Ribosome-associated protein quality control

O Brandman, RS Hegde - Nature structural & molecular biology, 2016 - nature.com
Protein synthesis by the ribosome can fail for numerous reasons including faulty mRNA,
insufficient availability of charged tRNAs and genetic errors. All organisms have evolved …

Linker engineering in the context of synthetic protein switches and sensors

A Gräwe, V Stein - Trends in biotechnology, 2021 - cell.com
Linkers play critical roles in the construction of synthetic protein switches and sensors as
they functionally couple a receptor with an actuator. With an increasing number of molecular …

Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads

S Mitsuhashi, MC Frith, T Mizuguchi, S Miyatake… - Genome biology, 2019 - Springer
Tandemly repeated DNA is highly mutable and causes at least 31 diseases, but it is hard to
detect pathogenic repeat expansions genome-wide. Here, we report robust detection of …

CGG repeat-associated non-AUG translation utilizes a cap-dependent scanning mechanism of initiation to produce toxic proteins

MG Kearse, KM Green, A Krans, CM Rodriguez… - Molecular cell, 2016 - cell.com
Repeat-associated non-AUG (RAN) translation produces toxic polypeptides from nucleotide
repeat expansions in the absence of an AUG start codon and contributes to …

Trinucleotide repeats in human genome and exome

P Kozlowski, M de Mezer… - Nucleic acids research, 2010 - academic.oup.com
Trinucleotide repeats (TNRs) are of interest in genetics because they are used as markers
for tracing genotype–phenotype relations and because they are directly involved in …

The protein structure context of polyQ regions

F Totzeck, MA Andrade-Navarro, P Mier - PloS one, 2017 - journals.plos.org
Proteins containing glutamine repeats (polyQ) are known to be structurally unstable.
Abnormal expansion of polyQ in some proteins exceeding a certain threshold leads to …

The pathological G51D mutation in alpha-synuclein oligomers confers distinct structural attributes and cellular toxicity

CK Xu, M Castellana-Cruz, SW Chen, Z Du, G Meisl… - Molecules, 2022 - mdpi.com
A wide variety of oligomeric structures are formed during the aggregation of proteins
associated with neurodegenerative diseases. Such soluble oligomers are believed to be key …

Trinucleotide repeats: a structural perspective

B Almeida, S Fernandes, IA Abreu… - Frontiers in …, 2013 - frontiersin.org
Trinucleotide repeat (TNR) expansions are present in a wide range of genes involved in
several neurological disorders, being directly involved in the molecular mechanisms …

Association of polyalanine and polyglutamine coiled coils mediates expansion disease-related protein aggregation and dysfunction

I Pelassa, D Cora, F Cesano, FJ Monje… - Human molecular …, 2014 - academic.oup.com
The expansion of homopolymeric glutamine (polyQ) or alanine (polyA) repeats in certain
proteins owing to genetic mutations induces protein aggregation and toxicity, causing at …

Aggregation of CAT tails blocks their degradation and causes proteotoxicity in S. cerevisiae

CS Sitron, JH Park, JM Giafaglione, O Brandman - PLoS One, 2020 - journals.plos.org
The Ribosome-associated Quality Control (RQC) pathway co-translationally marks
incomplete polypeptides from stalled translation with two signals that trigger their …