Results 131 to 140 of about 567,861 (164)

DISEASES OF THE MITOCHONDRIAL DNA

Annual Review of Biochemistry, 1992
INTRODUCTION . . _ . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 175 THE HUMAN MITOCHONDRIAL DNA AND OXIDATIVE PHOSPHORYLATION 1176 Mitochondrial Biogenesis ... 1 176 Mitochondrial OXPHOS Complexes and their Synthesis 1 178 Developmental Regulation of Nuclear OXPHOS Genes ...
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Mitochondrial Genetics and Disease

Journal of Child Neurology, 2014
Mitochondrial disease resulting in reduced bioenergetic output can be due to mutations in either nuclear DNA–encoded or mitochondrial DNA–encoded gene products. We summarize some of the underlying principles of mitochondrial genetics that impact the diagnosis and pathogenesis of mitochondrial disorders. In addition, we present a brief overview of a new
Estela, Area-Gomez, Eric A, Schon
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Mitochondrial Diseases of the Brain

Free Radical Biology and Medicine, 2013
Neurodegenerative disorders are debilitating diseases of the brain, characterized by behavioral, motor and cognitive impairments. Ample evidence underpins mitochondrial dysfunction as a central causal factor in the pathogenesis of neurodegenerative disorders including Parkinson's disease, Huntington's disease, Alzheimer's disease, Amyotrophic lateral ...
Rajnish K, Chaturvedi, M, Flint Beal
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Mitochondrial disease and the heart

Heart, 2016
### Learning objectives Mitochondrial diseases (MDs) include a wide range of clinical entities involving tissues that have high energy requirements such as heart, muscle, kidney and the endocrine system1 (figure 1). Defects in mitochondrial DNA (mtDNA) mutations are the most common cause of MDs in adults.2 ,3 However, the nuclear gene defects are ...
Limongelli, Giuseppe, Masarone, Daniele, Pacileo, Giuseppe   +2 more
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Anaesthesia and mitochondrial disease

Pediatric Anesthesia, 1998
Mitochondrial diseases, or encephalomyopathies, are an uncommon, heterogeneous group of disorders with variable clinical course and presentation. Many of these patients present for surgery, or undergo anaesthesia in the course of investigation of their illness.
J J, Wallace, H, Perndt, M, Skinner
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The Genetics of Mitochondrial Disease

Seminars in Neurology, 2011
The discovery that defects in mitochondria and mitochondrial DNA could cause human disease has led to the development of a rapidly expanding group of disorders known as mitochondrial disease. Mitochondrial disease is so named because of the common feature of impaired mitochondrial function.
Ryan L, Davis, Carolyn M, Sue
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Primary mitochondrial diseases

Primary mitochondrial diseases (PMDs) are a heterogeneous group of hereditary disorders characterized by an impairment of the mitochondrial respiratory chain. They are the most common group of genetic metabolic disorders, with a prevalence of 1 in 4,300 people.
Chiara, Pizzamiglio, Michael G, Hanna, Robert D S, Pitceathly   +2 more
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MITOCHONDRIAL INHERITANCE AND DISEASE

The Lancet, 1978
Spontaneously occurring variants of the D.N.A. content of mitochondria may be responsible for human disease. Among the prime candidates for such a mitochondrial aetiology are certain drug-induced blood dyscrasias, particularly that due to chloramphenicol.
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Autism and mitochondrial disease

Developmental Disabilities Research Reviews, 2010
AbstractAutism spectrum disorder (ASD) as defined by the revised Diagnostic and Statistical Manual of Mental Disorders: DSM IVTR criteria (American Psychiatric Association [2000] Washington, DC: American Psychiatric Publishing) as impairment before the age of 3 in language development and socialization with the development of repetitive behaviors ...
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Mitochondrial Dynamics in Disease

New England Journal of Medicine, 2007
Mitochondria are subcellular organelles that coordinate numerous metabolic reactions, including those of the respiratory complexes that produce the ATP that powers cellular reactions. They have often been depicted as static, with a kidney-bean shape, but there is a growing appreciation of their dynamic nature.
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