Molecular mechanisms underlying nucleotide repeat expansion disorders

I Malik, CP Kelley, ET Wang, PK Todd - Nature reviews Molecular cell …, 2021 - nature.com
The human genome contains over one million short tandem repeats. Expansion of a subset
of these repeat tracts underlies over fifty human disorders, including common genetic …

Short tandem repeat expansions and RNA-mediated pathogenesis in myotonic dystrophy

ŁJ Sznajder, MS Swanson - International Journal of Molecular Sciences, 2019 - mdpi.com
Short tandem repeat (STR) or microsatellite, expansions underlie more than 50 hereditary
neurological, neuromuscular and other diseases, including myotonic dystrophy types 1 …

RBFOX2 modulates a metastatic signature of alternative splicing in pancreatic cancer

A Jbara, KT Lin, C Stossel, Z Siegfried, H Shqerat… - Nature, 2023 - nature.com
Pancreatic ductal adenocarcinoma (PDA) is characterized by aggressive local invasion and
metastatic spread, leading to high lethality. Although driver gene mutations during PDA …

Native functions of short tandem repeats

SE Wright, PK Todd - Elife, 2023 - elifesciences.org
Over a third of the human genome is comprised of repetitive sequences, including more than
a million short tandem repeats (STRs). While studies of the pathologic consequences of …

Myotonic dystrophy

JI Hamel - CONTINUUM: Lifelong Learning in Neurology, 2022 - journals.lww.com
PURPOSE OF REVIEW Myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2
(DM2) are genetic disorders affecting skeletal and smooth muscle, heart, brain, eyes, and …

Transcriptome alterations in myotonic dystrophy frontal cortex

BA Otero, K Poukalov, RP Hildebrandt, CA Thornton… - Cell reports, 2021 - cell.com
Myotonic dystrophy (DM) is caused by expanded CTG/CCTG repeats, causing symptoms in
skeletal muscle, heart, and central nervous system (CNS). CNS issues are debilitating and …

RNA-binding proteins in the post-transcriptional control of skeletal muscle development, regeneration and disease

DL Shi, R Grifone - Frontiers in Cell and Developmental Biology, 2021 - frontiersin.org
Embryonic myogenesis is a temporally and spatially regulated process that generates
skeletal muscle of the trunk and limbs. During this process, mononucleated myoblasts …

Concentration-dependent splicing is enabled by Rbfox motifs of intermediate affinity

BE Begg, M Jens, PY Wang, CM Minor… - Nature structural & …, 2020 - nature.com
The Rbfox family of splicing factors regulate alternative splicing during animal development
and in disease, impacting thousands of exons in the maturing brain, heart and muscle …

Reversal of RNA toxicity in myotonic dystrophy via a decoy RNA-binding protein with high affinity for expanded CUG repeats

L Arandel, M Matloka, AF Klein, F Rau… - Nature Biomedical …, 2022 - nature.com
Abstract Myotonic dystrophy type 1 (DM1) is an RNA-dominant disease whose pathogenesis
stems from the functional loss of muscleblind-like RNA-binding proteins (RBPs), which …

[HTML][HTML] Myotonic dystrophy type 2: the 2020 update

G Meola - Acta Myologica, 2020 - ncbi.nlm.nih.gov
The myotonic dystrophies are the commonest cause of adult-onset muscular dystrophy.
Phenotypes of DM1 and DM2 are similar, but there are some important differences …