scholarly journals Mitochondrial Dysfunction Reveals the Role of mRNA Poly(A) Tail Regulation in Oculopharyngeal Muscular Dystrophy Pathogenesis

PLoS Genetics ◽  
2015 ◽  
Vol 11 (3) ◽  
pp. e1005092 ◽  
Author(s):  
Aymeric Chartier ◽  
Pierre Klein ◽  
Stéphanie Pierson ◽  
Nicolas Barbezier ◽  
Teresa Gidaro ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Mitochondrial Dysfunction ◽  
Oculopharyngeal Muscular Dystrophy

Mitochondrial dysfunction in oculopharyngeal muscular dystrophy

2017 ◽  
Vol 27 ◽  
pp. S203
Author(s):  
T. Doki ◽  
S. Yamashita ◽  
F. Wei ◽  
X. Zhang ◽  
Z. Zhang ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Mitochondrial Dysfunction ◽  
Oculopharyngeal Muscular Dystrophy

scholarly journals Progress in Understanding the Pathogenesis of Oculopharyngeal Muscular Dystrophy

2003 ◽  
Vol 30 (1) ◽  
pp. 8-14 ◽  
Author(s):  
Xueping Fan ◽  
Guy A. Rouleau
Keyword(s):  
Muscular Dystrophy ◽  
Autosomal Dominant ◽  
Oculopharyngeal Muscular Dystrophy ◽  
Intranuclear Inclusions ◽  
Intranuclear Inclusion ◽  
Limb Weakness ◽  
Dominant Form ◽  
Autosomal Dominant Form ◽  
Swallowing Difficulties

Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset disorder characterized by progressive eyelid drooping (ptosis), swallowing difficulties (dysphagia), and proximal limb weakness. The autosomal dominant form of this disease is caused by expansions of a (GCG)6 repeat to (GCG)8-13 in the PABPN1 gene. These mutations lead to the expansion of a polyalanine stretch from 10 to 12-17 alanines in the N-terminal domain of PABPN1. Mutated PABPN1 (mPABPN1) induces the formation of muscle intranuclear inclusions that are thought to be the hallmark of this disease. In this review, we discuss: 1) OPMD genetics and PABPN1 function studies; 2) diseases caused by polyalanine expansions and cellular polyalanine toxicity; 3) mPABPN1-induced intranuclear inclusion toxicity; 4) role of oligomerization of mPABPN1 in the formation and toxicity of OPMD intranuclear inclusions and; 5) recruitment of subcellular components to the OPMD inclusions. We present a potential molecular mechanism for OPMD pathogenesis that accounts for these observations.

Mitochondrial dysfunction in the pathogenesis of oculopharyngeal muscular dystrophy

2016 ◽  
Vol 26 ◽  
pp. S140
Author(s):  
T. Doki ◽  
S. Yamashita ◽  
Z. Zhang ◽  
X. Zhang ◽  
N. Tawara ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Mitochondrial Dysfunction ◽  
Oculopharyngeal Muscular Dystrophy

Unusual triplet expansion associated with neurogenic changes in a family with oculopharyngeal muscular dystrophy

2001 ◽  
Vol 21 (1) ◽  
pp. 45-52 ◽  
Author(s):  
Ralf Schober ◽  
Wolfram Kress ◽  
Friedrich Grahmann ◽  
Steffen Kellermann ◽  
Petra Baum ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Oculopharyngeal Muscular Dystrophy ◽  
Triplet Expansion

Role of Oxidative Stress and Mitochondrial Dysfunction in Skeletal Muscle in Type 2 Diabetic Patients

2016 ◽  
Vol 22 (18) ◽  
pp. 2650-2656 ◽  
Author(s):  
Noelia Diaz-Morales ◽  
Susana Rovira-Llopis ◽  
Irene Escribano-Lopez ◽  
Celia Bañuls ◽  
Sandra Lopez-Domenech ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Skeletal Muscle ◽  
Mitochondrial Dysfunction ◽  
Diabetic Patients ◽  
Type 2 Diabetic Patients ◽  
Type 2 Diabetic

Sepsis-induced myocardial dysfunction: the role of mitochondrial dysfunction

2021 ◽  
Vol 70 (4) ◽  
pp. 379-387
Author(s):  
Hang Yang ◽  
Zhaocai Zhang
Keyword(s):  
Mitochondrial Dysfunction ◽  
Myocardial Dysfunction
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