Subcellular partitioning of MRP RNA assessed by ultrastructural and biochemical analysis. [PDF]
, 1994 A small RNA encoded within the nucleus is an essential subunit of a RNA processing endonuclease (RNase MRP) hypothesized to generate primers for mitochondrial DNA replication from the heavy strand origin of replication.
Gonzalez, M +6 more
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UEG Week 2015 Poster Presentations
, 2015 United European Gastroenterology Journal, Volume 3, Issue S5, Page 146-687, October 2015.
wiley +1 more source
UEG Week 2014 Poster Presentations
, 2014 United European Gastroenterology Journal, Volume 2, Issue S1, Page A132-A605, October 2014.
wiley +1 more source
A novel mtDNA point mutation in tRNAVal is associated with hypertrophic cardiomyopathy and MELAS [PDF]
, 2004 Background. Pathological mutations of mitochondrial (mt) DNA may cause specific diseases such as cardiomyopathies or hearing loss, or syndromes such as mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode (MELAS) syndrome.
Arbustini, Eloisa +5 more
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Myofiber stress-response in myositis: parallel investigations on patients and experimental animal models of muscle regeneration and systemic inflammation [PDF]
, 2010 Introduction: The endoplasmic reticulum (ER) stress-response, evoked in mice by the overexpression of class I major histocompatibility complex antigen (MHC-I), was proposed as a major mechanism responsible for skeletal muscle damage and dysfunction in ...
Maurizio Vitadello +4 more
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UEG Week 2013 Poster Presentations
, 2013 United European Gastroenterology Journal, Volume 1, Issue S1, Page A135-A587, October 2013.
wiley +1 more source
Cellular and molecular mechanisms underlying muscular dystrophy [PDF]
, 2014 The muscular dystrophies are a group of heterogeneous genetic diseases characterized by progressive degeneration and weakness of skeletal muscle. Since the discovery of the first muscular dystrophy gene encoding dystrophin, a large number of genes have ...
Kunkel, Louis M., Rahimov, Fedik
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Silent polymorphisms in the RYR1 gene do not\ud modify the phenotype of the p.4898 I>T\ud pathogenic mutation in central core disease:\ud a case report [PDF]
Background: Central core disease is a congenital myopathy, characterized by presence of central core-like areas in\ud muscle fibers. Patients have mild or moderate weakness, hypotonia and motor developmental delay.
Cuperman, Thais +9 more
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SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome [PDF]
, 2017 Marinesco-Sjögren syndrome is a rare autosomal recessive multisystem disorder featuring cerebellar ataxia, early-onset cataracts, chronic myopathy, variable intellectual disability and delayed motor development. More recently, mutations in the SIL1 gene,
Baudis, Michael +33 more
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