Mitochondrial disease
AHV Schapira - The Lancet, 2006 - thelancet.com
Defects of mitochondrial metabolism cause a wide range of human diseases that include
examples from all medical subspecialties. This review updates the topic of mitochondrial …
examples from all medical subspecialties. This review updates the topic of mitochondrial …
Intracellular iron transport and storage: from molecular mechanisms to health implications
EL Mackenzie, K Iwasaki, Y Tsuji - Antioxidants & redox signaling, 2008 - liebertpub.com
Maintenance of proper “labile iron” levels is a critical component in preserving homeostasis.
Iron is a vital element that is a constituent of a number of important macromolecules …
Iron is a vital element that is a constituent of a number of important macromolecules …
Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich's ataxia
M Perdomini, B Belbellaa, L Monassier… - Nature medicine, 2014 - nature.com
Cardiac failure is the most common cause of mortality in Friedreich's ataxia (FRDA), a
mitochondrial disease characterized by neurodegeneration, hypertrophic cardiomyopathy …
mitochondrial disease characterized by neurodegeneration, hypertrophic cardiomyopathy …
Iron–sulphur cluster biogenesis and mitochondrial iron homeostasis
TA Rouault, WH Tong - Nature Reviews Molecular Cell Biology, 2005 - nature.com
Iron–sulphur clusters are important cofactors for proteins that are involved in many cellular
processes, including electron transport, enzymatic catalysis and regulation. The enzymes …
processes, including electron transport, enzymatic catalysis and regulation. The enzymes …
The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues
Friedreich ataxia (FRDA) is caused by a homozygous GAA repeat expansion mutation within
intron 1 of the FXN gene, leading to reduced expression of frataxin protein. Evidence …
intron 1 of the FXN gene, leading to reduced expression of frataxin protein. Evidence …
Clinical features and molecular genetics of autosomal recessive cerebellar ataxias
BL Fogel, S Perlman - The Lancet Neurology, 2007 - thelancet.com
Among the hereditary ataxias, autosomal recessive spinocerebellar ataxias comprise a
diverse group of neurodegenerative disorders. Clinical phenotypes vary from predominantly …
diverse group of neurodegenerative disorders. Clinical phenotypes vary from predominantly …
Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial
NA Di Prospero, A Baker, N Jeffries… - The Lancet …, 2007 - thelancet.com
Background Friedreich's ataxia (FA) is a progressive, multisystem, degenerative disorder
caused by a reduction in frataxin. Loss of frataxin results in mitochondrial dysfunction and …
caused by a reduction in frataxin. Loss of frataxin results in mitochondrial dysfunction and …
Role of L-type Ca2+ channels in iron transport and iron-overload cardiomyopathy
Excessive body iron or iron overload occurs under conditions such as primary (hereditary)
hemochromatosis and secondary iron overload (hemosiderosis), which are reaching …
hemochromatosis and secondary iron overload (hemosiderosis), which are reaching …
[HTML][HTML] GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology
S Al-Mahdawi, RM Pinto, D Varshney, L Lawrence… - Genomics, 2006 - Elsevier
Friedreich ataxia (FRDA) is a neurodegenerative disorder caused by an unstable GAA
repeat expansion mutation within intron 1 of the FXN gene. However, the origins of the GAA …
repeat expansion mutation within intron 1 of the FXN gene. However, the origins of the GAA …
[图书][B] Textbook of cosmetic Dermatology
R Baran, H Maibach - 2010 - taylorfrancis.com
Embracing both the art and science of skin care, Cosmetic Dermatology covers a wide range
of interventions and treatments designed to maintain and beautify healthy skin and protect …
of interventions and treatments designed to maintain and beautify healthy skin and protect …