with different genetic …
The pathobiology of perturbed mutant huntingtin protein–protein interactions in Huntington's disease
EE Wanker, A Ast, F Schindler, P Trepte… - Journal of …, 2019 - Wiley Online Library
Mutations are at the root of many human diseases. Still, we largely do not exactly
understand how they trigger pathogenesis. One, more recent, hypothesis has been that they …
understand how they trigger pathogenesis. One, more recent, hypothesis has been that they …