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Myopathology of Adult and Paediatric Mitochondrial Diseases

Rahul Phadke
2017 Journal of Clinical Medicine  
The incredible phenotypic and genetic diversity of mtD can be attributed at least in part to the RC dual genetic control (nuclear DNA (nDNA) and mitochondrial DNA (mtDNA)) and the complex interaction between  ...  involves a multipronged approach including clinical assessment, metabolic screening, imaging, pathological, biochemical and functional testing to guide molecular genetic analysis.  ...  Conflicts of Interest: The author declares no conflict of interest.  ... 
doi:10.3390/jcm6070064 pmid:28677615 pmcid:PMC5532572 fatcat:g6b6zuxaybczpcmbpgv7siagea

Computational Modeling of Realistic Cell Membranes

Siewert J. Marrink
2018 Biophysical Journal  
Now, we are witnessing a transition from simulations of simpler membrane models to multicomponent systems, culminating in realistic models of an increasing variety of cell types and organelles.  ...  Cell membranes contain a large variety of lipid types and are crowded with proteins, endowing them with the plasticity needed to fulfill their key roles in cell functioning.  ...  al. 382 show complexation between cytochrome bc1 and cytochrome c oxidase and point toward a specific role for CL in bridging the proteins together.  ... 
doi:10.1016/j.bpj.2017.11.2032 fatcat:opnbavtgknhqvhjfvosyawur2u

MITE (mariner insect transposon-like element, miniature inverted-repeat transposable element) [chapter]

2008 Encyclopedia of Genetics, Genomics, Proteomics and Informatics  
The mitochondrial respiratory chain involves the multisubunit complexes (I) NADH-UQ oxidoreductase, (II) succinate dehydrogenase, (III) UQ-cytochrome c oxidoreductase, (IV) cytochrome c oxidase, and (V  ...  The outer membrane is associated with monoamine oxidase and a NADH-cytochrome c reductase. Cardiolipin, phosphatidyl inositol, and cholesterol are major compounds associated with the inner membrane.  ...  derived from the father and grandfather (Teuscher C et al 2006 Proc Natl Acad Sci USA 103:8024) .  ... 
doi:10.1007/978-1-4020-6754-9_10520 fatcat:tj67vdv34vc63hlfupk6xahu24

Practical guidelines for rigor and reproducibility in preclinical and clinical studies on cardioprotection

Hans Erik Bøtker, Derek Hausenloy, Ioanna Andreadou, Salvatore Antonucci, Kerstin Boengler, Sean M. Davidson, Soni Deshwal, Yvan Devaux, Fabio Di Lisa, Moises Di Sante, Panagiotis Efentakis, Saveria Femminò (+18 others)
2018 Basic Research in Cardiology  
Morphologically, the cristae structure of SSM and IFM differs, in that SSM have mostly lamelliform cristae, whereas IFM have tubular or a mixture of tubular and lamelliform cristae [349] .  ...  chamber or in separate chambers communicating through filters or diffusible membranes [66] .  ... 
doi:10.1007/s00395-018-0696-8 pmid:30120595 fatcat:iev3q3qvwzfltfxm2nsreyc5ba