Muscle training in muscular dystrophies

T Ansved - Acta physiologica scandinavica, 2001 - Wiley Online Library
There has been a debate for many years on whether muscular training is beneficial or
harmful for patients with myopathic disorders and the role of exercise training in the …

Expanded CUG repeat RNAs form hairpins that activate the double-stranded RNA-dependent protein kinase PKR

BIN Tian, RJ White, T Xia, S Welle, DH Turner… - Rna, 2000 - cambridge.org
Myotonic dystrophy is caused by an expanded CTG repeat in the 3′ untranslated region of
the DM protein kinase (DMPK) gene. The expanded repeat triggers the nuclear retention of …

Reduced synthesis of muscle proteins in chronic renal failure

D Adey, R Kumar, JT McCarthy… - American Journal of …, 2000 - journals.physiology.org
Muscle wasting and weakness occur frequently in patients with chronic renal failure. The
mechanism (s) by which these abnormalities occur is unclear. We hypothesized that such …

Ribonuclear inclusions in skeletal muscle in myotonic dystrophy types 1 and 2

A Mankodi, P Teng‐Umnuay, M Krym… - Annals of Neurology …, 2003 - Wiley Online Library
Abstract Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are caused by genomic
expansions of CTG or CCTG repeats. When transcribed, these mutations give rise to repeat …

Myotonic dystrophy: therapeutic strategies for the future

TM Wheeler - Neurotherapeutics, 2008 - Springer
Myotonic dystrophy (DM) is a dominantly inherited neurodegenerative disorder for which
there is no cure or effective treatment. Investigation of DM pathogenesis has identified a …

Reexpression of pyruvate kinase M2 in type 1 myofibers correlates with altered glucose metabolism in myotonic dystrophy

Z Gao, TA Cooper - … of the National Academy of Sciences, 2013 - National Acad Sciences
Myotonic dystrophy type 1 (DM1) is caused by expansion of CTG repeats in the 3′ UTR of
the DMPK gene. Expression of CUG expansion (CUGexp) RNA produces a toxic gain of …

Aberrant insulin receptor expression is associated with insulin resistance and skeletal muscle atrophy in myotonic dystrophies

LV Renna, F Bosè, E Brigonzi, B Fossati, G Meola… - PLoS …, 2019 - journals.plos.org
Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are autosomal dominant multisystemic
disorders linked to two different genetic loci and characterized by several features including …

Open-label trial of recombinant human insulin-like growth factor 1/recombinant human insulin-like growth factor binding protein 3 in myotonic dystrophy type 1

CR Heatwole, KJ Eichinger, DI Friedman… - Archives of …, 2011 - jamanetwork.com
Objective: To evaluate the safety and tolerability of recombinant human insulin-like growth
factor 1 (rhIGF-1) complexed with IGF binding protein 3 (rhIGF-1/rhIGFBP-3) in patients with …

Alternative splicing of RyR1 alters the efficacy of skeletal EC coupling

T Kimura, JD Lueck, PJ Harvey, SM Pace, N Ikemoto… - Cell calcium, 2009 - Elsevier
Alternative splicing of ASI residues (Ala3481–Gln3485) in the skeletal muscle ryanodine
receptor (RyR1) is developmentally regulated: the residues are present in adult ASI (+) …

Mechanisms of altered protein turnover in chronic diseases: a review of human kinetic studies

G Biolo, R Antonione, R Barazzoni… - Current Opinion in …, 2003 - journals.lww.com
Low-protein turnover conditions are usually associated with the adequate sparing of body
proteins, whereas in high-protein turnover conditions protein loss may proceed at a faster …