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 …

Disruption of axonal transport in neurodegeneration

SH Berth, TE Lloyd - The Journal of Clinical Investigation, 2023 - Am Soc Clin Investig
Neurons are markedly compartmentalized, which makes them reliant on axonal transport to
maintain their health. Axonal transport is important for anterograde delivery of newly …

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 …

Stress granules, RNA-binding proteins and polyglutamine diseases: too much aggregation?

A Marcelo, R Koppenol, LP de Almeida, CA Matos… - Cell death & …, 2021 - nature.com
Stress granules (SGs) are membraneless cell compartments formed in response to different
stress stimuli, wherein translation factors, mRNAs, RNA-binding proteins (RBPs) and other …

Autophagy induction as a therapeutic strategy for neurodegenerative diseases

A Djajadikerta, S Keshri, M Pavel, R Prestil… - Journal of molecular …, 2020 - Elsevier
Autophagy is a major, conserved cellular pathway by which cells deliver cytoplasmic
contents to lysosomes for degradation. Genetic studies have revealed extensive links …

Huntington's disease: mechanisms of pathogenesis and therapeutic strategies

M Jimenez-Sanchez, F Licitra… - Cold Spring …, 2017 - perspectivesinmedicine.cshlp.org
Huntington's disease is a late-onset neurodegenerative disease caused by a CAG
trinucleotide repeat in the gene encoding the huntingtin protein. Despite its well-defined …

Polyglutamine repeats in neurodegenerative diseases

AP Lieberman, VG Shakkottai… - Annual Review of …, 2019 - annualreviews.org
Among the age-dependent protein aggregation disorders, nine neurodegenerative diseases
are caused by expansions of CAG repeats encoding polyglutamine (polyQ) tracts. We …

Protein quality control by molecular chaperones in neurodegeneration

A Ciechanover, YT Kwon - Frontiers in neuroscience, 2017 - frontiersin.org
Protein homeostasis (proteostasis) requires the timely degradation of misfolded proteins and
their aggregates by protein quality control (PQC), of which molecular chaperones are an …

Axonal transport deficits and neurodegenerative diseases

S Millecamps, JP Julien - Nature Reviews Neuroscience, 2013 - nature.com
The intracellular transport of organelles along an axon is crucial for the maintenance and
function of a neuron. Anterograde axonal transport has a role in supplying proteins and …

Human disease models in Drosophila melanogaster and the role of the fly in therapeutic drug discovery

UB Pandey, CD Nichols, EL Barker - Pharmacological reviews, 2011 - Elsevier
The common fruit fly, Drosophila melanogaster, is a well studied and highly tractable genetic
model organism for understanding molecular mechanisms of human diseases. Many basic …